Germline CDH1 Variants and Lifetime Cancer Risk.

Carrie E RyanGrace-Ann FasayeAmber F GallanisLauren A GamblePaul H McClellandAnna DuemlerSarah G SamaranayakeAndrew M BlakelyChristine M DroganKerry KinghamDevanshi PatelLinda Rodgers-FoucheAva SiegelSonia S KupferJames M FordDaniel C ChungJames G DowtyJoshua SampsonJeremy L Davis

Published in: JAMA (2024)

Among families from North America with germline CDH1 P/LP variants, the cumulative risk of gastric cancer was 7% to 10%, which was lower than previously described, and the cumulative risk of breast cancer among female carriers was 37%, which was similar to prior estimates. These findings inform current management of individuals with germline CDH1 variants.

Keyphrases

copy number
dna repair
gene expression
genome wide
oxidative stress
young adults