A Japanese family of hereditary diffuse gastric cancer with a germline pathogenic variant of CTNN1A detected via comprehensive genome profiling.

doi:10.1007/s10120-025-01583-0

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Article

A Japanese family of hereditary diffuse gastric cancer with a germline pathogenic variant of CTNN1A detected via comprehensive genome profiling.

Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association - 1 May 2025

Kawakami Takeshi, Matsubayashi Hiroyuki, Kiyozumi Yoshimi, Harada Rina, Ishihara Eiko, Yoshida Masao, Ono Hiroyuki, Bando Etsuro, Serizawa Masakuni, Sugino Takashi

Abstract excerpt

CTNNA1 codes α-1 catenin, a molecule that functions in intercellular adhesion in combination with E-cadherin (coded by CDH1). A germline pathogenic variant (GPV) of CTNNA1 increases the risk of hereditary diffuse gastric cancer (HDGC); however, this GPV has not been reported in Japan. A 35-year-o...

Topics

Humans
Stomach Neoplasms
Male
Adult
Germ-Line Mutation
alpha Catenin
Japan
Pedigree
Genetic Predisposition to Disease
Female
East Asian People

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Identifiers

PMID: 39838246
DOI: 10.1007/s10120-025-01583-0

Genes

CTNNA1
CDH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-39838246-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.