The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.

doi:10.3390/genes13122213

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Article

The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.

Genes - 25 Nov 2022

Ben Aissa-Haj Jihenne, Pinheiro Hugo, Cornelis François, Sebai Molka, Meseure Didier, Briaux Adrien, Berteaux Philippe, Lefol Cedric, Des Guetz Gaëtan, Trassard Martine, Stevens Denise, Vialard François, Bieche Ivan, Noguès Catherine, Tang Roseline, Oliveira Carla, Stoppat-Lyonnet Dominique, Lidereau Rosette, Rouleau Etienne

Abstract excerpt

E-cadherin, a CDH1 gene product, is a calcium-dependent cell-cell adhesion molecule playing a critical role in the establishment of epithelial architecture, maintenance of cell polarity, and differentiation. Germline pathogenic variants in the CDH1 gene are associated with hereditary diffuse gast...

Topics

Humans
Female
Breast Neoplasms
Introns
DNA Copy Number Variations
Genetic Predisposition to Disease
Pedigree
BRCA1 Protein
Antigens, CD
Cadherins

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Identifiers

PMID: 36553480
DOI: 10.3390/genes13122213
PMCID: PMC9778491

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-36553480-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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