Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

Using large-scale exome sequencing, Andrew Futreal and colleagues have identified a second frequently mutated gene (after VHL) in clear cell renal cell carcinomas, the most frequent type of kidney cancer. PBRM1, a member of the SWI/SNF complex involved in transcriptional regulation, is mutated in about 40% of cases and is shown to function as a tumour suppressor gene. PBRM1 was independently found as a putative cancer gene involved in pancreatic cancer in a mouse transposon screen. These results — together with the fact that other components of the same complex are known cancer genes — unambiguously identify PBRM1 as a major cancer gene. Using large-scale exome sequencing, this study identifies a second (after…