%0 Journal Article
%T Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients
%A Markos Mihalatos
%A Angela Apessos
%A Hans Dauwerse
%A Voula Velissariou
%A Aristidis Psychias
%A Alexander Koliopanos
%A Konstantinos Petropoulos
%A John K Triantafillidis
%A Ioannis Danielidis
%A George Fountzilas
%A Niki J Agnantis
%A Georgios Nasioulas
%J BMC Cancer
%D 2005
%I BioMed Central
%R 10.1186/1471-2407-5-40
%X In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography), sequencing, MLPA (Multiplex Ligation ¨C dependent Probe Amplification), Karyotyping, FISH (Fluorescence In Situ Hybridization) and RT-PCR (Reverse Transcription ¨C Polymerase Chain Reaction).A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA) and a nonsense mutation (C1690T) were identified in the rest of the patients.Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations.Germline mutations in the APC gene are the causative factor for the Familial Adenomatous Polyposis syndrome which follows an autosomal dominant inheritance pattern [1,2]. FAP patients develop multiple to thousands of colonic polyps before their second decade of life.If polyps are left untreated they give rise to colorectal cancer in almost all cases. The syndrome has two forms, one referred to as classic FAP and one milder form referred to as attenuated FAP (AFAP) [3]. Most FAP patients develop certain extracolonic features [3,4]. Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) is present in the majority of FAP patients. Nearly 94% of APC germline mutations lead to a truncated protein product. Thirty three percent of APC mutations represent nonsense point mutations, 6% small insertions and 55% small deletions [5].Recently, a number of studies have demonstrated the presence of less common APC mutations in FAP patients,
%U http://www.biomedcentral.com/1471-2407/5/40