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Colorectal cancer

MedGen UID:
83428
Concept ID:
C0346629
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]
Authors:
Gregory Idos  |  Laura Valle   view full author information

Additional description

From OMIM
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:
766
Concept ID:
C0007134
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:
76013
Concept ID:
C0279680
Neoplastic Process
The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
Uterine leiomyosarcoma
MedGen UID:
83679
Concept ID:
C0280631
Neoplastic Process
The presence of a leiomyosarcoma of the uterus.
Neoplasm of stomach
MedGen UID:
20958
Concept ID:
C0038356
Neoplastic Process
A tumor (abnormal growth of tissue) of the stomach.
Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
870541
Concept ID:
C4024989
Neoplastic Process

Term Hierarchy

Professional guidelines

PubMed

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
Zielińska A, Włodarczyk M, Makaro A, Sałaga M, Fichna J
Crit Rev Oncol Hematol 2021 Jan;157:103122. Epub 2020 Oct 19 doi: 10.1016/j.critrevonc.2020.103122. PMID: 33171427

Curated

UK NICE Guideline NG151, Colorectal cancer, 2021

Suggested Reading

Recent clinical studies

Etiology

Ionescu VA, Gheorghe G, Bacalbasa N, Chiotoroiu AL, Diaconu C
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Diagnosis

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Therapy

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Elez E, Kopetz S, Tabernero J, Bekaii-Saab T, Taieb J, Yoshino T, Manji G, Fernandez K, Abbattista A, Zhang X, Morris VK
Future Oncol 2024 Apr;20(11):653-663. Epub 2023 Oct 10 doi: 10.2217/fon-2022-1249. PMID: 37815847
Ohnmacht AJ, Stahler A, Stintzing S, Modest DP, Holch JW, Westphalen CB, Hölzel L, Schübel MK, Galhoz A, Farnoud A, Ud-Dean M, Vehling-Kaiser U, Decker T, Moehler M, Heinig M, Heinemann V, Menden MP
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Prognosis

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Arnold M, Sierra MS, Laversanne M, Soerjomataram I, Jemal A, Bray F
Gut 2017 Apr;66(4):683-691. Epub 2016 Jan 27 doi: 10.1136/gutjnl-2015-310912. PMID: 26818619
Brenner H, Kloor M, Pox CP
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

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Recent systematic reviews

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    Curated

    • NICE, 2021
      UK NICE Guideline NG151, Colorectal cancer, 2021

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