[Hereditary diffuse gastric cancer (HDGC): presentation of a family with a new mutation of the CDH1 gene]

Acta Gastroenterol Latinoam. 2007 Sep;37(3):158-63.
[Article in Spanish]


Introduction: HDGC is a hereditary cancer syndrome with an autosomic dominant pattern. It may be clinically diagnosed by family background, and confirmed by genetic testing. In 40% of the families, a mutation in the CDH1 gene (E-cadherin) can be identified. Furthermore, the identification of the pathogenic mutation enables the segregate non-carriers (having population risk) and carriers. Prevention for the latter group includes prophylactic gastrectomy or surveillance endoscopy every 6 to 12 months.

Objective: to present the case of an HDGC family with identified CDH1 mutation.

Case: 28 year-old woman who underwent gastrectomy for a diffuse type gastric cancer. Her family background showed multiple gastric cancers with inherited autosomal-dominant pattern (affectation of 9 members in 5 generations). Suspecting HDGC, a plan of surveillance endoscopy was iniciated, and a her DNA sample was sequenced for CDH1 gene finding a non-sense mutation in position 1913 G>A (W638X) of exon 12.

Conclusion: the detailed recollection of the family background allowed to identify a rare inherited entity. The molecular testing confirmed the diagnosis and will allow future tailored counselling among relatives.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / pathology
  • Adenocarcinoma / surgery
  • Adult
  • Antigens, CD
  • Biomarkers, Tumor / genetics
  • Cadherins / genetics*
  • Female
  • Gastrectomy
  • Genetic Predisposition to Disease
  • Humans
  • Mutation*
  • Pedigree
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology
  • Stomach Neoplasms / surgery


  • Antigens, CD
  • Biomarkers, Tumor
  • CDH1 protein, human
  • Cadherins