Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors

With more than 400,000 new cases diagnosed and 175,000 deaths each year worldwide, kidney cancer is the 14th most common cancer [1]. Renal Cell Carcinomas (RCC), whose major histological subtypes are clear-cell (ccRCC 75%), papillary (pRCC 15%) and chromophobe (chRCC 5%) carcinomas, account for 90-95% of all kidney tumors. Among other subtypes of tumors, angiomyolipomas (AML) are the most frequent mesenchymal tumors [2, 3]. Renal tumors can occur in a familial context, usually transmitted in an autosomal dominant mode.

Source: Cancer Genetics and Cytogenetics - August 9, 2021 Category: Genetics & Stem Cells Authors: Florine Adolphe, Sophie Ferlicot, Virginie Verkarre, Katia Posseme, Sophie Couv é, Pauline Garnier, Nathalie Droin, Marc Deloger, Bastien Job, Sophie Giraud, Brigitte Bressac-de Paillerets, Betty Gardie, Stéphane Richard, Flore Renaud, Sophie Gad Source Type: research