Uses of a familial adenomatous polyposis registry.

Familial adenomatous polyposis, diagnosis and surveillance strategies: review article

Familial adenomatous polyposis is characterized by over 100 colorectal adenomas in the colorectum. The disease equally affects both sexes, with an incidence estimated at 1.14025-1.8300. The disease is premature in people with familial adenomatous polyposis. Patients suffering from familial adenomatous polyposis have a range of extra-intestinal diseases such as papillae, gastric, small intestine...

A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

Association of Pathogenic Missense and Nonsense Mutations in Mitochondrial COII Gene with Familial Adenomatous Polyposis (FAP)

Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form‌ of colorectal cancer and an autosomal dominant inheri...

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

Background and Objectives: Familial adenomatous polyposis (FAP) is an inherited disorder and a rare form of colorectal cancer. This disease appears equally in both sexes and its occurrence is more in the second or third decade of life. Mutations and alterations of the mitochondrial genome, especially the D-loop region, have been reported in various human tumors. But the exact role of these muta...

Phenotype and management of patients with familial adenomatous polyposis in Hong Kong: perspective of the Hereditary Gastrointestinal Cancer Registry.

OBJECTIVES To report on the phenotypic spectrum and clinical management of Chinese patients suffering from the rare autosomal dominant colorectal cancer syndrome of familial adenomatous polyposis. DESIGN Analysis of prospectively collected data from the database of a regional registry. SETTING The Hereditary Gastrointestinal Cancer Registry, Hong Kong. PARTICIPANTS One hundred and eight p...

Familial Adenomatous Polyposis Registry in Czech Republic - History, Present and Future.