E-Cadherin Alterations in Hereditary Disorders with Emphasis in Hereditary Diffuse Gastric Cancer

• Tipo: Outra Publicação em Revista Científica Internacional
• Data: 2013

Autores

Oliveira C (Autor) FMUP; Pinheiro, H (Autor) Outra; Figueiredo, J (Autor) Outra; Seruca, R (Autor) FMUP; Carneiro F (Autor) FMUP

Revista

Título: Progress in Molecular Biology and Translational Science

Vol. 14

Páginas: 337-359

ISSN: 1877-1173

Editora: Elsevier

Indexação

ISI Web of Knowledge - 34 Citações

Scopus - 41 Citações

Outras Informações

ID Authenticus: P-005-3AV

DOI: 10.1016/b978-0-12-394311-8.00015-7

Abstract (EN): The only gastric cancer (GC) syndrome with a proven inherited defect is designated as hereditary diffuse gastric cancer (HDGC) and is caused by germline E-cadherin/CDH1 alterations. Other E-cadherin-associated hereditary disorders have been identified, encompassing HDGC families with or without cleft-lip/palate involvement, isolated early-onset diffuse GCs, and lobular breast cancer families without GC. To date, 141 probands harboring more than 100 different germline CDH1 alterations, mainly point mutations and large deletions, have been described in these different settings. A third of all HDGC families described so far carry recurrent CDH1 alterations. Full screening of CDH1 is recommended in patients fulfilling the HDGC criteria and total prophylactic gastrectomy is the only reliable intervention for carriers of pathogenic alterations. In this chapter, we discuss CDH1-associated syndromes, frequency and type of CDH1 germ line alterations, clinical criteria, and guidelines for genetic counseling, molecular pathology, and available animal/cell line models of the disease.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 23