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Eur J Surg Oncol. 2006 Dec;32(10):1110-3. Epub 2006 Jul 25.

A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Spain.

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  • 1Departamento de CirugĂ­a General y Digestiva II, Hospital Universitario Marques de Valdecilla, 39008 Santander, Spain.

Abstract

AIMS:

Mutations of the E-cadherin gene (CDH1) result in dominantly inherited hereditary diffuse gastric cancer (HDGC). We report a study in the first family diagnosed with HDGC in Spain, examining the presence of mutations in the CDH1 gene.

METHODS:

The presence of mutations was studied by direct sequencing of all CDH1 exons. Immunohistochemical analysis with specific antibodies was used to detect the expression of E-cadherin in normal and tumour tissue.

RESULTS:

A novel 1610delC mutation in exon 11 has been found in a Spanish family diagnosed with HDGC. This mutation generates a premature stop codon at position 1667 giving rise to a truncated protein that lacks the transmembrane and beta-catenin-binding domains. The presence of a 1610delC germline mutation was confirmed in three family members diagnosed with diffuse gastric cancer, and also in six asymptomatic members. Of note, the diffuse gastric cancer coexisted with a gastric lymphoma in the proband. Furthermore, immunohistochemical analyses of tumour tissue showed the complete absence of E-cadherin in the proband, revealing a second genetic hit at the CDH1 locus.

CONCLUSIONS:

We have identified a HDGC family in Spain that carries a novel germline truncating mutation in the CDH1 gene.

PMID:
16870389
DOI:
10.1016/j.ejso.2006.06.006
[PubMed - indexed for MEDLINE]
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