Article
Trans-ethnic variation in germline variants of patients with renal cell carcinoma.
Cell reports - 30 Mar 2021
Abou Alaiwi Sarah, Nassar Amin H, Adib Elio, Groha Stefan M, Akl Elie W, McGregor Bradley A, Esplin Edward D, Yang Shan, Hatchell Kathryn, Fusaro Vincent, Nielsen Sarah, Kwiatkowski David J, Sonpavde Guru P, Pomerantz Mark, Garber Judy E, Freedman Matthew L, Rana Huma Q, Gusev Alexander, Choueiri Toni K
Abstract excerpt
Prior studies of the renal cell carcinoma (RCC) germline landscape investigated predominantly patients of European ancestry. We examine the frequency of germline pathogenic and likely pathogenic (P/LP) variants in 1,829 patients with RCC from various ancestries. Overall, P/LP variants are found in 17% of patients, among whom 10.3% harbor one or more clinically actionable variants with potential preventive or...
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