Many cases of familial renal cell carcinoma (RCC) are unexplained by mutations in known predisposing genes or shared environmental factors. We have shown that PBRM1, a tumor supressor gene with frequent somatic mutations in clear cell RCC, is also a RCC susceptibility gene. Indeed, four members from the same family, all with a history of RCC, carried the same germline pathogenic mutation in PBRM1, whereas an unaffected relative did not. Complementary analyses supported our findings as there was loss of the wild-type allele and absence of expression of the normal protein in tumoral tissue extracted from the patients RCCs. (By Patrick R Benusiglio, http://jmg.bmj.com/content/early/2015/04/23/jmedgenet-2014-102912 )
A germline mutation in PBRM1 predisposes to renal cell carcinoma
(Visited 93 times, 1 visits today)