Oncology Genetics

Breast/Ovarian Cancer

BRCA1/2 Sequencing and Del/Dup analysis

Forms and Documents

Test Details

BRCA1, BRCA2
  • Verification of a genetic basis for cancer in families indicative/suggestive of hereditary breast and ovarian cancer.
  • Determination of appropriate screening and treatment.
  • Identification of at-risk family members.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B362
8-10 days
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  3. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  4. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  5. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  6. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Clin Oncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  7. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  8. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J Clin Oncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  9. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J Clin Oncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  10. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  11. Ozcelik H et al. Germline BRCA26174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet. 1997 May;16(1):17-8. (PMID 9140390)
  12. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  13. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  14. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J Natl Cncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  15. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [May 2013 accessed].
  16. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310-6. (PMID 10433620)
  17. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  18. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
BRCA1/ BRCA2 Ashkenazi Founder Panel

Forms and Documents

Test Details

BRCA1, BRCA2
  • Per NCCN guidelines, any woman of Ashkenazi Jewish ancestry who has been diagnosed with breast or ovarian cancer meets criteria for BRCA founder variant testing.
  • Verification of a genetic basis for cancer in families indicative or suggestive of hereditary breast and ovarian cancer.
  • Determination of appropriate screening and treatment.
  • Identification of at-risk family members.
  • Capillary Sequencing

Ordering

B361
8-10 days
2-5 mL Blood - Lavender Top Tube

Billing

81212x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  3. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  4. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  5. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  6. Frank TS et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002 Mar 15;20(6):1480-90. (PMID 11896095)
  7. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Clin Oncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  8. Kauff ND et al. Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J Med Genet. 2002; 39(8):611-4. (PMID 12023992)
  9. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  10. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J Clin Oncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  11. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J Clin Oncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  12. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  13. Ozcelik H et al. Germline BRCA26174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet. 1997 May;16(1):17-8. (PMID 9140390)
  14. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  15. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  16. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J Natl Cncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  17. Roa BB et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 1996 Oct;14(2):185-7. (PMID 8841191)
  18. Struewing JP et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995 Jan;12(1):110. (PMID 7550349)
  19. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [May 2013 accessed].
  20. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310-6. (PMID 10433620)
  21. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  22. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
BRCA1 and BRCA2 Sequencing

Forms and Documents

Test Details

BRCA1, BRCA2
  • Verification of a genetic basis for cancer in families indicative/suggestive of hereditary breast and ovarian cancer.
  • Determination of appropriate screening and treatment.
  • Identification of at-risk family members.
  • Next-Gen Sequencing

Ordering

B502
8-10 days
2-5 mL Blood - Lavender Top Tube

Billing

81211x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma.Eur J SurgOncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  3. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance.J ClinOncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  4. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  5. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  6. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J ClinOncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  7. Judkins T et al. Clinical significance of large rearrangements in BRCA1 and BRCA2.Cancer. 2012 Nov 1;118(21):5210-6. (PMID 22544547)
  8. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  9. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J ClinOncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  10. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J ClinOncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  11. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  12. Ozcelik H et al. Germline BRCA26174delT mutations in Ashkenazi Jewish pancreatic cancer patients.Nat Genet. 1997 May;16(1):17-8. (PMID 9140390)
  13. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  14. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention.Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  15. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J NatlCncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  16. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [May 2013 accessed].
  17. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310-6. (PMID 10433620)
  18. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer.Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  19. Walsh T et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006 Mar 22;295(12):1379-88. (PMID 16551709)
  20. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. ProcNatlAcad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
BRCA1 and BRCA2 Del/Dup

Forms and Documents

Test Details

BRCA1, BRCA2
  • Verification of a genetic basis for cancer in families indicative/suggestive of hereditary breast and ovarian cancer.
  • Determination of appropriate screening and treatment.
  • Identification of at-risk family members.
  • Exon Array CGH

Ordering

B501
8-10 days
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81213x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma.Eur J SurgOncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  3. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance.J ClinOncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  4. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  5. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  6. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J ClinOncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  7. Judkins T et al. Clinical significance of large rearrangements in BRCA1 and BRCA2.Cancer. 2012 Nov 1;118(21):5210-6. (PMID 22544547)
  8. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  9. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J ClinOncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  10. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J ClinOncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  11. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  12. Ozcelik H et al. Germline BRCA26174delT mutations in Ashkenazi Jewish pancreatic cancer patients.Nat Genet. 1997 May;16(1):17-8. (PMID 9140390)
  13. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  14. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention.Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  15. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J NatlCncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  16. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [May 2013 accessed].
  17. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310-6. (PMID 10433620)
  18. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer.Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  19. Walsh T et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006 Mar 22;295(12):1379-88. (PMID16551709)
  20. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. ProcNatlAcad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
Breast Cancer High/Moderate Risk Panel

Forms and Documents

Test Details

ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
  • Identify the genetic basis of breast cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
  • To possibly help determine appropriate clinical management recommendations based on a molecular diagnosis.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J055
2 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81321x1, 81323x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Antoniou A et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014 Aug 7;371(6):497-506. (PMID 25099575)
  3. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  4. Brooks-Wilson AR. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet. 2004 Jul;41(7):508-17. (PMID 15235021)
  5. Bubien V et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013 Apr;50(4):255-63. (PMID 23335809)
  6. Byrnes GB et al. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2, and CHEK2, high risk for women with strong family histories? Breast Cancer Res. 2008;10(3):208. (PMID 18557994)
  7. Casadei S et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res. 2011 Mar 15;71(6):2222-9. (PMID 21285249)
  8. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  9. Chompret A et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer. 2000 Jun;82(12):1932-7. (PMID 10864200)
  10. Claus EB et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996 Jun 1;77(11):2318-24. (PMID: 8635102)
  11. Cybulski C et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004 Dec;75(6):1131-5. (PMID 15492928)
  12. Dong X et al. Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet. 2003 Feb;72(2):270-80. (PMID 12533788)
  13. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  14. Einarsdóttir K et al. Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk. Hum Mol Genet. 2007 Jan 15;16(2):154-64. (PMID 17164260)
  15. Errko H et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007 Mar 15;446(7133):316-9. (PMID 17287723)
  16. Fitzgerald RC et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010 Jul;47(7):436-44. (PMID 20591882)
  17. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  18. Giardiello FM et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000 Dec;119(6):1447-53. (PMID 11113065)
  19. Gonzalez PD et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009 Mar 10;27(8):1250-6. (PMID 19204208)
  20. Guilford P. E-cadherin germline mutations in familial gastric cancer. Nature. 1998 Mar 26;392(6674):402-5. (PMID 9537325)
  21. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Clin Oncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  22. Han FF et al. The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis. DNA Cell Biol. 2013 Jun;32(6):329-35. (PMID 23713947)
  23. Hearle N et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May;12(10):3209-15. (PMID 16707622)
  24. Hisada M et al. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998 Apr 15;90(8):606-11. (PMID 9554443)
  25. Hobert JA and Eng C. PTEN hamartoma tumor syndrome: An overview. Genet Med 2009:11(10):687– 694. (PMID 19668082)
  26. Jones S et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009 Apr 10;324(5924):217. (PMID 19264984)
  27. Kaurah P. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007 Jun 6;297(21):2360-72. (PMID 17545690)
  28. Kilpivaara O et al. CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet. 2006 Jul;43(7):e34. (PMID 16816021)
  29. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  30. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J Clin Oncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  31. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J Clin Oncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  32. Liu C et al. The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis. Asian Pac J Cancer Prev. 2012;13(5):2051-5. (PMID 22901170)
  33. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2015 (URL: http://www.nccn.org) [June 2015 accessed].
  34. NCCN Guidelines. Gastric Cancer. Version 3.2015 (URL: http://www.nccn.org) [June 2015 accessed].
  35. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2015 (URL: http://www.nccn.org) [June 2015 accessed].
  36. Olivier M et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003 Oct 15;63(20):6643-50. (PMID 14583457)
  37. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  38. Petridis C et al. Germline CDH1 mutations in bilateral lobular carcinoma in situ. Br J Cancer. 2014 Feb 18;110(4):1053-7. (PMID 24366306)
  39. Pharoah PD et al. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001 Dec;121(6):1348-53. (PMID 11729114)
  40. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  41. Rahman N et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007 Feb;39(2):165-7. (PMID 17200668)
  42. Renwick A et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006 Aug; 38(8):873-5. (PMID 16832357)
  43. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J Natl Cncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  44. Roberts NJ et al. ATM Mutations in Patients with Hereditary Pancreatic Cancer. Cancer Discov. 2012 Jan;2(1):41-6. (PMID 22585167)
  45. Ruijs MWG et al. TP53 germline mutation testing in 180 families suspected of LieFraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet. 2010 Jun;47(6):421-8. (PMID 20522432)
  46. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  47. Schrader KA et al. Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet. 2011 Jan;48(1):64-8. (PMID 20921021)
  48. Seppala EH et al. CHEK2 variants associate with hereditary prostate cancer. Br J Cancer. 2003 Nov 17;89(10):1966-70. (PMID 14612911)
  49. Slater EP et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010 Nov;78(5):490-4. (PMID 20412113)
  50. Suchy J et al. CHEK2 mutations and HNPCC-related colorectal cancer. Int J Cancer. 2010 Jun 15;126(12):3005-9. (PMID 19876921)
  51. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [May 2013 accessed].
  52. Tavtigian SV et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009 Oct;85(4):427-46. (PMID 19781682)
  53. The CHEK2 Breast Cancer Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004 Jun;74(6):1175-82. (PMID 15122511)
  54. Thompson D et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005 Jun 1; 97(11):813-22. (PMID 15928302)
  55. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID 21336636)
  56. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7. (PMID 22006311)
Breast/Ovarian Cancer Panel

Forms and Documents

Test Details

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, XRCC2
  • The family history is suggestive of a predisposition to hereditary breast and ovarian cancer. Although the BRCA1 and BRCA2 genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of both types of cancer. The OncogeneDx Breast and Ovarian Cancer panel includes analysis of the BRCA1 and BRCA2 genes as well as 18 other genes affecting breast and/or ovarian cancer risk. Thus, the OncogeneDx Breast and Ovarian Cancer panel offers increased clinical sensitivity compared to testing only for the BRCA genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering BRCA testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of ovarian cancer, this may be associated with a breast/ovarian cancer syndrome such as BRCA1 or BRCA2 or Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM).
  • Prior genetic testing has been performed due to a family history suggestive of a hereditary cancer predisposition, and all results have been negative. OncogeneDx includes newly identified genes in addition to genes identified many years ago associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B273
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162, 81321, 81292x1, 81294x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  3. NCCN BR/OV Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  4. NCCN CRC Guidelines. Colorectal Cancer Screening. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  5. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  6. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  7. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [May 2013 accessed].
  8. van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  9. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
Breast Cancer Surgical Panel

Forms and Documents

Test Details

BRCA1, BRCA2, PALB2
  • Identify the genetic basis of breast cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
  • To possibly help determine appropriate clinical management recommendations based on a molecular diagnosis, including surgical management decisions for patients recently diagnosed with breast cancer.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J662
8-10 days
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Antoniou A et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014 Aug 7;371(6):497-506. (PMID 25099575)
  3. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  4. Byrnes GB et al. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2, and CHEK2, high risk for women with strong family histories? Breast Cancer Res. 2008;10(3):208. (PMID 18557994)
  5. Casadei S et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res. 2011 Mar 15;71(6):2222-9. (PMID 21285249)
  6. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  7. Claus EB et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996 Jun 1;77(11):2318-24. (PMID: 8635102)
  8. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  9. Errko H et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007 Mar 15;446(7133):316-9. (PMID 17287723)
  10. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  11. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Clin Oncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  12. Jones S et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009 Apr 10;324(5924):217. (PMID 19264984)
  13. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643- 6. (PMID 14576434)
  14. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J Clin Oncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  15. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J Clin Oncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  16. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  17. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  18. Rahman N et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007 Feb;39(2):165-7. (PMID 17200668)
  19. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J Natl Cncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  20. Slater EP et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010 Nov;78(5):490-4. (PMID 20412113)
  21. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2012: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2016 accessed].
  22. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Multiple Cancers

High/Moderate Risk Panel

Forms and Documents

Test Details

APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of ovarian cancer, this may be associated with a breast/ovarian cancer syndrome such as BRCA1 or BRCA2 or Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM). Thus, the OncoGeneDx High/Moderate Risk Panel offers increased clinical sensitivity compared to testing only for the BRCA genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering BRCA testing followed by additional genetic testing).
  • The family history includes a number of cancer cases, but they are of several different types. Therefore, the pattern does not seem to fit any one hereditary cancer syndrome in particular.
  • Some genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition, and results have been negative. OncoGeneDx High/Moderate Risk Panel includes three recently described, but well-studied, cancer predisposition genes (ATM, CHEK2, PALB2) in addition to genes associated with classic hereditary cancer syndromes, and may allow for detection of a causative mutation after initial testing is uninformative.
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B751
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81201x1, 81203x1, 81292x1, 81294x1, 81295x1
Yes
No
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. National Cancer Institute at the National Institutes of Health. What you need to know about: cancer; risk factors. (URL: http://www.cancer.gov/cancertopics) [July 2013 accessed].
  3. NCCN Guidelines.Gastric Cancer. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [July 2014 accessed].
  4. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed].
  5. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  6. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography.CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  7. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].
Comprehensive Cancer Panel

Forms and Documents

Test Details

APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SCG5/GREM1, SMAD4, STK11, TP53, VHL, XRCC2
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of ovarian cancer, this may be associated with a breast/ovarian cancer syndrome such as BRCA1 or BRCA2 or Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM). Thus, the OncogeneDx Comprehensive Cancer panel offers increased clinical sensitivity compared to testing only for the BRCA genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering BRCA testing followed by additional genetic testing).
  • The family history includes a number of cancer cases, but they are of several different types. Therefore, the pattern does not seem to fit any one hereditary cancer syndrome in particular.
  • Some genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition, and all results have been negative. OncogeneDx includes recently described cancer predisposition genes in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B275
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81201x1, 81203x1, 81292x1, 81294x1, 81295x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. National Cancer Institute at the National Institutes of Health. What you need to know about: cancer; risk factors. (URL: http://www.cancer.gov/cancertopics) [July 2013 accessed].
  3. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  4. NCCN Guidelines. Colorectal Cancer Screening. Version 1.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  5. NCCN Guidelines. Gastric Cancer. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [July 2014 accessed].
  6. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  7. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  8. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].
Endometrial Cancer Panel

Forms and Documents

Test Details

BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, TP53
  • The family history is suggestive of a predisposition to hereditary endometrial cancer. Although the Lynch syndrome-associated genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of endometrial cancer. The OncogeneDx Endometrial Cancer panel includes analysis of the Lynch syndrome genes as well as 6 other genes associated with increased endometrial cancer risk. Thus, the OncogeneDx Endometrial Cancer panel offers increased clinical sensitivity compared to testing only for the Lynch syndrome-associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering testing for the Lynch syndrome-associated genes followed by additional genetic testing).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of endometrial cancer, this may be associated with a cancer syndrome such as Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) or PTEN Hamartoma Tumor Syndrome (PTEN).
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncogeneDx includes genes whose role in endometrial cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B344
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81211x1, 81292x1, 81295x1, 81298x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010;105(11):2449-56. (PMID 20531397)
  3. Hampel et al. Comment on: screening for Lynch Syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2007;67:9603. (PMID 17909073)
  4. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  5. NCCN Guidelines. Colorectal Cancer Screening. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  6. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  7. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  8. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  9. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
  10. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].
  11. Setiawan VW et al. Type I and II Endometrial Cancers: Have They Different Risk Factors? J Clin Oncol. 2013 Jul 10;31(20):2607-18. (PMID 23733771)
  12. Tutlewska K, Lubinski J, and Kurzawski G. Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review. Hered Cancer Clin Pract. 2013;11(1):9. (PMID 23938213)
  13. Wimmer K and Kratz CP. Constitutional mismatch repair?deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Pancreatic Cancer Panel

Forms and Documents

Test Details

APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL, XRCC2
  • The family history is suggestive of a predisposition to pancreatic cancer. Although the BRCA2, PALB2, CDKN2A, STK11, ATM, and Lynch syndrome genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of pancreatic cancer. The OncogeneDx Pancreatic Cancer panel includes analysis of these genes as well as 6 other genes affecting pancreatic cancer risk. Thus, the OncogeneDx Pancreatic Cancer panel offers increased clinical sensitivity compared to testing only for the most commonly associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering BRCA2 testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple types of cancer, such as breast cancer in addition to pancreatic cancer, this may be associated with a cancer syndrome such as BRCA1 or BRCA2 or Peutz-Jehgers syndrome (STK11).
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncogeneDx includes genes whose role in cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B343
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81201x1, 81404x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID 20531397)
  3. Eckerle Mize D, Bishop M, Resse E, and Sluzevich J (2009). Familial Atypical Multiple Mole Melanoma Syndrome. In Riegert-Johnson DL, Boardman LA, Hefferon T, and Roberts M (Eds), Cancer Syndromes [Internet]. Bethesda (MD): NCBI.
  4. Frantzen C, Links TP, and Giles RH. Von Hippel-Lindau Disease. (2000 [updated 2012]). In Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, and Stephens K (Eds), GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.
  5. Grover S, Syngal S. Hereditary pancreatic cancer. Gastroenterol 2010 Oct;139(4):1076-80. (PMID 20727885)
  6. Lowenfels AB and Maisonneuve P. Epidemiology and risk factors for pancreatic cancer. Best Pract Res Clin Gastroenterol. 2006 Apr;20(2):197-209. (PMID 16549324)
  7. Lynch HT, Smyrk, Kern SE, et al. Familial pancreatic cancer: a review. Semin Oncol. 1996 Apr;23(2):251-75. (PMID 8623061)
  8. Brand RE, Lynch HT. Hereditary pancreatic adenocarcinoma. A clinical perspective. Med Clin North Am. 2000 May;84(3):665-75. (PMID 10872423)
  9. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].
  10. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Familial Cutaneous Malignant Melanoma

Forms and Documents

Test Details

CDK4, CDKN2A
  • Identification of a hereditary susceptibility to malignant melanoma
  • Development of a clinical surveillance plan for early detection
  • Identification of at-risk family members
  • Capillary Sequencing
  • Exon Array CGH

Ordering

B399
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Begg CB et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005 Oct 19;97(20):1507-15. (PMID: 16234564)
  2. Bishop DT et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. (PMID: 12072543)
  3. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID: 23135763)
  4. de Snoo FA et al. Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res. 2008 Nov 1;14(21):7151-7. (PMID: 18981015)
  5. Gabree M et al. Clinical applications of melanoma genetics. Curr Treat Options Oncol. 2014 Jun;15(2):336-50. (PMID: 24652319)
  6. Goldstein AM et al. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat. 2004 Jun;23(6):630. (PMID: 15146471)
  7. Goldstein AM et al. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet. 2007 Feb;44(2):99-106. (PMID: 16905682)
  8. Hayward NK et al. Genetics of melanoma predisposition. Oncogene. 2003 May 19;22(20):3053-62. (PMID: 12789280)
  9. Mistry SH et al. Prevalence of 9p21 deletions in UK melanoma families. Genes Chromosomes Cancer. 2005 Nov;44(3):292-300. (PMID: 16032697)
  10. National Cancer Institute. Melanoma. (URL: http://www.cancer.gov/cancertopics/pdq/genetics/skin/HealthProfessional/page4#Section_397) [November 2014 accessed]
  11. Puntervoll HE et al. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet. 2013 Apr;50(4):264-70. (PMID: 23384855)
  12. Randerson-Moor JA et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet. 2001 Jan 1;10(1):55-62. (PMID: 11136714)
  13. Royal College of Physicians and British Association of Dermatologists. The prevention, diagnosis, referral and management of melanoma of the skin; concise guidelines. Concise guidance to good practice series, No 7. London: RCP, 2007 (URL: https://www.rcpl
  14. Rulyal SJ et al. Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. Cancer. 2003 Aug 15;98(4):798-804. (PMID: 12910525)
  15. Sekulic A et al. Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc. 2008 Jul;83(7):825-46. (PMID: 18613999)
  16. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2014 accessed].
  17. van der Ree J et al. Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A. J Am Acad Dermatol. 2011 Aug;65(2):281-8. (PMID: 21570156)
  18. Vasen HF et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16- Leiden). Int J Cancer. 2000 Sep 15;87(6):809-11. (PMID: 10956390)
Pediatric Tumor Panel

Forms and Documents

Test Details

ALK, APC, CDC73 (HRPT2), DICER1, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, NF2, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, RET, SMARCA4, SMARCB1, STK11, SUFU, TP53, TSC1, TSC2, VHL, WT1
  • The family history or tumor type is suggestive of a predisposition to pediatric cancer. The OncoGeneDx Pediatric Tumor Panel offers increased clinical sensitivity compared to testing only for the genes most commonly associated with pediatric cancer susceptibility. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering TP53 testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the child’s personal and/or family history consists of multiple types of tumors or cancer such as a pediatric brain tumor in addition to a hematological malignancy, this may be associated with a cancer syndrome such as Li-Fraumeni syndrome or CMMRD syndrome.
  • Genetic testing has already been ordered due to a personal or family history suggestive of a hereditary cancer predisposition and all results have been negative. OncoGeneDx Pediatric Tumor Panel includes genes whose role in cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J318
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81201x1 81203x1 81405x1 81406x1 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Auber F et al. Management of Wilms tumors in Drash and Frasier syndromes. Pediatric Blood & Cancer. 2009 Jan 52(1):55?9. (PMID: 18816692)
  2. American Cancer Society. Special Section: Cancer in Children & Adolescents. Cancer Facts & Figures. 2014
  3. American Thyroid Association. http://www.thyroid.org
  4. Bree AF et al. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011 Sep;155A(9):2091?7. doi: 10.1002/ajmg.a.34128. (PMID: 21834049)
  5. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339?47. (PMID 23135763)
  6. Correa R et al. Carney complex: an update. Eur J Endocrinol. 2015 Oct;173(4):M85?97. (PMID: 26130139)
  7. Dome JS, Huff V. Wilms Tumor Overview. 2003 Dec 19 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  8. Doros L, Schultz KA, Stewart DR, et al. DICER1?Related Disorders. 2014 Apr 24. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  9. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449?56. (PMID 20531397)
  10. Evans DG et al. Genetic testing and screening g of individuals at risk of NF2. Clin Genet. 2012 Nov;82(5):416?24. (PMID: 22098617)
  11. Evans DG, Farndon PA. Nevoid Basal Cell Carcinoma Syndrome. 2002 Jun 20 [Updated 2015 Oct 1]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  12. Frantzen C, Klasson TD, Links TP, et al. Von Hippel?Lindau Syndrome. 2000 May 17 [Updated 2015 Aug 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  13. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  14. Greengard EG, Park JR. ALK?Related Neuroblastic Tumor Susceptibility. 2010 Jan 5 [Updated 2015 Apr 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  15. Jackson MA, Rich TA, Hu MI, et al. CDC73?Related Disorders. 2008 Dec 31 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  16. Krueger DA et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):255?65. (PMID: 24053983)
  17. Lohmann DR, Gallie BL. Retinoblastoma. 2000 Jul 18 [Updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  18. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed].
  19. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  20. NCCN Guidelines. Thyroid Carcinoma. (URL: http://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf) [February 2016 accessed].
  21. Parsons DW et al. Diagnostic Yield of Clinical Tumor and Germline Whole?Exome Sequencing for Children With Solid Tumors. Jama Oncology. 2016 Jan 28. (PMID: 26822237)
  22. Plon SE and Nathanson K. Inherited Susceptibility for Pediatric Cancer. Cancer J. 2005 Jul?Aug. (PMID:16197716)
  23. Richards CS et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008 Apr;10(4):294?300.
  24. Scott RH et al. Surveillance for Wilms tumour in at?risk children: pragmatic recommendations for best practice. Archives Of Disease In Childhood. 2006 Dec 91(12):995?9. PMID: (16857697)
  25. Stratakis C et al. Clinical and Molecular Features of the Carney Complex: Diagnostic Criteria and Recommendations for Patient Evaluation J Clin Endocrinol Metab. 2001 Sep;86(9):4041?6. (PMID: 11549623)
  26. The Endocrine Society. https://www.endocrine.org/
  27. Weese?Mayer DE et al. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15;181(6):626?44. (PMID: 20208042)
  28. Weese?Mayer DE, Marazita ML, Rand CM, et al. Congenital Central Hypoventilation Syndrome. 2004 Jan 28 [Updated 2014 Jan 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 199
  29. Wimmer K and Kratz CP. Constitutional mismatch repair?deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
  30. Zhang J et al. Germline Mutations in Predisposition Genes in Pediatric Cancer. The New England Journal Of Medicine. 2015 Nov 18. (PMID 26580448)
Hereditary Prostate Cancer Panel

Forms and Documents

Test Details

ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53
  • The family history is suggestive of a predisposition to hereditary prostate cancer especially if the prostate cancer was diagnosed at an early age, was metastatic/aggressive, or multiple family members were diagnosed with prostate cancer. Although the BRCA1 and BRCA2 genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of prostate cancer or have been associated with more aggressive forms of prostate cancer. The OncogeneDx Prostate Cancer panel includes analysis of the BRCA1 and BRCA2 genes as well as 10 other genes that have been observed in patients and/or families with prostate cancer. Thus, the OncogeneDx Prostate Cancer panel offers increased clinical sensitivity compared to testing only for the BRCA1 and BRCA2 genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering testing for the BRCA1 and BRCA2 genes followed by additional genetic testing).
  • The differential diagnosis includes various cancer predisposition genes. For example, if the family history consists of multiple relatives diagnosed with prostate cancer and breast cancer, this may be associated with several cancer predisposition genes including BRCA1, BRCA2, CHEK2, among others.
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. The OncogeneDx Prostate Cancer panel includes genes whose role in prostate cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J665
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81405x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Carter BS et al. Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3367-71. (PMID: 1565627)
  2. Cybulski C et al. An inherited NBN mutation is associated with poor prognosis prostate cancer. British Journal Of Cancer. 2013 Feb 5 108(2):461-8. (PMID: 23149842)
  3. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID: 20531397)
  4. Huang H and Cai B. G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis. Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine. 2014 Feb 35(2):1177-82. (PMID: 24026887)
  5. Hwang SJ et al. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. American Journal Of Human Genetics. 2003 72(4):975-83. (PMID: 12610779)
  6. Lowenfels AB and Maisonneuve P. Epidemiology and risk factors for pancreatic cancer. Best Pract Res Clin Gastroenterol. 2006 Apr;20(2):197-209. (PMID: 16549324)
  7. Pritchard CC et al. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. The New England Journal Of Medicine. 2016 Jul 6. (PMID: 27433846)
  8. Ryan S et al. Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis. Cancer Epidemiology, Biomarkers & Prevention: A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive
  9. Thompson D, Easton DF, and the Breast Cancer Linkage Consortium. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002 Sep;94(18):1358-65. (PMID: 12237281)
  10. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2012: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2016 accessed].
  11. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID: 20442441)
Renal Cancer Panel

Forms and Documents

Test Details

BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
  • The family history is suggestive of a predisposition to renal cancer. Although VHL, MET, FLCN, FH, TSC1 and TSC2 are the genes that are the most often associated with classic forms of hereditary renal cancer, there are several other genes that cause an increased risk of renal cancer. The OncoGeneDx Renal Cancer panel includes analysis of these genes as well as 12 other genes affecting renal cancer risk. Thus, the OncoGeneDx Renal Cancer panel offers increased clinical sensitivity compared to testing only for the most commonly associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering VHL testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple types of cancer, such as renal cancer in addition to pancreatic cancer, this may be associated with a cancer syndrome such as VHL or Lynch syndrome.
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncoGeneDx Renal Cancer Panel includes genes whose role in cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B394
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x1, 81405x1, 81406x1, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Coleman JA and Russo P. Hereditary and familial kidney cancer. Current Opinion In Urology. 2009 Sep 19(5):478-85. (PMID: 19584731)
  3. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID 20531397)
  4. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  5. Krueger DA et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):255-65. (PMID: 24053983)
  6. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42.(PMID: 24893135)
  7. Menko FH et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009 Dec;10(12):1199-206. (PMID: 19959076)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed]
  10. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed]
  11. Rini BI et al. Renal cell carcinoma. Current Opinion In Oncology. 2006 May 18(3):289-96 (PMID: 16552243)
  12. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed]
  13. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Forms and Documents

Test Details

FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
  • The family history is suggestive of a predisposition to PGL/PCC. Although SDHB, SDHC, and SDHD are the genes that are the most often associated with classic forms of hereditary paraganglioma/pheochromocytoma syndrome, there are several other genes that cause an increased risk of these tumors. The OncoGeneDx PGL/PCC Panel includes analysis of these genes as well as nine other genes affecting PCC/PGL risk. Thus, the OncoGeneDx PGL/PCC Panel offers increased clinical sensitivity compared to testing only for the most commonly associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering SDHB testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary syndromes. For example, if the family history consists of multiple types of tumors or cancers, such as paraganglioma in addition to renal cancer, this may be associated with a syndrome such as VHL or hereditary PGL/PCC syndrome.
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary tumor predisposition and all results have been negative. OncoGeneDx PGL/PCC Panel includes genes whose role in cancer/tumor predisposition has been described recently in addition to genes associated with classic hereditary tumor syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B395
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x3, 81405x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. American Thyroid et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009 Jun;19(6):565-612.
  2. Bryant J et al. Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst. 2003 Aug 20;95(16):1196-204. (PMID: 12928344)
  3. Coughlin EM et al. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62.9635293 (PMID: 9635293)
  4. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/
  5. Gellera C et al. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology. 1990 Mar;40(3 Pt 1):495-9. 2314594 (PMID: 2314594)
  6. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  7. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42. (PMID: 24893135)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. Mroch AR et al. Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. Am J Med Genet A. 2012 Jan;158A(1):155-8. (PMID: 22069215)
  10. NCCN Guidelines. Thyroid Carcinoma. Version 2.2015 (URL: http://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf) November 2015 accessed.
  11. Thakker et al. Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of Clinical Endocrinology and Metabolism. 2012;97(9):2990-3011. (PMID: 22723327)

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Colorectal Cancer and Lynch Syndrome

MSH2 Exons 1-7 Inversion Analysis

Forms and Documents

Test Details

MSH2
  • Identify the genetic basis of cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above. Determine appropriate clinical management recommendations based on a molecular diagnosis.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • PCR & Electrophoresis

Ordering

J006
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

N/A
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Baglietto L et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010 Feb;102(3):193-201. (PMID: 20028993)
  2. Bonadona V et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011 Jun;305(22):2304-10. (PMID: 21642682)
  3. Canto M et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID: 23135763)
  4. Cunningham JM et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001 Oct;69(4):780-90. (PMID: 11524701)
  5. Durno CA et al. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID: 20531397)
  6. Li-Chang HH et al. Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype. J Clin Pathol. 2013 Jul;66(7):631-3. (PMID: 23454724)
  7. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  8. Quehenberger F et al. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet.2005 Jun;42(6):491-6. (PMID: 21642682)
  9. Rhees J et al. Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population. Fam Cancer. 2014 Jun;13(2):219-25. (PMID: 24114314)
  10. Senter L et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008 Aug;135(2):419-28. (PMID: 18602922)
  11. Vasen HF et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996 Apr;110(4):1020-7. (PMID: 8612988)
  12. Weissman SM et al. Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.J Genet Couns. 2011 Feb;20(1):5-19. (PMID: 20931355)
  13. Wimmer K et al. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID: 20442441)
Lynch/Colorectal High Risk Panel

Forms and Documents

Test Details

APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2
  • Identify the genetic basis of cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
  • Determine appropriate clinical management recommendations based on a molecular diagnosis.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B522
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81292x1, 81294x1, 81295x1, 81297x1, 81317x1, 81298x1, 81300x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Baglietto L et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010 Feb;102(3):193-201. (PMID: 20028993)
  2. Balaguer F et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol. 2007;5:379–87. (PMID:17368238)
  3. Barnetson RA et al. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet. 2007 Dec;72(6):551-5. (PMID: 17956577)
  4. Bonadona V et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011 Jun;305(22):2304-10. (PMID: 21642682)
  5. Bonpari KS et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology. 2008 Dec;135(6):2014-8. (PMID: 19013464)
  6. Cleary SP et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology. 2009;136:1251–60. (PMID:19245865)
  7. Croitoru ME et al. Association Between Biallelic and Monoallelic Germline MYH Gene Mutations and Colorectal Cancer Risk. JNCI. 2004;96:1631–4. (PMID:15523092)
  8. Durno CA et al. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID:20531397)
  9. Farrington SM et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet. 2005;77:112–9. (PMID:15931596)
  10. Jasperson KW et al. Hereditary and Familial Colon Cancer. Gastroenterology. 2010 Jun;138(6):2044-58 (PMID: 20420945)
  11. Jasperson KW. Genetic testing by cancer site: colon (polyposis syndromes). Cancer J. 2012 Jul-Aug;18(4):328-33. (PMID: 22846733)
  12. Jenkins MA et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006;15:312-14. (PMID: 16492921)
  13. Li-Chang HH et al. Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype. J Clin Pathol. 2013 Jul;66(7):631-3. (PMID: 23454724)
  14. Lubbe SJ et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutations. J Clin Oncol. 2009;27:3975-80. (PMID: 19620482)
  15. Out AA et al. MUTYH gene variants and breast cancer in a Dutch case-control study. Breast Cancer Res Treat. 2012 Jul;134(1):219-27. ( PMID:22297469)
  16. Quehenberger F et al. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet.2005 Jun;42(6):491-6. (PMID: 21642682)
  17. Rennert G et al. MutYH mutation carriers have increased breast cancer risk. Cancer. 2012 Apr;118(8):1989-93. (PMID: 21952991)
  18. Santonocito C et al. Common genetic variants of MUTYH are not associated with cutaneous malignant melanoma: application of molecular screening by means of high-resolution melting technique in a pilot case-control study. Int J Biol Markers. 2011 Jan-Mar;26
  19. Senter L et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008 Aug;135(2):419-28. (PMID: 18602922)
  20. Sieber OM et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003 Feb 27;348(9):791-9. (PMID:12606733)
  21. Vasen HF et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996 Apr;110(4):1020-7. (PMID: 8612988)
  22. Vogt S. et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976-85. (PMID: 19732775)
  23. Weissman SM et al. Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.J Genet Couns. 2011 Feb;20(1):5-19. (PMID: 20931355)
  24. Wimmer K et al. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID:20442441)
  25. Win AK et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer. 2011 Nov 1;129(9):2256-62. (PMID: 21171015)
  26. Win AK et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol. 2012 Mar;30(9):958-64. (PMID: 22331944)
Colorectal Cancer Panel

Forms and Documents

Test Details

APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SCG5/GREM1, SMAD4, STK11, TP53
  • The family history is suggestive of a predisposition to colorectal cancer. Although FAP and Lynch syndrome are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of both types of cancer. The OncogeneDx Colorectal Cancer panel includes analysis of FAP and Lynch syndrome associated genes as well as 12 other genes affecting colorectal cancer risk. Thus, the OncogeneDx Colorectal Cancer panel offers increased clinical sensitivity compared to testing only for FAP and Lynch syndrome associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering APC testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple individuals with colorectal cancer and/or multiple colorectal adenomas, this may be associated with a hereditary colorectal cancer syndrome such as APC or MAP.
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncogeneDx includes genes whose role in cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.

The family history is suggestive of a predisposition to colorectal cancer. Although FAP and Lynch syndrome are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of both types of cancer. The OncogeneDx Colorectal Cancer panel includes analysis of FAP and Lynch syndrome associated genes as well as 12 other genes affecting colorectal cancer risk. Thus, the OncogeneDx Colorectal Cancer panel offers increased clinical sensitivity compared to testing only for FAP and Lynch syndrome associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering APC testing followed by additional genetic testing, if negative).

The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple individuals with colorectal cancer and/or multiple colorectal adenomas, this may be associated with a hereditary colorectal cancer syndrome such as APC or MAP.

Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncogeneDx includes genes whose role in cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.

  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B274
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81435x1, 81436x1, 81404x1, 81405x2, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID 20531397)
  3. NCCN Guidelines. Gastric Cancer. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [July 2014 accessed].
  4. NCCN BR/OV Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  5. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  6. NCCN CRC Guidelines. Colorectal Cancer Screening. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  7. Rasool S et al. A comparative overview of general risk factors associated with the incidence of colorectal cancer. Tumour Biol. 2013 July 6 [Epub ahead of print]. (PMID 23832537)
  8. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July2013 accessed].
  9. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Endometrial Cancer Panel

Forms and Documents

Test Details

BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, TP53
  • The family history is suggestive of a predisposition to hereditary endometrial cancer. Although the Lynch syndrome-associated genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of endometrial cancer. The OncogeneDx Endometrial Cancer panel includes analysis of the Lynch syndrome genes as well as 6 other genes associated with increased endometrial cancer risk. Thus, the OncogeneDx Endometrial Cancer panel offers increased clinical sensitivity compared to testing only for the Lynch syndrome-associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering testing for the Lynch syndrome-associated genes followed by additional genetic testing).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of endometrial cancer, this may be associated with a cancer syndrome such as Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) or PTEN Hamartoma Tumor Syndrome (PTEN).
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncogeneDx includes genes whose role in endometrial cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B344
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81211x1, 81292x1, 81295x1, 81298x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010;105(11):2449-56. (PMID 20531397)
  3. Hampel et al. Comment on: screening for Lynch Syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2007;67:9603. (PMID 17909073)
  4. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  5. NCCN Guidelines. Colorectal Cancer Screening. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  6. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  7. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  8. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  9. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
  10. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].
  11. Setiawan VW et al. Type I and II Endometrial Cancers: Have They Different Risk Factors? J Clin Oncol. 2013 Jul 10;31(20):2607-18. (PMID 23733771)
  12. Tutlewska K, Lubinski J, and Kurzawski G. Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review. Hered Cancer Clin Pract. 2013;11(1):9. (PMID 23938213)
  13. Wimmer K and Kratz CP. Constitutional mismatch repair?deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Single-Gene & Other Hereditary Cancer Testing

CDC73 (HRPT2) Gene Sequencing and Del/Dup

Forms and Documents

Test Details

CDC73 (HRPT2)
  • Confirm the clinical diagnosis of HPT-JT
  • Determine the genetic etiology of FIHP
  • Identification of germline mutations in patients with apparent sporadic parathyroid carcinoma
  • Differentiation between HPT-JT and other familial endocrine neoplasia syndromes with parathyroid involvement (i.e., multiple endocrine neoplasia type I caused by mutations in the MEN1 gene and multiple endocrine neoplasia type 2 caused by mutations in the RET gene)
  • Identification of relatives at risk for parathyroid malignancy and the clinical manifestations of HPT-JT
  • Establishment of a medical management plan (including surveillance for parathyroid tumors, ossifying tumors, and renal cysts) for at-risk individuals
  • Capillary Sequencing
  • Exon Array CGH

Ordering

721
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Masi et al., (2008) Endocr Relat Cancer 15(4):1115-1126.
  2. Carpten, J. D. et al., (2002) Nature Genet 32: 676-80.
  3. Shattuck, T. et al., (2003) N Engl J Med 349: 1722-9.
  4. Villablanca, A. et al., (2004) J Med Genet 41: e32.
  5. Warner, J. et al., (2004)J Med Genet 41: 155-60.
  6. Mizusawa, N. et al., (2006) Clin Endocrinol 65: 9-16.
  7. Cascon et al., (2011) Genes Chromosomes Cancer 50(11):922-929.
  8. Domingues et al., (2012) Clin Endocrinol 76(1):33-38.
MEN1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

MEN1
  • Confirmation of a clinical diagnosis
  • To differentiate MEN1-related FIHP from other causes (mutations in CASR or HRPT2 genes)
  • Identification of at-risk family members
  • To determine appropriate surveillance and treatment protocols
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

719
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81404x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Agarwal S. et al., Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type1 and related states. Hum Mol Genet. 6: 1169-1175, 1997
  2. Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62: 232- 244, 1998
  3. Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet. 63: 455-467, 1998
  4. Bergman, L. et al., Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer. 62:1009-1014, 2000
  5. Cavaco, BM. et al., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clin Endocrinol. 56:465-473, 2002
  6. Klein, RD. et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 7:131-138, 2005
  7. Warner, J. et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41:155-160, 2004
  8. Villablanca, A. et al. Involvement of the MEN1 locus in familial isolated hyperparathyroidism. Eur J Endocrinol. 147: 313-322, 2002
  9. Pannett, AA. et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 58:639-646, 2003.
TP53 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

TP53
  • Confirmation of a clinical diagnosis
  • Differentiation between hereditary breast and ovarian cancer syndrome (BRCA1, BRCA2 genes)
  • Identification of family members at-risk to develop cancers related to LFS
  • To determine an appropriate surveillance and treatment protocol
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing
  • Exon Array CGH

Ordering

718
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x1
No
Yes
  • 191 Malignant neoplasm of brain Excludes: cranial nerves (192.0) retrobulbar area (190.1)
  • 171 Malignant neoplasm of connective and other soft tissue Includes: blood vessel bursa fascia fat ligament, except uterine muscle peripheral, sympathetic, and parasympathetic nerves and ganglia synovia tendon (sheath) Excludes: cartilage (of): articular (170.0-170.9) larynx (161.3) nose (160.0) connective tissue: breast (174.0-175.9) internal organs code to malignant neoplasm of the site [e.g., leiomyosarcoma of stomach, 151.9] heart (164.1) uterine ligament (183.4)
  • 174 Malignant neoplasm of female breast Includes: breast (female) connective tissue soft parts
  • 194 Malignant neoplasm of other endocrine glands and related structures Excludes: islets of Langerhans (157.4) neuroendocrine tumors (209.00-209.69) ovary (183.0) testis (186.0-186.9) thymus (164.0)
* For price inquiries please email zebras@genedx.com

References

  1. Birch et al., (1994) Cancer Res 54 :1298-1304.
  2. Bougeard et al., (2003) Oncogene 22:840-846.
  3. Eeles et al., (1995) Cancer Surv 25 :101-124.
  4. Ginsburg et al., (2009) Fam Cancer 8:563-567.
  5. Gonzalez et al., (2009) J Clin Oncol 27:1250-1256.
  6. Gonzalez et al., (2009) J Med Genet 46 :689-693.
  7. Li et al., (1988) Cancer Res 48:5358-5362.
  8. Tinat et al., (2009) J Clin Oncol 27(26):e108-e109.
  9. Varley et al., (2003) Hum Mutat 21:313-320.
BMPR1A, SMAD4 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

BMPR1A, SMAD4
  • Confirmation of a clinical diagnosis
  • Differentiation of JPS from other hereditary hamartomatous polyposis syndromes (PTEN-related disorders, Gorlin syndrome)
  • Identification of family members at-risk for juvenile polyposis
  • To determine an appropriate surveillance and treatment protocol
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing
  • Exon Array CGH

Ordering

717
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1, 81479x1
No
Yes
  • 211.3 Colon Appendix Cecum Ileocecal valve Large intestine NOS Excludes: benign carcinoid tumors of the large intestine (209.50-209.56) rectosigmoid junction (211.4)
  • 448.0 Hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease
* For price inquiries please email zebras@genedx.com

References

  1. Aretz et al., (2007) J Med Genet 44:702-709.
  2. Gallione et al., (2010) Am J Med Genet Part A 152A:333-339.
  3. Aretz et al., (2007) J Med Genet 44:702-709.
  4. Van Hattem et al., (2008) Gut 57:623-627.
PRKAR1A Gene Sequencing & Del/Dup

Forms and Documents

Test Details

PRKAR1A
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

715
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • m884 Carney Complex (Myxomatous tumors)
* For price inquiries please email zebras@genedx.com

References

  1. Groussin et al., Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and PPNAD reveals novel mutations and clue for pathophysiology: Augmented PKA signaling is associat
  2. Horvath et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006; 38(7):794-800
  3. Horvath et al., Large deletions of the PRKAR1A gene in Carney Complex. Clin Cancer Res. 2008; 14(2):388
  4. Casey, Maired et al., Mutations in the protein kinase A R1alpha regulartory subunit cause familial cardiac myxomas and Carney complex J of Clin Invest 106: R31-R38 (2000)
  5. Kirschner, Lawrence S et al., Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with Carney complex Nat Genet 26(1):89-92 (2000)
FLCN Gene Sequencing and Del/Dup

Forms and Documents

Test Details

FLCN
  • Confirmation of clinical diagnosis
  • Identification of those individuals at risk for renal cancer (and other BHD-associated features) who first present with skin findings
  • Identification of at-risk family members
  • Recurrence risk calculation
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

714
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Schmidt, L. et al., (2005) Am J Hum Genet. 76: 39-44.
  2. Painter, J. et al., (2005) Am J Hum Genet. 76: 522-27
  3. Graham, R. et al., (2005) Am J Respir Crit Care Med. 172: 39-44.
  4. Kunogi, M. et al., (2010) J Med Genet 47:281-287.
  5. Benhammou et al., (2011) Genes Chromosomes Cancer 50:466-477.
FH Gene Sequencing & Del/Dup

Forms and Documents

Test Details

FH
  • Confirmation of a clinical diagnosis
  • To differentiate HLRCC from other hereditary cancer predisposition syndromes such as VHL and BHD
  • To determine an appropriate medical surveillance and treatment plan for at risk family members
  • Carrier testing for parents of a child with FHD
  • Risk assessment
  • Prenatal diagnosis in FHD families with known mutations
  • Capillary Sequencing
  • Exon Array CGH

Ordering

713
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ricketts C et al. J Natl Cancer Inst 2008; 100:1260-126
  2. Wei M-H. et al., Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet. 2006; 43:18-27
  3. Toro, J.R. et al., Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America. Am J Hum Genet. 2003; 73:95-106
  4. Alam, N.A. et al., Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis, renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003; 12:1241-1252
  5. Ahvenainen et al. Cancer Genet Cyto 2008; 183:83-88
TP53 Gene Sequencing

Forms and Documents

Test Details

TP53
  • Confirmation of a clinical diagnosis
  • Differentiation between hereditary breast and ovarian cancer syndrome (BRCA1, BRCA2 genes)
  • Identification of family members at-risk to develop cancers related to LFS
  • To determine an appropriate surveillance and treatment protocol
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing

Ordering

559
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 191 Malignant neoplasm of brain Excludes: cranial nerves (192.0) retrobulbar area (190.1)
  • 171 Malignant neoplasm of connective and other soft tissue Includes: blood vessel bursa fascia fat ligament, except uterine muscle peripheral, sympathetic, and parasympathetic nerves and ganglia synovia tendon (sheath) Excludes: cartilage (of): articular (170.0-170.9) larynx (161.3) nose (160.0) connective tissue: breast (174.0-175.9) internal organs code to malignant neoplasm of the site [e.g., leiomyosarcoma of stomach, 151.9] heart (164.1) uterine ligament (183.4)
  • 174 Malignant neoplasm of female breast Includes: breast (female) connective tissue soft parts
  • 194 Malignant neoplasm of other endocrine glands and related structures Excludes: islets of Langerhans (157.4) neuroendocrine tumors (209.00-209.69) ovary (183.0) testis (186.0-186.9) thymus (164.0)
* For price inquiries please email zebras@genedx.com

References

  1. Birch et al., (1994) Cancer Res 54 :1298-1304.
  2. Bougeard et al., (2003) Oncogene 22:840-846.
  3. Eeles et al., (1995) Cancer Surv 25 :101-124.
  4. Ginsburg et al., (2009) Fam Cancer 8:563-567.
  5. Gonzalez et al., (2009) J Clin Oncol 27:1250-1256.
  6. Gonzalez et al., (2009) J Med Genet 46 :689-693.
  7. Li et al., (1988) Cancer Res 48:5358-5362.
  8. Tinat et al., (2009) J Clin Oncol 27(26):e108-e109.
  9. Varley et al., (2003) Hum Mutat 21:313-320.
BLM Gene Sequencing

Forms and Documents

Test Details

BLM
  • Confirmation of a clinical diagnosis or positive cytogenetic testing for sister chromatid exchange (SCE)
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
  • Capillary Sequencing

Ordering

372
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81209x1, 81479x1
No
Yes
  • v84.09 Genetic susceptibility to other malignant neoplasm
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 783.43 Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
* For price inquiries please email zebras@genedx.com

References

  1. Hickson, I et al., (2001) Biochem Soc Trans. 29:201-204.
  2. http://bioinf.uta.fi/BLMbase/
  3. Roa, B et al., (1999) Genet Test. 3(2): 219-221.
  4. German, J et al., (2007) Hum Mut. 28(8):743-753.
  5. Ellis, N et al., (1998) Am J Hum Genet. 63:1685-1693.
  6. Ellis, N et al., (1995) Cell. 83:655-666.
  7. Ellis, N et al., (1994) Am J Hum Genet. 55:453-460.
VHL Gene Sequencing & Del/Dup

Forms and Documents

Test Details

VHL
  • Confirmation of a clinical diagnosis
  • Presymptomatic diagnosis of VHL
  • To differentiate VHL from the other hereditary cancer syndromes: HLRCC, BHD, MEN2A, MEN2B and PGL/PCC
  • To determine an appropriate medical surveillance and treatment plan for VHL and CP
  • Risk assessment
  • Identification of at-risk family members
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing
  • Exon Array CGH

Ordering

332
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x1
No
Yes
  • 194 Malignant neoplasm of other endocrine glands and related structures Excludes: islets of Langerhans (157.4) neuroendocrine tumors (209.00-209.69) ovary (183.0) testis (186.0-186.9) thymus (164.0)
  • 255.6 Medulloadrenal hyperfunction, Catecholamine secretion by pheochromocytoma
  • 215 Other benign neoplasm of connective and other soft tissue
  • 759.6 Other hamartoses, NEC Syndrome: Peutz-Jeghers Sturge-Weber (-Dimitri), von Hippel-Lindau
  • 289.8 Other specified diseases of blood and blood-forming organs
* For price inquiries please email zebras@genedx.com

References

  1. The Human Gene Mutation Database (HGMD), Institute of Medical Genetics in Cardiff, 2008. www.hgmd.cf.uk/ac/index.php
  2. Wong WT et al. Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Arch Ophthalmol 2007;125(2):239-45
  3. Shehata BM et al., Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects. Adv Anat Pathol 2008;15(3):165-71
  4. Couch V et al. von Hippel-Lindau Disease. Review. Mayo Clin Proc 75:265-272, 2000
  5. Hoebeeck J et al. Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest 2005;85(1):24-33
  6. Stolle C et al., Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 1998;12(6):417-23
  7. Bento M et al., Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica 90:128-129, 2005
  8. Mannelli M et al. Genetics and biology of pheochromocytoma. Exp Clin Endocrinol Diabetes 2007;115(3):160-5
  9. Kaelin WG, Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002;2(9):673-82
  10. Liu E et al., The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood 2004;103(5):1937-40
  11. Pastore Y et al., Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia. Am J Hum Genet 73:412-419, 2003
  12. Cario H et al., Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Haematologica 90(1): 19-24, 2005
  13. Maher ER et al., Phenotypic expression in von Hippel-Lindau Disease. J Med Genet 33:328-332, 1996
STK11 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

STK11
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Determination of appropriate screening and treatment
  • Prenatal diagnosis
  • Capillary Sequencing
  • MLPA

Ordering

2071
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x1
Yes
Yes
  • 759.6.1 Peutz-Jeghers syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Aretz, S. et al., High Proportion on Large Genomic STK11 Deletions in Peutz-Jeghers Syndrome. Human Mutation 12: 513-519, 2005
  2. Chow, E. et al. An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. Clin Genet. 70:409-414, 2006
  3. Mehenni, H. et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jehgers syndrome. Dig Dis Sci. 52:1924-1933, 2007
PTCH1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

PTCH1
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Determination of appropriate screening and treatment
  • Prenatal diagnosis in at-risk pregnancies with a known familial variant
  • Capillary Sequencing
  • Exon Array CGH

Ordering

205
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Klein, R. et al., Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med. 7: 611-19, 2005
  2. Wicking, C. et al., Most Germ-Line Mutations in the Nevoid Basal Cell Carcinoma Syndrome Lead to a Premature Termination of the PATCHED Protein, and No Genotype-Phenotype Correlations Are Evident. Am J Hum Genet. 60: 21-26, 1997
  3. Lindström, E. et al., PTCH Mutations: Distribution and Analyses. Hum Mutat. 27: 215-19, 2006
  4. Benhamed S and Bale S. Gorlin Syndrome: A substantial proportion of previously “missing” mutations are large PTCH deletions. ASHG Abstract presented 2008.
PTEN Gene Sequencing and Del/Dup

Forms and Documents

Test Details

PTEN
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Determination of appropriate screening and treatment
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

195
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81321x1, 81323x1
Yes
Yes
  • v12.72 Colonic polyps
  • 214 Lipoma Includes: angiolipoma fibrolipoma hibernoma lipoma (fetal) (infiltrating) (intramuscular) myelolipoma myxolipoma
  • 174 Malignant neoplasm of female breast Includes: breast (female) connective tissue soft parts
  • 742.4 Other specified anomalies of brain, Congenital cerebral cyst, Macroencephaly, Macrogyria, Megalencephaly, Multiple anomalies of brain NOS, Porencephaly Ulegyria
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Eng, C. Hum Mutat. 22: 183-98, 2003
  2. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
  3. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  4. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  5. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
  6. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  7. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  8. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002
RET Gene Sequencing

Forms and Documents

Test Details

RET
  • Confirmation of a clinical diagnosis
  • Determination of appropriate screening and surgical management
  • Genetic counseling
  • Identification of at-risk family members
  • Capillary Sequencing

Ordering

1771
3 weeks
2-5 mL Blood - Lavender Top Tube
20 mL Amniotic Fluid|Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Mulligan, L.M. et al., Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med. 238: 343-6, 1995.
  2. Elisei, R et al., RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocrinol Metab 92(12)4725-4729, 2007.
  3. Heshmati HM, et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 72(5):430-436, 1997.
  4. Wiench M et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5):1374-1380, 2001.
  5. Shirahama S et al. Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J Hum Genet 43:101-106, 1998.
  6. Mulligan, L.M. et al., Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 6: 70-4, 1994.
  7. Eng, C. et al., Point mutation within the tyrosine kinase domain of the RET-proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet. 3: 237-41, 1994.
  8. Gimm, O. et al., Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab. 82: 3902-4, 1997.
  9. Yip, L. et al., Multiple Endocrine Neoplasia Type 2: Evaluation of the Genotype-Phenotype Relationship. Arch Surg. 138: 409-16, 2003.
Endometrial Cancer Panel

Forms and Documents

Test Details

BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, TP53
  • The family history is suggestive of a predisposition to hereditary endometrial cancer. Although the Lynch syndrome-associated genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of endometrial cancer. The OncogeneDx Endometrial Cancer panel includes analysis of the Lynch syndrome genes as well as 6 other genes associated with increased endometrial cancer risk. Thus, the OncogeneDx Endometrial Cancer panel offers increased clinical sensitivity compared to testing only for the Lynch syndrome-associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering testing for the Lynch syndrome-associated genes followed by additional genetic testing).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of endometrial cancer, this may be associated with a cancer syndrome such as Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) or PTEN Hamartoma Tumor Syndrome (PTEN).
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncogeneDx includes genes whose role in endometrial cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B344
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81211x1, 81292x1, 81295x1, 81298x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010;105(11):2449-56. (PMID 20531397)
  3. Hampel et al. Comment on: screening for Lynch Syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2007;67:9603. (PMID 17909073)
  4. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  5. NCCN Guidelines. Colorectal Cancer Screening. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  6. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  7. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  8. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  9. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
  10. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].
  11. Setiawan VW et al. Type I and II Endometrial Cancers: Have They Different Risk Factors? J Clin Oncol. 2013 Jul 10;31(20):2607-18. (PMID 23733771)
  12. Tutlewska K, Lubinski J, and Kurzawski G. Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review. Hered Cancer Clin Pract. 2013;11(1):9. (PMID 23938213)
  13. Wimmer K and Kratz CP. Constitutional mismatch repair?deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Pancreatic Cancer Panel

Forms and Documents

Test Details

APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL, XRCC2
  • The family history is suggestive of a predisposition to pancreatic cancer. Although the BRCA2, PALB2, CDKN2A, STK11, ATM, and Lynch syndrome genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of pancreatic cancer. The OncogeneDx Pancreatic Cancer panel includes analysis of these genes as well as 6 other genes affecting pancreatic cancer risk. Thus, the OncogeneDx Pancreatic Cancer panel offers increased clinical sensitivity compared to testing only for the most commonly associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering BRCA2 testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple types of cancer, such as breast cancer in addition to pancreatic cancer, this may be associated with a cancer syndrome such as BRCA1 or BRCA2 or Peutz-Jehgers syndrome (STK11).
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncogeneDx includes genes whose role in cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B343
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81201x1, 81404x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID 20531397)
  3. Eckerle Mize D, Bishop M, Resse E, and Sluzevich J (2009). Familial Atypical Multiple Mole Melanoma Syndrome. In Riegert-Johnson DL, Boardman LA, Hefferon T, and Roberts M (Eds), Cancer Syndromes [Internet]. Bethesda (MD): NCBI.
  4. Frantzen C, Links TP, and Giles RH. Von Hippel-Lindau Disease. (2000 [updated 2012]). In Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, and Stephens K (Eds), GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.
  5. Grover S, Syngal S. Hereditary pancreatic cancer. Gastroenterol 2010 Oct;139(4):1076-80. (PMID 20727885)
  6. Lowenfels AB and Maisonneuve P. Epidemiology and risk factors for pancreatic cancer. Best Pract Res Clin Gastroenterol. 2006 Apr;20(2):197-209. (PMID 16549324)
  7. Lynch HT, Smyrk, Kern SE, et al. Familial pancreatic cancer: a review. Semin Oncol. 1996 Apr;23(2):251-75. (PMID 8623061)
  8. Brand RE, Lynch HT. Hereditary pancreatic adenocarcinoma. A clinical perspective. Med Clin North Am. 2000 May;84(3):665-75. (PMID 10872423)
  9. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].
  10. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Pediatric Tumor Panel

Forms and Documents

Test Details

ALK, APC, CDC73 (HRPT2), DICER1, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, NF2, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, RET, SMARCA4, SMARCB1, STK11, SUFU, TP53, TSC1, TSC2, VHL, WT1
  • The family history or tumor type is suggestive of a predisposition to pediatric cancer. The OncoGeneDx Pediatric Tumor Panel offers increased clinical sensitivity compared to testing only for the genes most commonly associated with pediatric cancer susceptibility. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering TP53 testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the child’s personal and/or family history consists of multiple types of tumors or cancer such as a pediatric brain tumor in addition to a hematological malignancy, this may be associated with a cancer syndrome such as Li-Fraumeni syndrome or CMMRD syndrome.
  • Genetic testing has already been ordered due to a personal or family history suggestive of a hereditary cancer predisposition and all results have been negative. OncoGeneDx Pediatric Tumor Panel includes genes whose role in cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J318
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81201x1 81203x1 81405x1 81406x1 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Auber F et al. Management of Wilms tumors in Drash and Frasier syndromes. Pediatric Blood & Cancer. 2009 Jan 52(1):55?9. (PMID: 18816692)
  2. American Cancer Society. Special Section: Cancer in Children & Adolescents. Cancer Facts & Figures. 2014
  3. American Thyroid Association. http://www.thyroid.org
  4. Bree AF et al. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011 Sep;155A(9):2091?7. doi: 10.1002/ajmg.a.34128. (PMID: 21834049)
  5. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339?47. (PMID 23135763)
  6. Correa R et al. Carney complex: an update. Eur J Endocrinol. 2015 Oct;173(4):M85?97. (PMID: 26130139)
  7. Dome JS, Huff V. Wilms Tumor Overview. 2003 Dec 19 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  8. Doros L, Schultz KA, Stewart DR, et al. DICER1?Related Disorders. 2014 Apr 24. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  9. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449?56. (PMID 20531397)
  10. Evans DG et al. Genetic testing and screening g of individuals at risk of NF2. Clin Genet. 2012 Nov;82(5):416?24. (PMID: 22098617)
  11. Evans DG, Farndon PA. Nevoid Basal Cell Carcinoma Syndrome. 2002 Jun 20 [Updated 2015 Oct 1]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  12. Frantzen C, Klasson TD, Links TP, et al. Von Hippel?Lindau Syndrome. 2000 May 17 [Updated 2015 Aug 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  13. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  14. Greengard EG, Park JR. ALK?Related Neuroblastic Tumor Susceptibility. 2010 Jan 5 [Updated 2015 Apr 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  15. Jackson MA, Rich TA, Hu MI, et al. CDC73?Related Disorders. 2008 Dec 31 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  16. Krueger DA et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):255?65. (PMID: 24053983)
  17. Lohmann DR, Gallie BL. Retinoblastoma. 2000 Jul 18 [Updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  18. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed].
  19. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  20. NCCN Guidelines. Thyroid Carcinoma. (URL: http://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf) [February 2016 accessed].
  21. Parsons DW et al. Diagnostic Yield of Clinical Tumor and Germline Whole?Exome Sequencing for Children With Solid Tumors. Jama Oncology. 2016 Jan 28. (PMID: 26822237)
  22. Plon SE and Nathanson K. Inherited Susceptibility for Pediatric Cancer. Cancer J. 2005 Jul?Aug. (PMID:16197716)
  23. Richards CS et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008 Apr;10(4):294?300.
  24. Scott RH et al. Surveillance for Wilms tumour in at?risk children: pragmatic recommendations for best practice. Archives Of Disease In Childhood. 2006 Dec 91(12):995?9. PMID: (16857697)
  25. Stratakis C et al. Clinical and Molecular Features of the Carney Complex: Diagnostic Criteria and Recommendations for Patient Evaluation J Clin Endocrinol Metab. 2001 Sep;86(9):4041?6. (PMID: 11549623)
  26. The Endocrine Society. https://www.endocrine.org/
  27. Weese?Mayer DE et al. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15;181(6):626?44. (PMID: 20208042)
  28. Weese?Mayer DE, Marazita ML, Rand CM, et al. Congenital Central Hypoventilation Syndrome. 2004 Jan 28 [Updated 2014 Jan 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 199
  29. Wimmer K and Kratz CP. Constitutional mismatch repair?deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
  30. Zhang J et al. Germline Mutations in Predisposition Genes in Pediatric Cancer. The New England Journal Of Medicine. 2015 Nov 18. (PMID 26580448)
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Forms and Documents

Test Details

FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
  • The family history is suggestive of a predisposition to PGL/PCC. Although SDHB, SDHC, and SDHD are the genes that are the most often associated with classic forms of hereditary paraganglioma/pheochromocytoma syndrome, there are several other genes that cause an increased risk of these tumors. The OncoGeneDx PGL/PCC Panel includes analysis of these genes as well as nine other genes affecting PCC/PGL risk. Thus, the OncoGeneDx PGL/PCC Panel offers increased clinical sensitivity compared to testing only for the most commonly associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering SDHB testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary syndromes. For example, if the family history consists of multiple types of tumors or cancers, such as paraganglioma in addition to renal cancer, this may be associated with a syndrome such as VHL or hereditary PGL/PCC syndrome.
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary tumor predisposition and all results have been negative. OncoGeneDx PGL/PCC Panel includes genes whose role in cancer/tumor predisposition has been described recently in addition to genes associated with classic hereditary tumor syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B395
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x3, 81405x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. American Thyroid et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009 Jun;19(6):565-612.
  2. Bryant J et al. Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst. 2003 Aug 20;95(16):1196-204. (PMID: 12928344)
  3. Coughlin EM et al. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62.9635293 (PMID: 9635293)
  4. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/
  5. Gellera C et al. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology. 1990 Mar;40(3 Pt 1):495-9. 2314594 (PMID: 2314594)
  6. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  7. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42. (PMID: 24893135)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. Mroch AR et al. Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. Am J Med Genet A. 2012 Jan;158A(1):155-8. (PMID: 22069215)
  10. NCCN Guidelines. Thyroid Carcinoma. Version 2.2015 (URL: http://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf) November 2015 accessed.
  11. Thakker et al. Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of Clinical Endocrinology and Metabolism. 2012;97(9):2990-3011. (PMID: 22723327)
Hereditary Prostate Cancer Panel

Forms and Documents

Test Details

ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53
  • The family history is suggestive of a predisposition to hereditary prostate cancer especially if the prostate cancer was diagnosed at an early age, was metastatic/aggressive, or multiple family members were diagnosed with prostate cancer. Although the BRCA1 and BRCA2 genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of prostate cancer or have been associated with more aggressive forms of prostate cancer. The OncogeneDx Prostate Cancer panel includes analysis of the BRCA1 and BRCA2 genes as well as 10 other genes that have been observed in patients and/or families with prostate cancer. Thus, the OncogeneDx Prostate Cancer panel offers increased clinical sensitivity compared to testing only for the BRCA1 and BRCA2 genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering testing for the BRCA1 and BRCA2 genes followed by additional genetic testing).
  • The differential diagnosis includes various cancer predisposition genes. For example, if the family history consists of multiple relatives diagnosed with prostate cancer and breast cancer, this may be associated with several cancer predisposition genes including BRCA1, BRCA2, CHEK2, among others.
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. The OncogeneDx Prostate Cancer panel includes genes whose role in prostate cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J665
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81405x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Carter BS et al. Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3367-71. (PMID: 1565627)
  2. Cybulski C et al. An inherited NBN mutation is associated with poor prognosis prostate cancer. British Journal Of Cancer. 2013 Feb 5 108(2):461-8. (PMID: 23149842)
  3. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID: 20531397)
  4. Huang H and Cai B. G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis. Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine. 2014 Feb 35(2):1177-82. (PMID: 24026887)
  5. Hwang SJ et al. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. American Journal Of Human Genetics. 2003 72(4):975-83. (PMID: 12610779)
  6. Lowenfels AB and Maisonneuve P. Epidemiology and risk factors for pancreatic cancer. Best Pract Res Clin Gastroenterol. 2006 Apr;20(2):197-209. (PMID: 16549324)
  7. Pritchard CC et al. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. The New England Journal Of Medicine. 2016 Jul 6. (PMID: 27433846)
  8. Ryan S et al. Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis. Cancer Epidemiology, Biomarkers & Prevention: A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive
  9. Thompson D, Easton DF, and the Breast Cancer Linkage Consortium. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002 Sep;94(18):1358-65. (PMID: 12237281)
  10. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2012: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2016 accessed].
  11. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID: 20442441)
Renal Cancer Panel

Forms and Documents

Test Details

BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
  • The family history is suggestive of a predisposition to renal cancer. Although VHL, MET, FLCN, FH, TSC1 and TSC2 are the genes that are the most often associated with classic forms of hereditary renal cancer, there are several other genes that cause an increased risk of renal cancer. The OncoGeneDx Renal Cancer panel includes analysis of these genes as well as 12 other genes affecting renal cancer risk. Thus, the OncoGeneDx Renal Cancer panel offers increased clinical sensitivity compared to testing only for the most commonly associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering VHL testing followed by additional genetic testing, if negative).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple types of cancer, such as renal cancer in addition to pancreatic cancer, this may be associated with a cancer syndrome such as VHL or Lynch syndrome.
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncoGeneDx Renal Cancer Panel includes genes whose role in cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

B394
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x1, 81405x1, 81406x1, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Coleman JA and Russo P. Hereditary and familial kidney cancer. Current Opinion In Urology. 2009 Sep 19(5):478-85. (PMID: 19584731)
  3. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID 20531397)
  4. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  5. Krueger DA et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):255-65. (PMID: 24053983)
  6. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42.(PMID: 24893135)
  7. Menko FH et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009 Dec;10(12):1199-206. (PMID: 19959076)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed]
  10. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed]
  11. Rini BI et al. Renal cell carcinoma. Current Opinion In Oncology. 2006 May 18(3):289-96 (PMID: 16552243)
  12. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed]
  13. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Familial Cutaneous Malignant Melanoma

Forms and Documents

Test Details

CDK4, CDKN2A
  • Identification of a hereditary susceptibility to malignant melanoma
  • Development of a clinical surveillance plan for early detection
  • Identification of at-risk family members
  • Capillary Sequencing
  • Exon Array CGH

Ordering

B399
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Begg CB et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005 Oct 19;97(20):1507-15. (PMID: 16234564)
  2. Bishop DT et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. (PMID: 12072543)
  3. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID: 23135763)
  4. de Snoo FA et al. Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res. 2008 Nov 1;14(21):7151-7. (PMID: 18981015)
  5. Gabree M et al. Clinical applications of melanoma genetics. Curr Treat Options Oncol. 2014 Jun;15(2):336-50. (PMID: 24652319)
  6. Goldstein AM et al. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat. 2004 Jun;23(6):630. (PMID: 15146471)
  7. Goldstein AM et al. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet. 2007 Feb;44(2):99-106. (PMID: 16905682)
  8. Hayward NK et al. Genetics of melanoma predisposition. Oncogene. 2003 May 19;22(20):3053-62. (PMID: 12789280)
  9. Mistry SH et al. Prevalence of 9p21 deletions in UK melanoma families. Genes Chromosomes Cancer. 2005 Nov;44(3):292-300. (PMID: 16032697)
  10. National Cancer Institute. Melanoma. (URL: http://www.cancer.gov/cancertopics/pdq/genetics/skin/HealthProfessional/page4#Section_397) [November 2014 accessed]
  11. Puntervoll HE et al. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet. 2013 Apr;50(4):264-70. (PMID: 23384855)
  12. Randerson-Moor JA et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet. 2001 Jan 1;10(1):55-62. (PMID: 11136714)
  13. Royal College of Physicians and British Association of Dermatologists. The prevention, diagnosis, referral and management of melanoma of the skin; concise guidelines. Concise guidance to good practice series, No 7. London: RCP, 2007 (URL: https://www.rcpl
  14. Rulyal SJ et al. Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. Cancer. 2003 Aug 15;98(4):798-804. (PMID: 12910525)
  15. Sekulic A et al. Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc. 2008 Jul;83(7):825-46. (PMID: 18613999)
  16. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2014 accessed].
  17. van der Ree J et al. Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A. J Am Acad Dermatol. 2011 Aug;65(2):281-8. (PMID: 21570156)
  18. Vasen HF et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16- Leiden). Int J Cancer. 2000 Sep 15;87(6):809-11. (PMID: 10956390)

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Custom Panel

OncoGeneDx Custom Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Identify the genetic basis of cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
  • Determine appropriate clinical management recommendations based on a molecular diagnosis.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B749
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

Varies by Gene
Yes
Yes
* For price inquiries please email zebras@genedx.com

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page