Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.

doi:10.3390/genes14091677

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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 ga...

Topics

Humans
Cadherins
Female
Carcinoma, Signet Ring Cell
Antigens, CD
Male
Middle Aged
Stomach Neoplasms
Incidental Findings
Adult
Aged
Pedigree
Genetic Predisposition to Disease
Breast Neoplasms

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Heterozygote

Germ-Line Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37761816
DOI: 10.3390/genes14091677
PMCID: PMC10530895

Genes

CDH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-37761816-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.