Biomaterial Database

The adenomatous polyposis coli (APC) tumour suppressor--genetics, function and disease. 2000

O M Sieber, and I P Tomlinson, and H Lamlum

Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London, UK, WC2A 3PX.

Mutations in the adenomatous polyposis coli (APC) gene are the basis of familial adenomatous polyposis and the majority of sporadic colorectal cancer. APC is expressed in a wide variety of tissues, interacts with the cytoskeleton, is involved in regulating levels of beta-catenin and, most recently, has been shown to bind DNA, suggesting that it may possess a nuclear role. The mutation spectrum implicated in tumorigenesis and its correlation with disease phenotype is well characterized and has contributed to our understanding of important functional domains in APC. Despite these advances, APC continues to provide a fertile subject of research for both colorectal tumorigenesis and cancer in general.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011125	Adenomatous Polyposis Coli	A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.	Polyposis Coli, Familial,Polyposis Syndrome, Familial,Adenomatous Polyposis Coli, Familial,Adenomatous Polyposis of the Colon,Familial Adenomatous Polyposis,Familial Adenomatous Polyposis Coli,Familial Adenomatous Polyposis of the Colon,Familial Intestinal Polyposis,Familial Multiple Polyposi,Familial Multiple Polyposis,Familial Multiple Polyposis Syndrome,Familial Polyposis Coli,Familial Polyposis Syndrome,Familial Polyposis of the Colon,Hereditary Polyposis Coli,Myh-Associated Polyposis,Polyposis Coli,Polyposis, Adenomatous Intestinal,Adenomatous Intestinal Polyposes,Adenomatous Intestinal Polyposis,Adenomatous Polyposes, Familial,Adenomatous Polyposis Colus,Adenomatous Polyposis, Familial,Coli, Adenomatous Polyposis,Coli, Familial Polyposis,Coli, Hereditary Polyposis,Coli, Polyposis,Colus, Adenomatous Polyposis,Colus, Familial Polyposis,Colus, Hereditary Polyposis,Colus, Polyposis,Familial Adenomatous Polyposes,Familial Intestinal Polyposes,Familial Multiple Polyposes,Familial Multiple Polyposus,Familial Polyposis Colus,Familial Polyposis Syndromes,Hereditary Polyposis Colus,Intestinal Polyposes, Familial,Intestinal Polyposis, Adenomatous,Intestinal Polyposis, Familial,Multiple Polyposes, Familial,Multiple Polyposi, Familial,Multiple Polyposis, Familial,Multiple Polyposus, Familial,Myh Associated Polyposis,Myh-Associated Polyposes,Polyposes, Familial Adenomatous,Polyposes, Familial Multiple,Polyposes, Myh-Associated,Polyposi, Familial Multiple,Polyposis Coli, Adenomatous,Polyposis Coli, Hereditary,Polyposis Colus,Polyposis Colus, Adenomatous,Polyposis Colus, Familial,Polyposis Colus, Hereditary,Polyposis, Familial Adenomatous,Polyposis, Familial Multiple,Polyposis, Myh-Associated,Polyposus, Familial Multiple
D003598	Cytoskeletal Proteins	Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.	Proteins, Cytoskeletal
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015179	Colorectal Neoplasms	Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.	Colorectal Cancer,Colorectal Carcinoma,Colorectal Tumors,Neoplasms, Colorectal,Cancer, Colorectal,Cancers, Colorectal,Carcinoma, Colorectal,Carcinomas, Colorectal,Colorectal Cancers,Colorectal Carcinomas,Colorectal Neoplasm,Colorectal Tumor,Neoplasm, Colorectal,Tumor, Colorectal,Tumors, Colorectal
D017491	Genes, APC	Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.	Genes, Adenomatous Polyposis Coli,APC Gene,APC Genes,Gene, APC
D025601	Adenomatous Polyposis Coli Protein	A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.