The purpose of this study is to elucidate and compare the differences in

molecular and clinical findings in colon cells from a FAP patient at age 18 and 40.
Aiming to find differences in number of polyps present, patterns and levels of
Beta catenin levels as well as D cyclin levels and observing somatic mutations of
the normal apc1 inactivating it which was not present in the patient at 18 which
has been linked with loss of APC function.

FAP is caused by an inactivating germline mutation in the adenomatous polyposis coli (APC) gene.

Colorectal cancer is a significant cause of morbidity and mortality in Western populations. This cancer
develops because of the pathologic transformation of normal colonic epithelium to an adenomatous
polyp and ultimately an invasive cancer. The multistep progression requires years and possibly
decades and is accompanied by a number of recently characterized genetic alterations. Mutations in
two classes of genes, tumor-suppressor genes and proto-oncogenes, are thought to impart a
proliferative advantage to cells and contribute to development of the malignant phenotype.
Inactivating mutations of both copies (alleles) of the adenomatous polyposis coli (APC) gene--a
tumor-suppressor gene on chromosome 5q--mark one of the earliest events in colorectal
carcinogenesis. Germline mutation of the APC gene and subsequent somatic mutation of the second
APC allele cause the inherited familial adenomatous polyposis syndrome. This syndrome is
characterized by the presence of hundreds to thousands of colonic adenomatous polyps. If these
polyps are left untreated, colorectal cancer develops.

FAP arises due to an inactivating germline mutation in the APC gene. Familial adenomatous polyposis
is the most present adenomatous polyposis syndrome out of all three. FAP inheritance has been
established to be autosomal dominant disease meaning one version of the faulty
allele is enough. FAP is characterized by the early onset of hundreds to
thousands of adenomatous polyps throughout the colon. If left untreated, all
patients with this syndrome will develop colon cancer by age 35-40 years. In
addition, an increased risk exists for the development of other malignancies. See
the image below.