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.
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B362
8-10 days
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

Billing

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

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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)