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Article

Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants.

Journal of medical genetics - 1 Jan 2023

Lerner Benjamin A, Xicola Rosa M, Rodriguez Nicolette J, Karam Rachid, Llor Xavier

Abstract excerpt

BACKGROUND: Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominant syndrome most often caused by pathogenic variants in CDH1. The International Gastric Cancer Linkage Consortium (IGCLC) recently updated its criteria for genetic testing. The purpose of this study was to estimate the sensitivity of IGCLC's 2020 criteria for identifying carriers of CDH1 pathogenic variants and to formulate a new set of...

Topics

Humans
Stomach Neoplasms
Pedigree
Genetic Testing
Cadherins
Adenocarcinoma
Germ-Line Mutation
Genetic Predisposition to Disease
Antigens, CD

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Open in PubMed Open full text

Identifiers

PMID: 35078942
DOI: 10.1136/jmedgenet-2021-108169
PMCID: PMC9661780

Genes

CDH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-35078942-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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