A recent study published in JAMA Oncology last week examined the prevalence of hereditary mutations in renal cell carcinoma (RCC) associated genes to identify the clinical and pathological factors associated with these mutations.
Identification of patients with hereditary RCC is important for cancer screening and, in patients with advanced disease, for treatment and management of the disease. In this study, 254 patients with advanced RCC agreed to undergo sequencing of their tumour DNA.
Patients with advanced RCC have a higher frequency of mutations in hereditary cancer-associated genes than first thought. Of patients with non–clear cell RCC, more than 20% had a hereditary mutation. Half of these mutations had the potential to guide treatment. Genetic testing should be considered, especially for patients with advanced non–clear cell RCC.