Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.

Dana Farengo ClarkScott T MichalskiRashmi TondonBita NehorayJessica EbrahimzadehSarah Kate HughesEmily R SoperSusan M DomchekAnil K RustgiDaniel Pineda-AlvarezMichael J AndersonBryson W Katona

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

CTNNA1 LOF variants are detected on MGPT with a majority of these individuals having gastric or breast cancer. The overall risk of gastric cancer for CTNNA1 LOF carriers may be lower than expected. Given the uncertain phenotype and penetrance, management of individuals with CTNNA1 LOF variants remains challenging.

Keyphrases

copy number
dna methylation
genome wide