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

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.

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

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.

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.

Correa D, Huntsman D, Kaurah P, Lynch H, Redal M, Senz J, Vaccaro C, Van Domselaar F, Van Domselaar R


Acta Gastroenterol. Latinoam., 2007, 37 (3)

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