Article
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
Proceedings of the National Academy of Sciences of the United States of America - 1 Nov 2011
Walsh Tom, Casadei Silvia, Lee Ming K, Pennil Christopher C, Nord Alex S, Thornton Anne M, Roeb Wendy, Agnew Kathy J, Stray Sunday M, Wickramanayake Anneka, Norquist Barbara, Pennington Kathryn P, Garcia Rochelle L, King Mary-Claire, Swisher Elizabeth M
Abstract excerpt
Inherited loss-of-function mutations in BRCA1 and BRCA2 and other tumor suppressor genes predispose to ovarian carcinomas, but the overall burden of disease due to inherited mutations is not known. Using targeted capture and massively parallel genomic sequencing, we screened for germ-line mutations in 21 tumor suppressor genes in genomic DNA from women with primary ovarian, peritoneal, or fallopian tube...
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