current current classified by multiple submitters Pathogenic germline human not provided 1 clinical testing germline human yes clinical testing BRCA1:c.4357+2T>G LRG_292t1:c.4357+2T>G NM_007294.3:c.4357+2T>G LRG_292:g.135582T>G NG_005905.2:g.135582T>G NC_000017.11:g.43082402A>C NC_000017.10:g.41234419A>C U14680.1:n.4476+2T>G U14680.1:intron 13 splice donor variant IVS13+2T>G 17q21.31 breast cancer 1, early onset BRCA1 This gene is cited in the ACMG recommendations of 2013 (PubMed 23788249) for reporting incidental findings in exons. Single site analysis BRCA1:c.4357+2T>G Breast-ovarian cancer, familial 1 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 OVARIAN CANCER, SUSCEPTIBILITY TO BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 Breast cancer, familial 1 Breast-ovarian cancer, familial 1 and 2 BRCA1 Gene Mutation BROVCA1 BRCA1 HBOC Hereditary breast and ovarian cancer syndrome (HBOC), caused by a germline mutation in BRCA1 or BRCA2, is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. The lifetime risk for these cancers in individuals with a mutation in BRCA1 or BRCA2: 40%-80% for breast cancer. 11%-40% for ovarian cancer. 1%-10% for male breast cancer. Up to 39% for prostate cancer. 1%-7% for pancreatic cancer. Individuals with BRCA2 mutations may also be at an increased risk for melanoma. Prognosis for BRCA1/2-related cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 mutations when compared to controls. Autosomal dominant inheritance Variable loss of function 1-5 / 10 000 Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. http://www.ncbi.nlm.nih.gov/books/NBK1247/ Ford et al 1994, Claus et al 1996, Whittemore et al 1997 20301425 19305347 17392385 15604628 17508274 23788249 http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf 20065170 23918944 2948529 current classified by single submitter Pathogenic germline human not provided 1 clinical testing 1 IVS13+2T>G BRCA1 Breast-ovarian cancer, familial 1 current classified by single submitter Pathogenic germline human yes clinical testing IVS13+2T>G U14680.1:intron 13 U14680.1:n.4476+2T>G Breast-ovarian cancer, familial 1