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

JAMA Oct 10, 2018

Carlo MI, et al. - In this cohort study of 254 patients with advanced renal cell carcinoma (RCC) unselected for inherited cancer risk factors, researchers examined the prevalence of germline mutations in both known RCC predisposition genes and other cancer-associated genes, and investigated clinical and pathologic factors associated with germline mutations. Findings revealed germline mutation in > 20% among patients with non–clear cell RCC, of which half had the potential to direct systemic therapy. Researchers recommend considering genetic testing, especially for patients with advanced non–clear cell RCC.

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