BRCA1/2 Sequencing and Del/Dup analysis

Forms and Documents

Test Details

  • 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


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


* For price inquiries please email


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  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)
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  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)
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  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: [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: [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)