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Article

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Genes - 3 Apr 2020

Selvanathan Arthavan, Nixon Cheng Yee, Zhu Ying, Scietti Luigi, Forneris Federico, Uribe Lina M Moreno, Lidral Andrew C, Jezewski Peter A, Mulliken John B, Murray Jeffrey C, Buckley Michael F, Cox Timothy C, Roscioli Tony

Abstract excerpt

Pathogenic variants in CDH1, encoding epithelial cadherin (E-cadherin), have been implicated in hereditary diffuse gastric cancer (HDGC), lobular breast cancer, and both syndromic and non-syndromic cleft lip/palate (CL/P). Despite the large number of CDH1 mutations described, the nature of the phenotypic consequence of such mutations is currently not able to be predicted, creating significant challenges for...

Topics

Antigens, CD
Brain
Cadherins
Cleft Lip
Cleft Palate
Female
Genetic Counseling
Genetic Predisposition to Disease
Germ-Line Mutation
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Phenotype

Stomach Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 32260281
DOI: 10.3390/genes11040391
PMCID: PMC7231129

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-32260281-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.PMID 32260281Read ↗

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