Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of adenomatous polyps in the colon and rectum, with inevitable development of colorectal cancer if left untreated. FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene, with near 100% risk of development of colonic adenocarcinoma
APC gene is a tumor suppressor gene. This gene is responsible for coding for a large protein. This protein is very crucial for cell stability, integrity and important for cell to cell interaction. When this gene is mutated, it is responsible for Colorectal carcinoma. Colorectal carcinoma is one of the cancers that can be genetically inherited. One of the inheritance ways of Colorectal carcinoma is through APC mutation. Germline mutation or delation of the APC gene located on Chromosome 5 (5q21) is the most common cause with an incidence of between 1:17,000 and 1:5,000. This is followed by somatic mutation in the process of adenoma-carcinoma sequences. The germline mutation is responsible for the development of familial adenomatous polyposis. Inactivation of the second allele is necessary for the development of the adenomatous polyposis which usually occurs as a deletion
APC inactivation is also present as a somatic mutation in about 70% of the sporadic adenomas and adenocarcinomas. The fact that APC gene abnormality can be found in most adenomas even of small size, indicates that this tumor suppressor gene plays a crucial role in the initiation of colonic carcinogenesis
:Test available at First Medical Lab
Immunohistochemistry: the product of APC inactivation is a large protein that can be expressed in adenoma-carcinoma polyps
Genetic testing for APC gene by PCR is recommended with family history of patient with colon carcinoma
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.Dr. Hussam Abu-Farsakh, M.D
American boards of Anatomic, clinical pathology & Cytopathology