Familial Adenomatous Polyposis
Associated Genetic Biomarkers
NCI Definition: An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea. 
There are 3 clinical trials for familial adenomatous polyposis, of which 2 are open and 1 is completed or closed. Of the trials that contain familial adenomatous polyposis as an inclusion criterion, 1 is phase 2 (1 open) and 2 are phase 3 (1 open).
APC is the most frequent gene inclusion criterion for familial adenomatous polyposis clinical trials .
Eicosapentaenoic acid, erlotinib, and placebo are the most common interventions in familial adenomatous polyposis clinical trials.
Significant Genes in Familial Adenomatous Polyposis
APC is an inclusion eligibility criterion in 3 clinical trials for familial adenomatous polyposis, of which 2 are open and 1 is closed. Of the trials that contain APC status and familial adenomatous polyposis as inclusion criteria, 1 is phase 2 (1 open) and 2 are phase 3 (1 open) .
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.