Hereditary gastric cancer.
In 1998, Guilford et al. identified the hereditary diffuse gastric cancer (HDGC) syndrome, caused by germline alterations at the CDH1 (E-cadherin) gene. To date, 141 probands harboring more than 100 different germline CDH1 alterations, mainly point mutations and large deletions, have been described. In mutation-positive individuals prophylactic total gastrectomy is recommended. The systematic histological study of prophylactic gastrectomies shows intramucosal signet-ring cell carcinoma and pre-invasive lesions including in situ signet ring carcinoma with pagetoid spread of signet ring cells. In 2011, a new hereditary gastric cancer syndrome was identified: gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). GAPPS is a unique gastric polyposis syndrome with a significant risk of gastric adenocarcinoma, characterized by the autosomal dominant transmission of fundic gland polyposis, with areas of dysplasia or intestinal-type GC, restricted to the proximal stomach, with no evidence of colorectal or duodenal polyposis or other heritable gastrointestinal cancer syndromes.
Institute of Molecular Pathology and Immunology, University of Porto, Rua Dr Roberto Frias S/N, 4200-465 Porto, Portugal. fcarneiro@ipatimup.pt
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D000230:Adenocarcinoma / Q000235:genetics / Q000473:pathology* / Q000517:prevention & control; D000293:Adolescent; D000328:Adult; D015703:Antigens, CD; D015820:Cadherins / Q000235:genetics; D002278:Carcinoma in Situ / Q000235:genetics / Q000473:pathology* / Q000517:prevention & control; D018279:Carcinoma, Signet Ring Cell / Q000235:genetics* / Q000473:pathology* / Q000517:prevention & control; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D005743:Gastrectomy; D005753:Gastric Mucosa / Q000473:pathology; D005799:Genes, Dominant / Q000235:genetics; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D020125:Mutation, Missense; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000517:prevention & control; D017354:Point Mutation; D011127:Polyps / Q000235:genetics / Q000473:pathology; D011230:Precancerous Conditions / Q000235:genetics* / Q000473:pathology* / Q000517:prevention & control; D013270:Stomach / Q000473:pathology; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins