Article
Germline BAP1 mutations predispose to malignant mesothelioma.
Nature genetics - 28 Aug 2011
Testa Joseph R, Cheung Mitchell, Pei Jianming, Below Jennifer E, Tan Yinfei, Sementino Eleonora, Cox Nancy J, Dogan A Umran, Pass Harvey I, Trusa Sandra, Hesdorffer Mary, Nasu Masaki, Powers Amy, Rivera Zeyana, Comertpay Sabahattin, Tanji Mika, Gaudino Giovanni, Yang Haining, Carbone Michele
Abstract excerpt
Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a high incidence of mesothelioma, and we observed somatic alterations affecting BAP1 in familial...
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