Article
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.
Proceedings of the National Academy of Sciences of the United States of America - 13 Jul 2010
Walsh Tom, Lee Ming K, Casadei Silvia, Thornton Anne M, Stray Sunday M, Pennil Christopher, Nord Alex S, Mandell Jessica B, Swisher Elizabeth M, King Mary-Claire
Abstract excerpt
Inherited loss-of-function mutations in the tumor suppressor genes BRCA1, BRCA2, and multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer-associated inherited mutations in these genes are collectively quite common, but individually rare or even private. Genetic testing for BRCA1 and BRCA2 mutations has become an integral part of clinical practice, but testing is generally limited...
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