welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Familial Adenomatous Polyposis of the Colon
source: Hereditary Cancer in Clinical Practice
year: 2013
authors: Andrzej Plawski, Tomasz Banasiewicz, Pawel Borun, Lukasz Kubaszewski, Piotr Krokowicz, Marzena Skrzypczak Zielinska, Jan Lubinski
summary/abstract:Familial adenomatous polyposis (FAP) is a well-defined autosomal dominant predisposition to the development of polyposis in the colon and rectum at unusually early ages. The first symptoms of FAP are diarrhea and blood in the stool. Weight loss and weaknesses occur after the development of advanced tumour. The incidence of the FAP disorder is one per 10000 newborns. There are high levels of heterogeneity with regard to the number and timing of the occurrence of polyps. The classical form of FAP is characterized by the presence 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 have been observed in a three-year-old child. The polyps are characterized by large potential for the development towards malignant tumour. Malignancy can occur from late childhood onwards. Attenuated adenomatous polyposis coli is characterized by a more benign course of disease in contrast to 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 located on chromosome 5q21 and is involved in cell proliferation control. A recessive form of adenomatous polyposis is caused by mutations in the base excision repair gene – MUTYH gene. The MUTYH gene is involved in repairing DNA lesions as a result of oxidative DNA damage. MUTYH associated polyposis (MAP) is a predisposition to the development of polyps of the colon but the number of polyps is lower in comparison to classical FAP. The high risks of cancer observed in these two diseases make them important medical issues. Molecular studies of colonic polyposis have been performed in Poland for over fifteen years. A DNA Bank for Polish FAP patients was established at the Institute of Human Genetics in Poznan in which DNA samples from 600 FAP families have been collected.
organization: Pomeranian Medical University, Institute of Human Genetics, University of Medical SciencesDOI: 10.1186/1897-4287-11-15
read more
expertly curated content related to this topic
-
“waiting to get a colonoscopy was my biggest mistake” my familial adenomatous polyposis storyI went to the Mayo Clinic in Rochester, ...
-
Surgical Treatment in Familial Adenomatous PolyposisFamilial adenomatous polyposis (FAP) is ...
-
Pathways of Colorectal CarcinogenesisThis review of the molecular and cellula...
-
Progression of Duodenal Adenomatosis in Familial Adenomatous Polyposis: Due to Ageing of Subjects and Advances in Te...Familial adenomatous polyposis patients ...
-
Clinical and Genetic Characterization of Classical Forms of Familial Adenomatous Polyposis: A Spanish Population Stu...BACKGROUND : Classical familial adenomat...
-
Familial Adenomatous PolyposisFamilial adenomatous polyposis (FAP) is ...
-
Six Ways to Lower Your Risk for Colon CancerColon cancer is one of the more common c...