BRCA1 and BRCA2 mutation analysis is performed by next-generation sequencing of all coding exons of the BRCA1 and BRCA2 genes to detect point mutations and small insertions/deletions. This test does not detect large deletions or duplications.
This test is specifically for tumor specimens; please see our Hereditary Cancer Testing menu for germline (peripheral blood) testing requirements.
FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
1. Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1247/ Updated December 15, 2016. Accessed February 21, 2019.
2. Meric-Bernstam F, Brusco L, Daniels M, et al. Incidental germline variants in 1000 advanced cancers on a prospective somatic germline profiling protocol. Ann Oncol. 2016;27:795-800.
3. Judkins T, Rosenthal E, Arnell C, et al. Clinical signficiance of large rearrangements in BRCA1 and BRCA2. Cancer. 2012; 118:5210-5216.
4. Ewald IP, Ribeiro PLI, Palmero EI, et al. Genomic rearrangements in BRCA1 and BRCA2: A literature review. Genet Mol Biol. 2009;32(3):437-446.