BRCA1 Mutations and Breast Cancer in the General Population
Open Access
- 25 March 1998
- journal article
- research article
- Published by American Medical Association (AMA)
- Vol. 279 (12) , 922-929
- https://doi.org/10.1001/jama.279.12.922
Abstract
ABOUT 5% to 10% of breast cancer patients carry germline mutations that predispose them to inherited disease.1,2 Through genetic linkage studies, BRCA1, a breast and ovarian cancer susceptibility gene,3,4 was identified on chromosome 17q. Cloning and sequencing of BRCA1 revealed 24 exons and 5592 nucleotides.5 Over 130 germline mutations in the coding region are reported in the Breast Cancer Information Core database to date.6 The majority of these result in truncation of the message, leading to absence of functional protein.6Keywords
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