Cáncer gástrico difuso hereditario (CGDH): Presentación de una familia con una nueva mutación del gen CDH1

Translated title of the contribution: Hereditary diffuse gastric cancer (HDGC): Presentation of a family with a new mutation of the CDH1 GENE

Fernando Van Domselaar, Daniel Correa, Carlos Vaccaro, María Redal, Reinaldo Van Domselaar, David Huntsman, Pardeep Kaurah, Janine Senz, Henry T. Lynch

Research output: Contribution to journalArticle

5 Scopus citations


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.

Original languageSpanish
Pages (from-to)158-163
Number of pages6
JournalActa Gastroenterologica Latinoamericana
Issue number3
StatePublished - Aug 2007


All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Van Domselaar, F., Correa, D., Vaccaro, C., Redal, M., Van Domselaar, R., Huntsman, D., Kaurah, P., Senz, J., & Lynch, H. T. (2007). Cáncer gástrico difuso hereditario (CGDH): Presentación de una familia con una nueva mutación del gen CDH1. Acta Gastroenterologica Latinoamericana, 37(3), 158-163.