BRCA1 and BRCA2 Gene Mutation Analysis

Hereditary Breast and Ovarian Cancer, Prostate Cancer, Pancreatic Cancer Susceptibility

Inherited breast cancer represents approximately 7% of all breast cancer1. Germline mutations in two major causal genes, BRCA1 and BRCA2, account for up to 80% of strongly familial breast cancers. Mutations are inherited in an autosomal dominant manner, with high (though not complete) penetrance, and have been associated with 40-80% lifetime risk for breast, 11-40% for ovarian, up to 39% for prostate and up to 7% for pancreatic cancer 2-4. Ethnic-specific mutations have also been identified; in particular three common founder mutations in individuals of Ashkenazi Jewish ancestry [c.68_69delAG (BRCA1), c.5266dupC (BRCA1), and c.5946delT (BRCA2)] account for the vast majority of BRCA1/2 associated hereditary breast cancers5. Genetic testing results in familial breast and ovarian cancers can influence medical care in guiding surveillance, management and providing ability to identify other at-risk family members.

To open a printable assay summary in a new window, click the link below.

BRCA1 and BRCA2 Gene Mutation Analysis Assay Summary (in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF)


  1. Claus EB, et al. Cancer. 1996;77(11):2318-24.
  2. Peto J, et al. J Natl Cancer Inst. 1999;91(11):943-9.
  3. Ford D, et al. Am J Hum Genet. 1998;62(3):676-89.
  4. Petrucelli N, et al. BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. 1998 Sep 4 [Updated 2013 Sep 26]. GeneReviews® [Internet]. Available from:
  5. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002;20:1480–90.

Specimen Requirements - Molecular Genetics