Article
Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.
Genes - 25 Aug 2023
Lepage Mathis, Uhrhammer Nancy, Privat Maud, Ponelle-Chachuat Flora, Kossai Myriam, Scanzi Julien, Ouedraogo Zangbéwendé Guy, Gay-Bellile Mathilde, Bidet Yannick, Cavaillé Mathias
Abstract excerpt
Germline pathogenic variants in E-cadherin (CDH1) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of DGC in CDH1 carriers has been recently reassessed (from 40-83% by age 80 to 25-42%) and varies according to the presence and number of gastric cancers in the family. As there is no accurate estimate of the risk of gastric cancer in families without DGC,...
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