Hereditary gastric cancer

Pathologe. 2012 Nov:33 Suppl 2:231-4. doi: 10.1007/s00292-012-1677-6.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology*
  • Adenocarcinoma / prevention & control
  • Adolescent
  • Adult
  • Antigens, CD
  • Cadherins / genetics
  • Carcinoma in Situ / genetics
  • Carcinoma in Situ / pathology*
  • Carcinoma in Situ / prevention & control
  • Carcinoma, Signet Ring Cell / genetics*
  • Carcinoma, Signet Ring Cell / pathology*
  • Carcinoma, Signet Ring Cell / prevention & control
  • Chromosome Aberrations
  • Chromosome Deletion
  • Gastrectomy
  • Gastric Mucosa / pathology
  • Genes, Dominant / genetics
  • Genetic Carrier Screening
  • Genetic Counseling
  • Genetic Testing
  • Germ-Line Mutation
  • Humans
  • Mutation, Missense
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / pathology*
  • Neoplastic Syndromes, Hereditary / prevention & control
  • Point Mutation
  • Polyps / genetics
  • Polyps / pathology
  • Precancerous Conditions / genetics*
  • Precancerous Conditions / pathology*
  • Precancerous Conditions / prevention & control
  • Stomach / pathology
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology*
  • Young Adult

Substances

  • Antigens, CD
  • CDH1 protein, human
  • Cadherins

Supplementary concepts

  • Polyposis Of Gastric Fundus Without Polyposis Coli