Ovarian Cancer

Forms and Documents

Test Details

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD51C, RAD51D, RECQL, TP53
  • Breast or endometrial (uterine) cancer diagnosed under 50 years of age
  • Multiple cancers in one person, either of the same origin (such as two separate breast cancers) or of different origins (such as breast cancer and ovarian cancer or endometrial and colon cancer)
  • Ovarian cancer or male breast cancer at any age
  • Multiple relatives diagnosed with the same or related cancers (including breast, ovarian, endometrial, pancreatic and/or prostate) on the same side of the family and spanning multiple generations
  • Ashkenazi Jewish ancestry with a history of breast, ovarian or pancreatic cancer
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B273
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81321x1, 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)

Forms and Documents

Test Details

APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, FH, FLCN, HOXB13, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTEN, RAD51C, RAD51D, RECQL, SCG5/GREM1, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL
  • Cancer at a young age, such as breast, colon, or renal cancer
  • Multiple cancers in one person, either of the same origin (such as two separate colon cancers) or of different origins (such as breast cancer and ovarian cancer)
  • Diagnosis of certain rare cancers, such as ovarian or male breast cancer
  • Multiple relatives diagnosed with the same or related cancers on the same side of the family and spanning multiple generations
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B275
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

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].

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
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

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)

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
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

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)

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
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

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)

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
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

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)

Forms and Documents

Test Details

APC, ATM, AXIN2, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, FH, FLCN, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SCG5/GREM1, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL
  • Cancer at a young age, such as breast or colon cancer
  • Multiple cancers in one person, either of the same origin (such as two separate colon cancers) or of different origins (such as breast cancer and ovarian cancer)
  • Diagnosis of certain rare cancers, such as ovarian or male breast cancer
  • Multiple relatives diagnosed with the same or related cancers on the same side of the family and spanning multiple generations
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B751
2 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.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].

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)

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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
21 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

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