Hereditary gastric cancer

• Tipo: Artigo em Revista Científica Internacional
• Data: 2012

Autores

Carneiro F (Autor) FMUP

Revista

Título: Der Pathologe

Vol. 33

Páginas: 231-234

ISSN: 0172-8113

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 30 Citações

Scopus - 1 Citação

Outras Informações

ID Authenticus: P-002-3V8

DOI: 10.1007/s00292-012-1677-6

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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4