Hereditary gastric cancer.

• Type: Another Publication in an International Scientific Journal
• Date: 2012

Authors

Carneiro F (Author) FMUP

Journal

Title: Der Pathologe

Vol. 33 Suppl 2

Pages: 231-234

ISSN: 0172-8113

Publisher: Springer Nature

Indexing

Scopus - 3 Citations

Other information

Authenticus ID: P-009-GD0

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific