Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

The genetic cause of some familial nonsyndromic renal cell carcinomas (RCC) defined by at least two affected first-degree relatives is unknown. By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a germline BAP1 mutation c.277A>G (p.Thr93Ala) a...

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Detaylı Bibliyografya
Asıl Yazarlar: Popova, Tatiana, Hebert, Lucie, Jacquemin, Virginie, Gad, Sophie, Caux-Moncoutier, Virginie, Dubois-d’Enghien, Catherine, Richaudeau, Bénédicte, Renaudin, Xavier, Sellers, Jason, Nicolas, André, Sastre-Garau, Xavier, Desjardins, Laurence, Gyapay, Gabor, Raynal, Virginie, Sinilnikova, Olga M., Andrieu, Nadine, Manié, Elodie, de Pauw, Antoine, Gesta, Paul, Bonadona, Valérie, Maugard, Christine M., Penet, Clotilde, Avril, Marie-Françoise, Barillot, Emmanuel, Cabaret, Odile, Delattre, Olivier, Richard, Stéphane, Caron, Olivier, Benfodda, Meriem, Hu, Hui-Han, Soufir, Nadem, Bressac-de Paillerets, Brigitte, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2013
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675229/
https://ncbi.nlm.nih.gov/pubmed/23684012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.012
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