Risk of pancreatic cancer for ATM variant carriers
JAMA Nov 24, 2021
Hsu FC, Roberts NJ, Childs E, et al. - In this study, the lifetime risk of pancreatic cancer was found to be elevated in persons carrying a germline pathogenic ATM variant. Such persons may benefit from enhanced early detection surveillance.
This is a multicenter cohort study of 2,227 family members (mean age [SD], 58 [22] years; 1,096 [49%] women) of 130 pancreatic cancer kindreds, to estimate age-specific penetrance of pancreatic cancer in people with a pathogenic variant in the ATM gene.
In participants with a pathogenic variant in the ATM gene, the risk of pancreatic cancer was estimated to be 1.1% by age 50 years, 6.3% by age 70 years, and 9.5% by age 80 years.
Among ATM variant carriers, the relative risk of pancreatic cancer was estimated to be 6.5 (95% CI, 4.5-9.5) vs noncarriers.
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