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


METHODS
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.


CONCLUSIONS
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.
Van Domselaar
Fernando
F
Servicio de Gastroenterología del Hospital Italiano, Cudad Autónoma, Bs As, Argentina. fernandovd04@yahoo.com.ar
Correa
Daniel
D
Vaccaro
Carlos
C
Redal
María
M
Van Domselaar
Reinaldo
R
Huntsman
David
D
Kaurah
Pardeep
P
Senz
Janine
J
Lynch
Henry
H
D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000328:Adult; D015703:Antigens, CD; D014408:Biomarkers, Tumor / Q000235:genetics; D015820:Cadherins / Q000235:genetics*; D005260:Female; D005743:Gastrectomy; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery
D015703:Antigens, CD; D014408:Biomarkers, Tumor; C513384:CDH1 protein, human; D015820:Cadherins