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Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers

27 Jun 2019

Abstract excerpt

IMPORTANCE: CDH1 pathogenic variants have been estimated to confer a 40% to 70% and 56% to 83% lifetime risk for gastric cancer in men and women, respectively. These are likely to be overestimates owing to ascertainment of families with multiple cases of gastric cancer. To our knowledge, there are no penetrance estimates for CDH1 without this ascertainment bias. OBJECTIVE: To estimate CDH1 penetrance in a patient...

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PMID: 31246251
DOI: 10.1001/jamaoncol.2019.1208

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