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Article

Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers.

Journal of medical genetics - 27 Jan 2025

Lerner Benjamin A, Giner-Calabuig Mar, Carraway Cassidy, Richardson Marcy, Krahn Karl, Susswein Lisa, Nielsen Sarah M, Karam Rachid, Xicola Rosa M, Llor Xavier

Abstract excerpt

BACKGROUND: Diffuse gastric and lobular breast cancer (LBC) syndrome is an autosomal-dominant syndrome characterised by early-onset diffuse gastric cancer and LBC most often caused by germline pathogenic variants (PVs) in CDH1. We previously showed the International Gastric Cancer Linkage Consortium (IGCLC) criteria for genetic testing to have poor sensitivity for CDH1 PV and proposed our own simpler and more...

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Identifiers

PMID: 39674581
DOI: 10.1136/jmg-2024-110446
PMCID: PMC11916899

Genes

CDH1

Provenance

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