Article
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.
Cancer research - 15 Aug 2017
Rivera Barbara, Di Iorio Massimo, Frankum Jessica, Nadaf Javad, Fahiminiya Somayyeh, Arcand Suzanna L, Burk David L, Grapton Damien, Tomiak Eva, Hastings Valerie, Hamel Nancy, Wagener Rabea, Aleynikova Olga, Giroux Sylvie, Hamdan Fadi F, Dionne-Laporte Alexandre, Zogopoulos George, Rousseau Francois, Berghuis Albert M, Provencher Diane, Rouleau Guy A, Michaud Jacques L, Mes-Masson Anne-Marie, Majewski Jacek, Bens Susanne, Siebert Reiner, Narod Steven A, Akbari Mohammad R, Lord Christopher J, Tonin Patricia N, Orthwein Alexandre, Foulkes William D
Abstract excerpt
RAD51D is a key player in DNA repair by homologous recombination (HR), and RAD51D truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating RAD51D variants to cancer predisposition remains uncertain. Using deep sequencing and case-control genotyping studies, we show that in French Canadians, the missense RAD51D variant c.620C>T;p.S207L is highly prevalent...
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