Colorectal cancer

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;

Details

Origin ID

114500;

UMLS CUI

C0009402;

Automatic exact mappings (from CISMeF team)
- Clinical Coordinator [NCIt concept]
- Colon cancer [HPMULTI term]
- Colorectal Cancer Pathway [NCIt concept]
- Conditionally Reprogrammed Cells [NCIt concept]
- Cytogenetic Complete Response [NCIt concept]
- NCI CTEP SDC Colorectal Cancer Sub-Category Terminology [NCIt concept]
- colonic neoplasms [MeSH Descriptor]
- colorectal neoplasms [MeSH Descriptor]
- rehabilitation centers [CISMeF resources Type]
Currated CISMeF NLP mapping
- Cancer of Colon [TUV Concept]
- Cancer of Colon [TUV Term]
- Colon Carcinoma [NCIt concept]
- Colon cancer [PASCAL descriptor]
- Colon cancer [HPO term]
- Colon cancer [MedDRA Preferred Term]
- Colon cancer NOS [MedDRA LLT]
- Colonic cancer [MedDRA LLT]
- Colorectal Carcinoma [NCIt concept]
- Colorectal cancer [PASCAL descriptor]
- Colorectal cancer [MedDRA Preferred Term]
- Colorectal cancer NOS [MedDRA LLT]
- Colorectal neoplasms malignant [MedDRA High Level Term]
- Lynch 1 Syndrome [NCIt concept]
- Malignant Colon Neoplasm [NCIt concept]
- Malignant Colorectal Neoplasm [NCIt concept]
- Malignant neoplasm of colon [MedDRA LLT]
- Malignant neoplasm of colon [ICD-10 category]
- Malignant neoplasm of colon (disorder) [SNOMED CT concept]
- Malignant neoplasm of colon and/or rectum (disorder) [SNOMED CT concept]
- Malignant neoplasms of colon [ICD-11 Category]
- Primary malignant neoplasm of colon (disorder) [SNOMED CT concept]
- cancer of colon [MeSH concept]
- colo rectal cancer [Artificial nutrition thesaurus concept]
- colon cancer [DO Concept]
- colorectal cancer [DO Concept]
- colorectal cancer [Disease (Nov.)]
- colorectal cancer [Radlex concept]
- colorectal cancer [MedlinePlus Topic]
- malignant neoplasm colon/rectum [ICPC-2 Rubric]
- malignant neoplasm of colon, nos [SNOMED Notion]
- malignant neoplasm of large intestine, nos [SNOMED Notion]
DO Cross reference
- colorectal cancer [DO Concept]
Genes related to phenotype
- Akt serine/threonine kinase 1 [OMIM gene]
- Apc regulator of wnt signaling pathway [OMIM gene]
- Aurora kinase a [OMIM gene]
- Axis inhibitor 2 [OMIM gene]
- B-raf protooncogene, serine/threonine kinase [OMIM gene]
- Bcl2-associated X protein [OMIM gene]
- Bub1 mitotic checkpoint serine/threonine kinase [OMIM gene]
- Bub1 mitotic checkpoint serine/threonine kinase b [OMIM gene]
- Catenin, beta-1 [OMIM gene]
- Checkpoint kinase 2 [OMIM gene]
- Cyclin d1 [OMIM gene]
- Dcc netrin 1 receptor [OMIM gene]
- Dlc1 rho gtpase activating protein [OMIM gene]
- Dna mismatch repair protein mlh3 [OMIM gene]
- E1a-binding protein, 300-kd [OMIM gene]
- Fibroblast growth factor receptor 3 [OMIM gene]
- Folliculin [OMIM gene]
- Mcc regulator of wnt signaling pathway [OMIM gene]
- Nras protooncogene, gtpase [OMIM gene]
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
- Phospholipase a2, group iia [OMIM gene]
- Platelet-derived growth factor receptor-like [OMIM gene]
- Protein-tyrosine phosphatase, nonreceptor-type, 12 [OMIM gene]
- Protein-tyrosine phosphatase, receptor-type, j [OMIM gene]
- Rad54 homolog b [OMIM gene]
- Src protooncogene, nonreceptor tyrosine kinase [OMIM gene]
- Toll-like receptor 2 [OMIM gene]
- Tumor protein p53 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hereditary nonpolyposis colorectal carcinoma [HPO term]
- Neoplasm of the stomach [HPO term]
- Renal cell carcinoma [HPO term]
- Somatic mutation [HPO term]
- Transitional cell carcinoma of the bladder [HPO term]
- Uterine leiomyosarcoma [HPO term]
Narrower ORDO disease(s)
- Lynch syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Colorectal Carcinoma [NCIt concept]
- Colorectal cancer [MedDRA Preferred Term]
- Colorectal cancer NOS [MedDRA LLT]
- Colorectal carcinoma [MedDRA LLT]
- Colorectal carcinoma [PASCAL descriptor]
- Large intestine carcinoma [MedDRA LLT]
- colorectal cancer [MedlinePlus Topic]
- colorectal cancer [DO Concept]
- colorectal carcinoma [DO Concept]
Validated automatic mappings to BTNT
- colon cancer [Disease (Nov.)]
Validated automatic mappings to NTBT
- Malignant neoplasm of colon [ICD-9 code]

Keyword's position in hierarchy(ies) :

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