Breast 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

ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, TP53
  • Breast 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)
  • Ovarian cancer or male breast cancer at any age
  • Multiple relatives diagnosed with the same or related cancers (including breast, ovarian, 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

Ordering

J055
2 weeks (8-10 days RUSH for surgical intervention)
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

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)

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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
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

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

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)

Forms and Documents

Test Details

  • 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.
  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J662
8-10 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

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