A germline mutation in PBRM1 predisposes to renal cell carcinoma.

doi:10.1136/jmedgenet-2014-102912

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Article

A germline mutation in PBRM1 predisposes to renal cell carcinoma.

Journal of medical genetics - 1 Jun 2015

Benusiglio Patrick R, Couvé Sophie, Gilbert-Dussardier Brigitte, Deveaux Sophie, Le Jeune Hélène, Da Costa Mélanie, Fromont Gaëlle, Memeteau Françoise, Yacoub Mokrane, Coupier Isabelle, Leroux Dominique, Méjean Arnaud, Escudier Bernard, Giraud Sophie, Gimenez-Roqueplo Anne-Paule, Blondel Christophe, Frouin Eric, Teh Bin T, Ferlicot Sophie, Bressac-de Paillerets Brigitte, Richard Stéphane, Gad Sophie

Abstract excerpt

BACKGROUND: Many cases of familial renal cell carcinoma (RCC) remain unexplained by mutations in the known predisposing genes or shared environmental factors. There are therefore additional, still unidentified genes involved in familial RCC. PBRM1 is a tumour suppressor gene and somatic mutations are found in 30-45% of sporadic clear cell (cc) RCC. METHODS: We selected 35 unrelated patients with unexplained...

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PMID: 25911086
DOI: 10.1136/jmedgenet-2014-102912

Genes

PBRM1

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