BRCA1 and BRCA2 Del/Dup

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


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


  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: [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: [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)