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

Mol Genet Genomic Med. 2020 Nov;8(11):e1208. doi: 10.1002/mgg3.1208. Epub 2020 Sep 4.

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.

Keywords: CDH1 gene; Mexican family; breast carcinoma; gastric carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antigens, CD / genetics*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Cadherins / genetics*
  • Carcinoma / genetics*
  • Carcinoma / pathology
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Mexico
  • Middle Aged
  • Pedigree
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology

Substances

  • Antigens, CD
  • CDH1 protein, human
  • Cadherins