Familial adenomatous polyposis of colon
Journal Title: Postępy Nauk Medycznych - Year 2010, Vol 23, Issue 7
Abstract
Familial adenomatous polyposis (FAP) is a well-known predisposition for the occurrence of a large number of polyps in the colon and rectum inherited in an autosomal dominant manner. First symptoms of FAP are diarrhea and blood in stool. Weight loss and weaknesses occur after the development of advanced tumour. The incidence of the FAP disorder is one per 10000 newborns. There is a high heterogeneity with regard to the number and time of the occurrence of polyps. The classical form of FAP is characterized by the occurrence of more than 100 polyps which appear in the second decade of life. The average time of occurrence of polyps is 15 years. The earliest symptoms of polyposis were observed in a three-year-old child. The polyps are characterized by large potential for the development towards malignant tumour. Turning into malignancy can occur from late childhood to the age of 70. Attenuated adenomatous polyposis coli cases are characterized by benign course of disease as opposed to the classical FAP. The occurrence of FAP is associated with mutations in the APC tumour suppressor gene, which was described in 1991. The APC gene is a tumour suppressor gene located on chromosome 5q21 involved in cell proliferation control. The recessive form of FAP is caused by mutation in the MUTYH gene occurring in homozygotic state. The MUTYH gene is involved in a repairing of the oxidative DNA damage. MUTYH associated polyposis (MAP) is predisposition for the occurrence of polyps of the colon but the number of polyps is lower in comparison to classical FAP. The high risks of cancer observed in those syndromes make them important medical issues. Molecular studies of colon polyposis have been performed in Poland for over ten years. A DNA Bank for Polish FAP patients was established at the Institute of Human Genetics in Poznań in which DNA samples from four hundred FAP families were collected.
Authors and Affiliations
Andrzej Pławski, Marta Podralska, Piotr Krokowicz, Jacek Paszkowski, Ryszard Słomski
Keywords
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