Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.

To our knowledge, this is the first report of pathogenic germline mutations in the and genes and heterozygous germline missense mutation in exon 5 of the gene c.563A>T:p.N188I in RCC. Young RCC patients, patients with bilateral or multifocal RCC, or patients with nccRCC are more likely to have pathogenic/potentially pathogenic germline mutations.