Article
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Human mutation - 1 Mar 2022
Sebai Molka, Tulasne David, Caputo Sandrine M, Verkarre Virginie, Fernandes Marie, Guérin Célia, Reinhart Fanny, Adams Séverine, Maugard Christine, Caron Olivier, Guillaud-Bataille Marine, Berthet Pascaline, Bignon Yves-Jean, Bressac-de Paillerets Brigitte, Burnichon Nelly, Chiesa Jean, Giraud Sophie, Lejeune Sophie, Limacher Jean-Marc, de Pauw Antoine, Stoppa-Lyonnet Dominique, Zattara-Cannoni Hélène, Deveaux Sophie, Lidereau Rosette, Richard Stéphane, Rouleau Etienne
Abstract excerpt
Hereditary papillary renal cell carcinoma (HPRC) is a rare inherited renal cancer syndrome characterized by bilateral and multifocal papillary type 1 renal tumors (PRCC1). Activating germline pathogenic variants of the MET gene were identified in HPRC families. We reviewed the medical and molecular records of a large French series of 158 patients screened for MET oncogenic variants. MET pathogenic and likely...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.