Novel germline mutations in the APC gene of Cypriot patients with familial and sporadic adenomatous polyposis

Clinical Genetics
Andreas HadjisavvasK C Kyriacou

Abstract

Familial adenomatous polyposis (FAP) is one of the two commonest familial syndromes that predispose to colorectal cancer. FAP is caused by mutations in the adenomatous polyposis coli (APC) tumour suppressor gene that has a high penetrance. The disease is characterized by the occurrence of hundreds to thousands of colorectal polyps, which if left untreated give rise to colorectal cancer. In Cyprus, there are no molecular data available as yet on families with FAP. This work presents the results of APC analysis in our population for the first time. The APC gene was analyzed in 33 DNA samples from 20 individuals belonging to four FAP families and 13 patients with sporadic polyposis. We identified three truncating mutations, four missense mutations and 11 polymorphisms. It is of interest that two of the three truncating mutations, 2307delA and Q1242X, are novel, which supports the existence of a unique genetic pool in the Cypriot population. This ethnic molecular study in addition to highlighting population heterogeneity also contributes to phenotype-genotype associations that are essential for the clinical management of FAP families in Cyprus.

References

May 1, 1992·Annals of Human Genetics·R S HoulstonN E Morton
Aug 9, 1991·Science·K W KinzlerD McKechnie
Dec 1, 1983·Archives of Disease in Childhood·J E KingstonJ R Mann
Nov 1, 1980·American Journal of Ophthalmology·N P Blair, C L Trempe
Mar 28, 1995·Proceedings of the National Academy of Sciences of the United States of America·S MunemitsuP Polakis
Jan 1, 1996·Nucleic Acids Research·C Béroud, T Soussi
Jul 1, 1997·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·F ParafE G Van Meir
Sep 2, 1998·Proceedings of the National Academy of Sciences of the United States of America·I M FraylingI P Tomlinson
Mar 13, 1999·International Journal of Cancer. Journal International Du Cancer·D M ParkinJ Ferlay
Nov 5, 1999·Cytogenetics and Cell Genetics·W Bodmer
Mar 21, 2001·Human Molecular Genetics·N S FearnheadW F Bodmer
Oct 3, 2003·European Journal of Human Genetics : EJHG·Stefan AretzWaltraut Friedl
Jun 3, 2004·Cancer Genetics and Cytogenetics·Andreas HadjisavvasKyriacos Kyriacou

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Citations

Mar 29, 2008·Pathology Oncology Research : POR·Eniko KámoryOrsolya Csuka

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