Molecular genetics & genomic medicine · 2020
First report of a Mexican family with mutation in the CDH1 gene.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Martínez Valenzuela Carmen, Castelán-Maldonado Edmundo Erbey, Carvajal-Zarrabal Octavio, Calderón-Garcidueñas Ana Laura
Аннотация
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.
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.