Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
Open Access
- 7 September 2018
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA Network Open
- Vol. 1 (5), e182140
- https://doi.org/10.1001/jamanetworkopen.2018.2140
Abstract
Pathogenic variants in the BRCA1 (OMIM 113705) and BRCA2 (OMIM 600185) genes were first associated with familial breast cancer risk in the mid-1990s.1,2 Associated risks for ovarian cancer, prostate cancer, pancreatic cancer, and melanoma have since been documented; these clinical associations are grouped as hereditary breast and ovarian cancer (HBOC) syndrome.3Keywords
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