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Colorectal cancer(CRC)

MedGen UID:
3170
Concept ID:
C0009402
Neoplastic Process
Synonyms: Cancer, Colorectal; Cancers, Colorectal; Carcinoma, Colorectal; Carcinomas, Colorectal; Colorectal Cancer; Colorectal Cancers; Colorectal Carcinoma; Colorectal Carcinomas
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Somatic mutation (HPO, OMIM)
 
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)
Related genes: GALNT12, TGFBR2, STK11, POLD1, PMS2, PMS1, MUTYH, MSH2, MLH1, SMAD7, SMAD4, EPCAM, MSH6, BMPR1A
 
OMIM®: 114500

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

Clinical features

From HPO
Renal cell carcinoma
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.
Neoplasm of stomach
MedGen UID:
20958
Concept ID:
C0038356
Neoplastic Process
In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer. Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see 120435), familial adenomatous polyposis (FAP; 175100), Peutz-Jeghers syndrome (PJS; 175200), Cowden disease (CD; 158350), and the Li-Fraumeni syndrome (151623). See also hereditary diffuse gastric cancer (HDGC; 137215). Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see 600263).
Transitional cell carcinoma of the bladder
MedGen UID:
76013
Concept ID:
C0279680
Neoplastic Process
The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.
Uterine leiomyosarcoma
MedGen UID:
83679
Concept ID:
C0280631
Neoplastic Process
The presence of a leiomyosarcoma of the uterus.
Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
870541
Concept ID:
C4024989
Neoplastic Process
Renal cell carcinoma
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.
Transitional cell carcinoma of the bladder
MedGen UID:
76013
Concept ID:
C0279680
Neoplastic Process
The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.
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
In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer. Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see 120435), familial adenomatous polyposis (FAP; 175100), Peutz-Jeghers syndrome (PJS; 175200), Cowden disease (CD; 158350), and the Li-Fraumeni syndrome (151623). See also hereditary diffuse gastric cancer (HDGC; 137215). Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see 600263).
Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
870541
Concept ID:
C4024989
Neoplastic Process

Term Hierarchy

Suggested Reading

Recent clinical studies

Etiology

Surek A, Ferahman S, Gemici E, Corba K, Bozkurt MA, Donmez T, Karabulut M, Alis H
Bratisl Lek Listy 2021;122(6):432-437. doi: 10.4149/BLL_2021_071. PMID: 34002618
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Hirano H, Takashima A, Hamaguchi T, Shida D, Kanemitsu Y; Colorectal Cancer Study Group (CCSG) of the Japan Clinical Oncology Group (JCOG).
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Diagnosis

Surek A, Ferahman S, Gemici E, Corba K, Bozkurt MA, Donmez T, Karabulut M, Alis H
Bratisl Lek Listy 2021;122(6):432-437. doi: 10.4149/BLL_2021_071. PMID: 34002618
Huang RH, Yang WK, Wu CM, Yeh CM, Sung WW
Anticancer Res 2021 Jan;41(1):543-547. doi: 10.21873/anticanres.14806. PMID: 33419854
Chu H, Xin J, Yuan Q, Wu Y, Du M, Zheng R, Liu H, Wu S, Zhang Z, Wang M
Environ Int 2021 Feb;147:106309. Epub 2020 Dec 15 doi: 10.1016/j.envint.2020.106309. PMID: 33338681
Hussain I, Majeed A, Rasool MF, Hussain M, Imran I, Ullah M, Ullah H
J Oncol Pharm Pract 2021 Mar;27(2):359-367. Epub 2020 May 9 doi: 10.1177/1078155220922598. PMID: 32390538
Wong CH, Sundberg T, Chung VC, Voiss P, Cramer H
Support Care Cancer 2021 Jan;29(1):271-278. Epub 2020 May 1 doi: 10.1007/s00520-020-05494-x. PMID: 32358777Free PMC Article

Therapy

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
Li T, Liu G, Li J, Cui J, Wang X, Li W, Zhao Z, Zhang K, Liu T
J Int Med Res 2021 Apr;49(4):3000605211007050. doi: 10.1177/03000605211007050. PMID: 33858250Free PMC Article
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Environ Int 2021 Feb;147:106309. Epub 2020 Dec 15 doi: 10.1016/j.envint.2020.106309. PMID: 33338681
Hirano H, Takashima A, Hamaguchi T, Shida D, Kanemitsu Y; Colorectal Cancer Study Group (CCSG) of the Japan Clinical Oncology Group (JCOG).
Jpn J Clin Oncol 2021 Jan 1;51(1):10-19. doi: 10.1093/jjco/hyaa200. PMID: 33205813
Tabung FK, Noonan A, Lee DH, Song M, Clinton SK, Spakowicz D, Wu K, Cheng E, Meyerhardt JA, Fuchs CS, Giovannucci EL
BMC Cancer 2020 Aug 27;20(1):817. doi: 10.1186/s12885-020-07288-0. PMID: 32854644Free PMC Article

Prognosis

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Bratisl Lek Listy 2021;122(6):432-437. doi: 10.4149/BLL_2021_071. PMID: 34002618
Li J, Mo R, Zheng L
World J Surg Oncol 2021 Apr 13;19(1):117. doi: 10.1186/s12957-021-02226-1. PMID: 33849554Free PMC Article
Zhang W, Wang Z, Cai G, Huang P
World J Surg Oncol 2021 Mar 8;19(1):67. doi: 10.1186/s12957-021-02173-x. PMID: 33685455Free PMC Article
Huang RH, Yang WK, Wu CM, Yeh CM, Sung WW
Anticancer Res 2021 Jan;41(1):543-547. doi: 10.21873/anticanres.14806. PMID: 33419854
Wong CH, Sundberg T, Chung VC, Voiss P, Cramer H
Support Care Cancer 2021 Jan;29(1):271-278. Epub 2020 May 1 doi: 10.1007/s00520-020-05494-x. PMID: 32358777Free PMC Article

Clinical prediction guides

Huang RH, Yang WK, Wu CM, Yeh CM, Sung WW
Anticancer Res 2021 Jan;41(1):543-547. doi: 10.21873/anticanres.14806. PMID: 33419854
Chu H, Xin J, Yuan Q, Wu Y, Du M, Zheng R, Liu H, Wu S, Zhang Z, Wang M
Environ Int 2021 Feb;147:106309. Epub 2020 Dec 15 doi: 10.1016/j.envint.2020.106309. PMID: 33338681
Hussain I, Majeed A, Rasool MF, Hussain M, Imran I, Ullah M, Ullah H
J Oncol Pharm Pract 2021 Mar;27(2):359-367. Epub 2020 May 9 doi: 10.1177/1078155220922598. PMID: 32390538
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Support Care Cancer 2021 Jan;29(1):271-278. Epub 2020 May 1 doi: 10.1007/s00520-020-05494-x. PMID: 32358777Free PMC Article
Karmokar PF, Shabnaz S, Aziz MA, Asaduzzaman M, Shahriar M, Bhuiyan MA, Mosaddek ASM, Islam MS
Tumour Biol 2020 Sep;42(9):1010428320958955. doi: 10.1177/1010428320958955. PMID: 32921281

Recent systematic reviews

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Lauka L, Reitano E, Carra MC, Gaiani F, Gavriilidis P, Brunetti F, de'Angelis GL, Sobhani I, de'Angelis N
World J Surg Oncol 2019 Dec 2;17(1):204. doi: 10.1186/s12957-019-1754-x. PMID: 31791356Free PMC Article
GBD 2017 Colorectal Cancer Collaborators.
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