Article
Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
Cancer discovery - 1 Jul 2014
Park Daniel J, Tao Kayoko, Le Calvez-Kelm Florence, Nguyen-Dumont Tu, Robinot Nivonirina, Hammet Fleur, Odefrey Fabrice, Tsimiklis Helen, Teo Zhi L, Thingholm Louise B, Young Erin L, Voegele Catherine, Lonie Andrew, Pope Bernard J, Roane Terrell C, Bell Russell, Hu Hao, Shankaracharya, Huff Chad D, Ellis Jonathan, Li Jun, Makunin Igor V, John Esther M, Andrulis Irene L, Terry Mary B, Daly Mary, Buys Saundra S, Snyder Carrie, Lynch Henry T, Devilee Peter, Giles Graham G, Hopper John L, Feng Bing-Jian, Lesueur Fabienne, Tavtigian Sean V, Southey Melissa C, Goldgar David E
Abstract excerpt
UNLABELLED: Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome-sequencing study identified three likely pathogenic mutations in RINT1 (NM_021930.4) not present in public sequencing databases: RINT1 c.343C>T (p.Q115X), c.1132_1134del (p.M378del), and c.1207G>T (p.D403Y). On the basis of this finding, a population-based case-control...
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