Unidad de Investigación en ambiente y salud, Universidad Autónoma de Occidente, Los Mochis, Sinaloa, México.
Hospital de Especialidades UMAE 25, Instituto Mexicano del Seguro Social, Monterrey, NL, México.
Mol Genet Genomic Med. 2020 Nov;8(11):e1208. doi: 10.1002/mgg3.1208. Epub 2020 Sep 4.
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.
We report the first Mexican family with CDH1 mutation (variant c.377del).
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.
Medical communities should be aware of the contribution of this gene in the development of hereditary diffuse gastric carcinoma (HDGC) and breast cancer.
E-钙黏蛋白（CDH1）基因突变与常染色体显性遗传癌症综合征相关，其特征为弥漫性胃癌、乳腺小叶癌，在一些家族中还伴有唇/腭裂。然而，在某些家族中，可能会出现好几代都没有发生这些肿瘤的情况，之后才会出现一种或另一种癌，这使得医生很难考虑遗传起源。
我们报告了首例携带 CDH1 突变（c.377del 变异）的墨西哥家族。
一位无症状的年轻女性因母亲和姨母患有乳腺癌而进行乳腺癌易感基因的突变筛查，发现了 CDH1 突变。随后进行了内镜检查，发现弥漫性胃癌。之后对这个家族的三代人进行了研究，现将结果呈现如下。
医学界应意识到该基因在遗传性弥漫性胃癌（HDGC）和乳腺癌的发生中的作用。
