ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications.
Tony El JabbourMaksym MisyuraDarren CowzerMichal ZimmermannVictoria RimkunasAntonio MarraFatemeh DerakhshanPier SelenicaMegan ParillaJeremy S SettonOzge Ceyhan-BirsoyYelena M KemelAmanda CatchingsMegha RanganathanGeoffrey Y KuYelena Y JanjigianMichael ZindaMaria KoehlerZsofia StadlerJinru ShiaJorge Sergio Reis-FilhoDiana L MandelkerPublished in: Journal of the National Cancer Institute (2022)
Our results indicate that germline pathogenic variants in ATM drive oncogenesis in GEJ adenocarcinoma and might result in a distinct clinical phenotype. Given the high prevalence of germline ATM-mutated GEJ adenocarcinomas, genetic testing for individuals with GEJ adenocarcinomas may be considered to better inform prognostication, treatment decisions, and future cancer risk.