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Article

Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) Variant.

European journal of human genetics : EJHG - 1 Jul 2021

Yelskaya Zarina, Arnold Angela G, Marcell Vanessa J, Tang Laura H, Salo-Mullen Erin E, Strong Vivian E, Stadler Zsofia K, Zhang Liying

Abstract excerpt

Hereditary Diffuse Gastric Cancer (HDGC) syndrome is associated with CDH1 germline likely pathogenic/pathogenic variants. Carriers of CDH1 germline likely pathogenic/pathogenic variants are predisposed to diffuse gastric cancer and lobular breast cancer. This study aims to classify the CDH1 c.[715G>A] missense variant identified in a diffuse gastric cancer prone family by performing splicing studies. RT-PCR and...

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Identifiers

PMID: 33619332
DOI: 10.1038/s41431-021-00825-w
PMCID: PMC8298625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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