Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.

María SantosJavier LanillosJuan María Roldan-RomeroEduardo CaleirasCristina Montero-CondeAlberto CascónMiguel Angel ClimentGeorgia AngueraSusana HernandoNuria LaínezMercedes RobledoLuis RoblesGuillermo de VelascoJesús García-DonasCristina Rodríguez-Antona

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Our findings confirm a high prevalence of pathogenic germline variants in RCC predisposition genes in metastatic non-ccRCC, and highlight that metastatic patients with papillary type 2 or unconventional histologies compatible with FH would benefit from genetic screening.

Keyphrases

copy number
metastatic renal cell carcinoma
genome wide
squamous cell carcinoma
small cell lung cancer
dna repair
risk factors
dna methylation
renal cell carcinoma
oxidative stress
transcription factor
clear cell