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