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First report of a Mexican family with mutation in the CDH1 gene.

ABSTRACT: BACKGROUND:Germline mutations in E-cadherin (CDH1) gene are associated with autosomal-dominantly inherited cancer syndrome characterized by diffuse gastric cancer, lobular breast cancer, and in some families, cleft lip/palate. However, there may be generations in which these neoplasms do not occur at all in a family and later on, one or another carcinoma arises, which makes it difficult for physicians to think about hereditary origin. METHODS:We report the first Mexican family with CDH1 mutation (variant c.377del). RESULTS:An asymptomatic young woman underwent a search for mutations in susceptibility genes for breast cancer due to the history of this neoplasm in her mother and maternal aunt. A CDH1 mutation was detected. After an endoscopy, a diffuse gastric carcinoma was found. Later on, three generations of this family were studied. The findings are presented. CONCLUSION:Medical communities should be aware of the contribution of this gene in the development of hereditary diffuse gastric carcinoma (HDGC) and breast cancer.

SUBMITTER: Martinez Valenzuela C 

PROVIDER: S-EPMC7667379 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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First report of a Mexican family with mutation in the CDH1 gene.

Martínez Valenzuela Carmen C   Castelán-Maldonado Edmundo Erbey EE   Carvajal-Zarrabal Octavio O   Calderón-Garcidueñas Ana Laura AL  

Molecular genetics & genomic medicine 20200904 11

<h4>Background</h4>Germline mutations in E-cadherin (CDH1) gene are associated with autosomal-dominantly inherited cancer syndrome characterized by diffuse gastric cancer, lobular breast cancer, and in some families, cleft lip/palate. However, there may be generations in which these neoplasms do not occur at all in a family and later on, one or another carcinoma arises, which makes it difficult for physicians to think about hereditary origin.<h4>Methods</h4>We report the first Mexican family wit  ...[more]

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