Preferred Label : Colorectal cancer;
Symbol : CRC;
CISMeF acronym : CRC;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Colon cancer;
Description : Colorectal cancer is a heterogeneous disease that is common in both men and women.
In addition to lifestyle and environmental risk factors, gene defects can contribute
to an inherited predisposition to CRC. CRC is caused by changes in different molecular
pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype,
and microsatellite instability. Chromosome instability is the most common alteration
and is present in almost 85% of all cases (review by Schweiger et al., 2013). - Genetic
Heterogeneity of Colorectal Cancer Mutations in a single gene result in a marked predisposition
to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP;
175100) and hereditary nonpolyposis colorectal cancer (HNPCC; see 120435). FAP is
caused by mutations in the APC gene (611731), whereas HNPCC is caused by mutations
in several genes, including MSH2 (609309), MLH1 (120436), PMS1 (600258), PMS2 (600259),
MSH6 (600678), TGFBR2 (190182), and MLH3 (604395). Epigenetic silencing of MSH2 results
in a form of HNPCC (see HNPCC8, 613244). Other colorectal cancer syndromes include
autosomal recessive adenomatous polyposis (608456), which is caused by mutations in
the MUTYH gene (604933), and oligodontia-colorectal cancer syndrome (608615), which
is caused by mutations in the AXIN2 gene (604025). The CHEK2 gene (604373) has been
implicated in susceptibility to colorectal cancer in Finnish patients. A germline
mutation in the PLA2G2A gene (172411) was identified in a patient with colorectal
cancer. Germline susceptibility loci for colorectal cancer have also been identified.
CRCS1 (608812) is conferred by mutation in the GALNT12 gene (610290) on chromosome
9q22; CRCS2 (611469) maps to chromosome 8q24;;
Inheritance : Somatic mutation; Autosomal dominant;
Neoplasia : Colorectal cancer;
Prefixed ID : #114500;
Origin ID : 114500;
UMLS CUI : C0009402;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
Narrower ORDO disease(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
Validated automatic mappings to NTBT