Nine novel APC mutations in Italian FAP patients

Human Mutation
N RestaG Guanti

Abstract

Familial adenomatous polyposis (FAP) is a common hereditary syndrome characterized by early development of colorectal cancer consequent to extensive adenomatous polyps of the colon. In addition to the colonic manifestations the syndrome presents several extracolonic features including polyps of the upper gastrointestinal tract, congenital hypertrophy of the retinal pigment, jaw cysts, osteomata and desmoid tumors. In this study the entire APC coding region has been analysed for mutation in a panel of one Turcot and 33 unrelated Italian FAP patients using SSCP analysis, PTT and DNA sequencing. We detected APC mutations in 23 of them and identified nine which, to our knowledge were not previously reported. All of these novel mutations are in exon 15, including two nonsense mutations, 6 deletions or insertions leading to premature termination of the protein and one missense mutation (7697G>A). This last mutation occurs in the EB1-binding domain of the APC protein and segregates in four relatives of the patient with three of them presenting 2-3 adenomatous polyps.

Citations

Oct 27, 2007·Diseases of the Colon and Rectum·Marjorie K De la FuenteFrancisco López-Köstner
Oct 7, 2010·Annals of Oncology : Official Journal of the European Society for Medical Oncology·B RiveraM Urioste
Oct 3, 2006·Biochimica Et Biophysica Acta·Pekka KatajistoTomi P Mäkelä
Feb 9, 2010·Genetic Testing and Molecular Biomarkers·Federica CensiDomenica Taruscio
Feb 18, 2004·Journal of Biomedical Science·Shu-Chen WeiJau-Min Wong
Apr 30, 2010·Disease Models & Mechanisms·Paula Hernandez, Jennifer S Tirnauer

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