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Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

Heidi D. Nelson, Miranda Pappas, Amy Cantor, Elizabeth Haney, Rebecca Holmes
Published: 20 August 2019
 in JAMA
JAMA , Volume 322, pp 666-685; doi: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.
Keywords: Ovarian cancer / cancer / Risk assessment / breast cancer / mutation / genetic counseling / genetic screening / Brca1 Gene / united states preventive services task force

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