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 gastric cancer (HDGC), and large rearrangements in the CDH1 gene are now being reported as well. Because CDH1 pathogenic...
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