The evidence for genetic testing for the adenomatous polyposis coli (APC) mutation in individuals with a clinical differential diagnosis of attenuated familial adenomatous polyposis (aFAP), MUTYHassociated polyposis and Lynch syndrome, or individuals who are at-risk relatives of patients with FAP, includes a TEC Assessment. Outcomes of interest are overall survival, disease-specific survival, t...

The adenomatous polyposis coli gene (APC) is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. Here the APC gene product is shown to bind through its armadillo repeat domain to a Rac-specific guanine nucleotide exchange factor (GEF), termed Asef. Endogenous APC colocalized with Asef in mouse colon epithelial cells and neuronal cells. Furthermore, APC enhanced the GEF ...

Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene...

An association between Birt-Hogg-Dubé syndrome (BHDS) and colon cancer remains conjectural, but herein we describe a case who may illustrate a significant link between them. The 60-year-old woman was diagnosed at 28 years of age with colon carcinoma and familial adenomatous polyposis (FAP). She also had repeated pneumothoraces, and was diagnosed with BHDS following the finding of pneumothorax i...

The first case of a patient with familial adenomatous polyposis (FAP) who developed pancreatitis after routine screening and biopsy of the ampulla of Vater is described.

Abstract Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ∼ 3% to 6% all CRCs are related inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The coli (APC) mutY DNA glycosylase (MUTYH) germline mutations the main genetic causes polyposis. Nevertheless, in many these genes have not been identified. aim present case report is descr...

Genetic Analysis of D-Loop Region Mitochondrial DNA Sequence in Iranian Patients with Familial Adenomatous Polyposis (FAP): A Case-Control Study