Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family.
Eur J Surg Oncol
; 33(4): 448-51, 2007 May.
Article
en En
| MEDLINE
| ID: mdl-17126523
ABSTRACT
AIMS:
Germline mutation of the E-cadherin gene (CDH1) accounts for the Hereditary Diffuse Gastric Cancer (HDGC) syndrome. Fourteen pedigrees with Diffuse Gastric Cancer that fulfilled the International Gastric Cancer Linkage Consortium (IGCLC) criteria were selected and screened for CDH1 germline mutations.METHODS:
The entire coding region of the CDH1 gene and all intron-exon boundaries were analyzed by direct sequencing in the 14 families fulfilling the IGCLC criteria. E-cadherin immunohistochemical expression was evaluated on tumour as well as normal formalin-fixed paraffin embedded tissues.RESULTS:
A novel germline missense mutation was found. It was a single C-->T substitution in exon 8, resulting in a transition of CCG-->CTG (C1118T; Pro373Leu) demonstrated in the proband and her brother. At immunohistochemical analysis, the staining intensity was reduced and considered weakly positive (15%).CONCLUSIONS:
The first CDH1 germline mutation of an Italian family is herein reported. The present missense mutation has never been described so far.
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Bases de datos:
MEDLINE
Asunto principal:
Neoplasias Gástricas
/
Cadherinas
/
Mutación de Línea Germinal
Tipo de estudio:
Observational_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Eur J Surg Oncol
Asunto de la revista:
NEOPLASIAS
Año:
2007
Tipo del documento:
Article
País de afiliación:
Italia