A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer

Ghaffari, S.R.; Rafati, M.; Sabokbar, T.; Dastan, J.

doi:10.1016/j.ejso.2010.04.001

« Previous Next »European Journal of Surgical Oncology
Volume 36, Issue 6 , Pages 559-562, June 2010

A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer

S.R. Ghaffari
- Department of Reproductive Genetics, Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran
- Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
- Gene Clinic, Tehran, Iran
- Corresponding author at: Department of Reproductive Genetics, Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran. Tel.: +98 21 66935655; fax: +98 21 66933336.
M. Rafati
- Department of Reproductive Genetics, Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran
- Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
T. Sabokbar
- Cancer Research Center, Cancer Institute, Tehran, Iran
J. Dastan
- Gene Clinic, Tehran, Iran

Accepted 3 April 2010.

Abstract

Aims

Hereditary Diffuse Gastric Cancer (HDGC) is a dominantly inherited familial cancer syndrome resulting from germline mutations of the E-cadherin (CDH1) gene. The first Iranian family with HDGC is herein reported.

Methods

The family fulfilled the International Gastric Cancer Linkage Consortium (IGCLC) criteria for HDGC. The entire coding region of the CDH1 gene was analysed by direct sequencing in an obligatory carrier. Subsequent molecular genetic tests were done on other at risk individuals to identify mutation carriers.

Results

A novel heterozygous 2275G>T mutation in exon 14 of the CDH1 gene was detected. This nonsense mutation generates a premature stop codon at position 758 giving rise to a truncated E-cadherin protein lacking cytoplasmic region. The specified mutation was detected in the index case and her asymptomatic son who underwent prophylactic gastrectomy.