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Colorectal cancer

MedGen UID:
Concept ID:
Neoplastic Process
Synonyms: Colorectal cancer, somatic; Malignant Colorectal Neoplasm
SNOMED CT: Cancer of large intestine (363510005); Cancer of large bowel (363510005); CA - Cancer of large bowel (363510005); Malignant tumor of large intestine (363510005)
Genes (locations): AKT1 (14q32.33); APC (5q22.2); AURKA (20q13.2); AXIN2 (17q24.1); BAX (19q13.33); BRAF (7q34); BUB1 (2q13); BUB1B (15q15.1); CCND1 (11q13.3); CTNNB1 (3p22.1); DCC (18q21.2); DLC1 (8p22); EP300 (22q13.2); FGFR3 (4p16.3); FLCN (17p11.2); MCC (5q22.2); MLH3 (14q24.3); NRAS (1p13.2); PDGFRL (8p22); PIK3CA (3q26.32); PLA2G2A (1p36.13); PTPN12 (7q11.23); PTPRJ (11p11.2); RAD54B (8q22.1); SRC (20q11.23); TLR2 (4q31.3); TP53 (17p13.1)
Monarch Initiative: MONDO:0005575
OMIM®: 114500
Orphanet: ORPHA466667

Disease characteristics

Excerpted from the GeneReview: Lynch Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome. [from GeneReviews]
Gregory Idos  |  Laura Valle   view full author information

Additional 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 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). Colorectal cancer is a predominant form of cancer in tumor predisposition syndrome-4 (TPDS4; 609265), which is caused by mutation in the CHEK2 gene (604373). 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; CRCS3 (612229) is conferred by variation in the SMAD7 gene (602932) on chromosome 18; CRCS4 (601228) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (603054); CRCS5 (612230) maps to chromosome 10p14; CRCS6 (612231) maps to chromosome 8q23; CRCS7 (612232) maps to chromosome 11q23; CRCS8 (612589) maps to chromosome 14q22; CRCS9 (612590) maps to 16q22; CRCS10 (612591) is conferred by mutation in the POLD1 gene (174761) on chromosome 19q13; CRCS11 (612592) maps to chromosome 20p12; and CRCS12 (615083) is conferred by mutation in the POLE gene (174762) on chromosome 12q24. Somatic mutations in many different genes, including KRAS (190070), PIK3CA (171834), BRAF (164757), CTNNB1 (116806), FGFR3 (134934), AXIN2 (604025), AKT1 (164730), MCC (159350), MYH11 (160745), PARK2 (602544), RNF43 (612482), and BUB1 (601452), have been identified in colorectal cancer.  http://www.omim.org/entry/114500

Clinical features

From HPO
Renal cell carcinoma
MedGen UID:
Concept ID:
Neoplastic Process
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Transitional cell carcinoma of the bladder
MedGen UID:
Concept ID:
Neoplastic Process
The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
Uterine leiomyosarcoma
MedGen UID:
Concept ID:
Neoplastic Process
The presence of a leiomyosarcoma of the uterus.
Neoplasm of stomach
MedGen UID:
Concept ID:
Neoplastic Process
A tumor (abnormal growth of tissue) of the stomach.
Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
Concept ID:
Neoplastic Process

Term Hierarchy

Professional guidelines


Kastrinos F, Kupfer SS, Gupta S
Gastroenterology 2023 Apr;164(5):812-827. Epub 2023 Feb 24 doi: 10.1053/j.gastro.2023.02.021. PMID: 36841490Free PMC Article
Cervantes A, Adam R, Roselló S, Arnold D, Normanno N, Taïeb J, Seligmann J, De Baere T, Osterlund P, Yoshino T, Martinelli E; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2023 Jan;34(1):10-32. Epub 2022 Oct 25 doi: 10.1016/j.annonc.2022.10.003. PMID: 36307056
Mitsala A, Tsalikidis C, Pitiakoudis M, Simopoulos C, Tsaroucha AK
Curr Oncol 2021 Apr 23;28(3):1581-1607. doi: 10.3390/curroncol28030149. PMID: 33922402Free PMC Article


UK NICE Guideline NG151, Colorectal cancer, 2021

Suggested Reading

Recent clinical studies


Ionescu VA, Gheorghe G, Bacalbasa N, Chiotoroiu AL, Diaconu C
Medicina (Kaunas) 2023 Sep 12;59(9) doi: 10.3390/medicina59091646. PMID: 37763765Free PMC Article
Tamraz M, Al Ghossaini N, Temraz S
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Chen K, Collins G, Wang H, Toh JWT
Curr Oncol 2021 Dec 13;28(6):5356-5383. doi: 10.3390/curroncol28060447. PMID: 34940086Free PMC Article
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JAMA 2021 May 18;325(19):1965-1977. doi: 10.1001/jama.2021.6238. PMID: 34003218
Zhou E, Rifkin S
Gastroenterol Clin North Am 2021 Mar;50(1):101-111. doi: 10.1016/j.gtc.2020.10.012. PMID: 33518157


Ionescu VA, Gheorghe G, Bacalbasa N, Chiotoroiu AL, Diaconu C
Medicina (Kaunas) 2023 Sep 12;59(9) doi: 10.3390/medicina59091646. PMID: 37763765Free PMC Article
Zhang Y, Zhang H, Zhu J, He Y, Wang P, Li D, Liu X, Jin W, Zhang J, Xu C, Yu Z, Zhao X, Cui L
BMC Cancer 2023 Feb 10;23(1):137. doi: 10.1186/s12885-023-10606-x. PMID: 36765336Free PMC Article
Aykut B, Lidsky ME
Surg Oncol Clin N Am 2023 Jan;32(1):119-141. Epub 2022 Nov 3 doi: 10.1016/j.soc.2022.07.009. PMID: 36410912
Eng C, Jácome AA, Agarwal R, Hayat MH, Byndloss MX, Holowatyj AN, Bailey C, Lieu CH
Lancet Oncol 2022 Mar;23(3):e116-e128. Epub 2022 Jan 31 doi: 10.1016/S1470-2045(21)00588-X. PMID: 35090673
US Preventive Services Task Force, Davidson KW, Barry MJ, Mangione CM, Cabana M, Caughey AB, Davis EM, Donahue KE, Doubeni CA, Krist AH, Kubik M, Li L, Ogedegbe G, Owens DK, Pbert L, Silverstein M, Stevermer J, Tseng CW, Wong JB
JAMA 2021 May 18;325(19):1965-1977. doi: 10.1001/jama.2021.6238. PMID: 34003218


Thomson CA, Aragaki AK, Prentice RL, Stefanick ML, Manson JE, Wactawski-Wende J, Watts NB, Van Horn L, Shikany JM, Rohan TE, Lane DS, Wild RA, Robles-Morales R, Shadyab AH, Saquib N, Cauley J
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Ronk H, Rosenblum JS, Kung T, Zhuang Z
Cancer Biol Med 2022 Nov 1;19(10):1428-39. doi: 10.20892/j.issn.2095-3941.2022.0330. PMID: 36342229Free PMC Article
Foster JM, Alexander HR, Zhang C
J Surg Oncol 2022 Jan;125(1):55-56. Epub 2021 Nov 11 doi: 10.1002/jso.26750. PMID: 34762306
Dasari A, Sobrero A, Yao J, Yoshino T, Schelman W, Yang Z, Chien C, Kania M, Tabernero J, Eng C
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Sanchez-Castañón M, Er TK, Bujanda L, Herreros-Villanueva M
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Lancet 2014 Apr 26;383(9927):1490-1502. Epub 2013 Nov 11 doi: 10.1016/S0140-6736(13)61649-9. PMID: 24225001

Clinical prediction guides

Yamamoto T, Kawada K, Obama K
Int J Mol Sci 2021 Jul 27;22(15) doi: 10.3390/ijms22158002. PMID: 34360768Free PMC Article
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Recent systematic reviews

Sihvola S, Kuosmanen L, Kvist T
Eur J Oncol Nurs 2022 Feb;56:102079. Epub 2021 Nov 23 doi: 10.1016/j.ejon.2021.102079. PMID: 34844135
Coughlin SS
Int J Colorectal Dis 2020 Jun;35(6):985-995. Epub 2020 Apr 21 doi: 10.1007/s00384-020-03585-z. PMID: 32314192
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    • NICE, 2021
      UK NICE Guideline NG151, Colorectal cancer, 2021

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