Article
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
Journal of the National Cancer Institute - 1 Mar 2016
Pharoah Paul D P, Song Honglin, Dicks Ed, Intermaggio Maria P, Harrington Patricia, Baynes Caroline, Alsop Kathryn, Bogdanova Natalia, Cicek Mine S, Cunningham Julie M, Fridley Brooke L, Gentry-Maharaj Aleksandra, Hillemanns Peter, Lele Shashi, Lester Jenny, McGuire Valerie, Moysich Kirsten B, Poblete Samantha, Sieh Weiva, Sucheston-Campbell Lara, Widschwendter Martin, Whittemore Alice S, Dörk Thilo, Menon Usha, Odunsi Kunle, Goode Ellen L, Karlan Beth Y, Bowtell David D, Gayther Simon A, Ramus Susan J
Abstract excerpt
Mosaic truncating mutations in the protein phosphatase, Mg(2+)/Mn(2+)-dependent, 1D (PPM1D) gene have recently been reported with a statistically significantly greater frequency in lymphocyte DNA from ovarian cancer case patients compared with unaffected control patients. Using massively parallel sequencing (MPS) we identified truncating PPM1D mutations in 12 of 3236 epithelial ovarian cancer (EOC) case patients...
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