Risk Assessment, Genetic Counseling, and Genetic Testing forBRCA-Related Cancer in Women
Open Access
- 20 August 2019
- journal article
- review article
- Published by American Medical Association (AMA) in JAMA
- Vol. 322 (7), 666-685
- https://doi.org/10.1001/jama.2019.8430
Abstract
Pathogenic mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risks for breast, ovarian, fallopian tube, and peritoneal cancer in women, breast cancer in men, and, to a lesser degree, pancreatic and early-onset prostate cancer1-6; BRCA2 is also associated with melanoma.3,4BRCA1/2 mutations cluster in families, exhibiting an autosomal dominant pattern of transmission in either the maternal or paternal lineage. Penetrance, the probability of developing cancer in BRCA1/2 mutation carriers, is variable, and many carriers never develop cancer.This publication has 147 references indexed in Scilit:
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