A new study published in JAMA Oncology has assessed the prevalence of cancer-related germline mutations in 254 patients with advanced renal cell carcinoma (RCC). Overall, 41 participants had germline mutations, 14 of whom had mutations in syndromic RCC-related genes; the most frequently mutated genes were CHEK2 and FH. Patients with non-clear-cell RCC were more likely to have an RCC-associated gene mutation and 10.0% of these patients had a mutation that could aid therapy decisions. Clinical guidelines for genetic testing would have missed 37.5% of patients with RCC-associated gene mutations.
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Carlo, M. I. et al. Prevalence of germline mutations in cancer susceptibility genes in patients with advanced renal cell carcinoma. JAMA Oncol. https://doi.org/10.1001/jamaoncol.2018.1986 (2018)
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Stone, L. Germline mutations in RCC. Nat Rev Urol 15, 656 (2018). https://doi.org/10.1038/s41585-018-0071-4
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DOI: https://doi.org/10.1038/s41585-018-0071-4