Biomaterial Database

Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli. 2010

T Tuohy, and R W Burt

Huntsman Cancer Institute, University of Utah, Salt Lake City, Uta 84112, USA. therese.tuohy@hci.utah.edu

UI	MeSH Term	Description	Entries
D007438	Introns	Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.	Intervening Sequences,Sequences, Intervening,Intervening Sequence,Intron,Sequence, Intervening
D008297	Male		Males
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
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D005260	Female		Females
D005785	Gene Conversion	The asymmetrical segregation of genes during replication which leads to the production of non-reciprocal recombinant strands and the apparent conversion of one allele into another. Thus, e.g., the meiotic products of an Aa individual may be AAAa or aaaA instead of AAaa, i.e., the A allele has been converted into the a allele or vice versa.	Polar Recombination,Polaron,Conversion, Gene,Conversions, Gene,Gene Conversions,Polar Recombinations,Polarons,Recombination, Polar,Recombinations, Polar
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015321	Gene Rearrangement	The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.	DNA Rearrangement,DNA Rearrangements,Gene Rearrangements,Rearrangement, DNA,Rearrangement, Gene,Rearrangements, DNA,Rearrangements, Gene
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