Human Disease Model Report: gastric cancer, hereditary diffuse, CDH1-related

General Information

Name

gastric cancer, hereditary diffuse, CDH1-related

FlyBase ID

FBhh0000608

Disease Ontology Term

gastric diffuse adenocarcinoma

Parent Disease

OMIM

DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME; DGLBC

Overview

This report describes the form of hereditary diffuse gastric cancer (HDGC) caused by mutational variants in the human CDH1 gene. HDGC is a predisposition to development of certain cancers; it exhibits autosomal dominant inheritance. The CDH1 gene encodes epithelial cadherin, which is involved in mechanisms regulating cell-cell adhesions, and mobility and proliferation of epithelial cells; it has been identified as a tumor suppressor protein. The syndrome implicating CDH1 in gastric cancer is also associated with an oral facial cleft phenotype. There are multiple cadherin genes in both human and fly (see FBgg0000105). CDH1 has been implicated in susceptibility to multiple types of cancer; this Drosophila model makes use of variants specifically associated with hereditary diffuse gastric cancer.

Multiple UAS constructs of the human Hsap\CDH1 gene have been introduced into flies, including wild-type and variants associated with HDGC. See the 'Disease-Implicated Variants' table below.

[updated Mar. 2024 by FlyBase; FBrf0222196]

Disease Summary Information

Disease Summary: gastric cancer, hereditary diffuse, CDH1-related

OMIM report

[DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME; DGLBC](https://omim.org/entry/137215)

Human gene(s) implicated

[CADHERIN 1; CDH1](https://omim.org/entry/192090)

Symptoms and phenotype

Heterozygous CDH1 mutation carriers have a 70 to 80% lifetime risk of developing diffuse gastric cancer. In addition to gastric cancer, up to 60% of female mutation carriers develop lobular carcinoma of the breast, and some carriers may develop colorectal cancer. [from MIM:137215; 2017.09.11]

(OMIM, 2013-)

Genetics

Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome caused by heterozygous germline mutation in the E-cadherin gene (CDH1). Heterozygous CDH1 mutation carriers have a 70 to 80% lifetime risk of developing diffuse gastric cancer. [from MIM:137215; 2017.09.11]

(OMIM, 2013-)

Cellular phenotype and pathology

Molecular information

CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells; it has been identified as a tumor suppressor protein. [Gene Cards, CDH1; 2017.09.11]

(FlyBase Curators, 2013-)

The CDH1 gene encodes epithelial cadherin (E-cadherin). The cadherin superfamily represents a diverse group of transmembrane receptors which mediate calcium-dependent cell-cell adhesion.

(FlyBase Curators, 2013-)

External links