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

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 Cons...

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Bibliographic Details
Published in:European journal of surgical oncology 2010-06, Vol.36 (6), p.559-562
Main Authors: Ghaffari, S.R, Rafati, M, Sabokbar, T, Dastan, J
Format: Article
Language:English
Subjects:
Cadherins - genetics
CDH1
Codon
Diffuse gastric cancer
E-cadherin
Exons
Female
Gastrectomy
Germ-Line Mutation
Hematology, Oncology and Palliative Medicine
Hereditary
Heterozygote
Humans
Iran
Male
Pedigree
Polymerase Chain Reaction
Stomach Neoplasms - genetics
Stomach Neoplasms - surgery
Surgery
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Summary: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. Conclusion The first Iranian family with HDGC which carries a novel CDH1 germline mutation is reported.
ISSN:0748-7983
1532-2157
DOI:10.1016/j.ejso.2010.04.001