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

ABSTRACT:

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 sensitive Yale criteria. The European Reference Network on Genetic Tumour Risk Syndromes subsequently proposed expanding the IGCLC criteria and showed its LBC-expanded criteria to be more sensitive than the IGCLC criteria in a European cohort of CDH1 PV carriers.

Methods

We aggregated demographic and clinical data of all CDH1 PV carriers ident

SUBMITTER: Lerner BA 

PROVIDER: S-EPMC11916899 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature