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Article

Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria

11 Jul 2019

Abstract excerpt

Background The clinical phenotype of CDH1 pathogenic variant carriers has mostly been studied in families that fulfil criteria of hereditary diffuse gastric cancer (HDGC). We aimed at determining cancer phenotype and cancer risk estimation among families with CDH1 pathogenic variants not selected by HDGC clinical criteria. Methods Patients were all consecutively identified CDH1 pathogenic variant carriers from a...

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PMID: 31296550
DOI: 10.1136/jmedgenet-2019-105991

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