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Colorectal cancer, susceptibility to, 12(CRCS12)

MedGen UID:
767374
Concept ID:
C3554460
Finding
Synonyms: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24; CRCS12
 
Gene (location): POLE (12q24.33)
 
Monarch Initiative: MONDO:0014038
OMIM®: 615083

Definition

Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500. [from OMIM]

Clinical features

From HPO
Carcinoma
MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).
Colorectal polyposis
MedGen UID:
182694
Concept ID:
C0949059
Neoplastic Process
Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.

Professional guidelines

PubMed

Allen I, Hassan H, Walburga Y, Huntley C, Loong L, Rahman T, Allen S, Garrett A, Torr B, Bacon A, Knott C, Jose S, Vernon S, Lüchtenborg M, Pethick J, Santaniello F, Goel S, Wang YW, Lavelle K, McRonald F, Eccles D, Morris E, Hardy S, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC
J Clin Oncol 2025 Feb 20;43(6):651-661. Epub 2024 Oct 29 doi: 10.1200/JCO.24.01146. PMID: 39475295Free PMC Article
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C
Lancet Oncol 2023 Jan;24(1):91-106. Epub 2022 Nov 24 doi: 10.1016/S1470-2045(22)00643-X. PMID: 36436516Free PMC Article
Lynch PM
J Natl Compr Canc Netw 2013 Dec 1;11(12):1577-83. doi: 10.6004/jnccn.2013.0181. PMID: 24335689

Recent clinical studies

Etiology

Zygulska AL, Pierzchalski P
Int J Mol Sci 2022 Jan 13;23(2) doi: 10.3390/ijms23020852. PMID: 35055034Free PMC Article
Fujita M, Liu X, Iwasaki Y, Terao C, Mizukami K, Kawakami E, Takata S, Inai C, Aoi T, Mizukoshi M, Maejima K, Hirata M, Murakami Y, Kamatani Y, Kubo M, Akagi K, Matsuda K, Nakagawa H, Momozawa Y
Clin Gastroenterol Hepatol 2022 Sep;20(9):2132-2141.e9. Epub 2020 Dec 11 doi: 10.1016/j.cgh.2020.12.007. PMID: 33309985
Kasprzak A
Int J Mol Sci 2021 Jun 16;22(12) doi: 10.3390/ijms22126434. PMID: 34208601Free PMC Article
Keum N, Giovannucci E
Nat Rev Gastroenterol Hepatol 2019 Dec;16(12):713-732. Epub 2019 Aug 27 doi: 10.1038/s41575-019-0189-8. PMID: 31455888
Boland CR, Goel A
Gastroenterology 2010 Jun;138(6):2073-2087.e3. doi: 10.1053/j.gastro.2009.12.064. PMID: 20420947Free PMC Article

Diagnosis

Zeng K, Li W, Wang Y, Zhang Z, Zhang L, Zhang W, Xing Y, Zhou C
Adv Sci (Weinh) 2023 Sep;10(25):e2301088. Epub 2023 Jul 10 doi: 10.1002/advs.202301088. PMID: 37428466Free PMC Article
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C
Lancet Oncol 2023 Jan;24(1):91-106. Epub 2022 Nov 24 doi: 10.1016/S1470-2045(22)00643-X. PMID: 36436516Free PMC Article
Zygulska AL, Pierzchalski P
Int J Mol Sci 2022 Jan 13;23(2) doi: 10.3390/ijms23020852. PMID: 35055034Free PMC Article
Fujita M, Liu X, Iwasaki Y, Terao C, Mizukami K, Kawakami E, Takata S, Inai C, Aoi T, Mizukoshi M, Maejima K, Hirata M, Murakami Y, Kamatani Y, Kubo M, Akagi K, Matsuda K, Nakagawa H, Momozawa Y
Clin Gastroenterol Hepatol 2022 Sep;20(9):2132-2141.e9. Epub 2020 Dec 11 doi: 10.1016/j.cgh.2020.12.007. PMID: 33309985
Keum N, Giovannucci E
Nat Rev Gastroenterol Hepatol 2019 Dec;16(12):713-732. Epub 2019 Aug 27 doi: 10.1038/s41575-019-0189-8. PMID: 31455888

Therapy

Yarmolinsky J, Díez-Obrero V, Richardson TG, Pigeyre M, Sjaarda J, Paré G, Walker VM, Vincent EE, Tan VY, Obón-Santacana M, Albanes D, Hampe J, Gsur A, Hampel H, Pai RK, Jenkins M, Gallinger S, Casey G, Zheng W, Amos CI; International Lung Cancer Consortium; PRACTICAL consortium; MEGASTROKE consortium, Smith GD, Martin RM, Moreno V
PLoS Med 2022 Feb;19(2):e1003897. Epub 2022 Feb 3 doi: 10.1371/journal.pmed.1003897. PMID: 35113855Free PMC Article
Bai Z, Zhou Y, Ye Z, Xiong J, Lan H, Wang F
Front Immunol 2021;12:808964. Epub 2022 Jan 14 doi: 10.3389/fimmu.2021.808964. PMID: 35095898Free PMC Article
Kasprzak A
Int J Mol Sci 2021 Jun 16;22(12) doi: 10.3390/ijms22126434. PMID: 34208601Free PMC Article
Bull CJ, Bell JA, Murphy N, Sanderson E, Davey Smith G, Timpson NJ, Banbury BL, Albanes D, Berndt SI, Bézieau S, Bishop DT, Brenner H, Buchanan DD, Burnett-Hartman A, Casey G, Castellví-Bel S, Chan AT, Chang-Claude J, Cross AJ, de la Chapelle A, Figueiredo JC, Gallinger SJ, Gapstur SM, Giles GG, Gruber SB, Gsur A, Hampe J, Hampel H, Harrison TA, Hoffmeister M, Hsu L, Huang WY, Huyghe JR, Jenkins MA, Joshu CE, Keku TO, Kühn T, Kweon SS, Le Marchand L, Li CI, Li L, Lindblom A, Martín V, May AM, Milne RL, Moreno V, Newcomb PA, Offit K, Ogino S, Phipps AI, Platz EA, Potter JD, Qu C, Quirós JR, Rennert G, Riboli E, Sakoda LC, Schafmayer C, Schoen RE, Slattery ML, Tangen CM, Tsilidis KK, Ulrich CM, van Duijnhoven FJB, van Guelpen B, Visvanathan K, Vodicka P, Vodickova L, Wang H, White E, Wolk A, Woods MO, Wu AH, Campbell PT, Zheng W, Peters U, Vincent EE, Gunter MJ
BMC Med 2020 Dec 17;18(1):396. doi: 10.1186/s12916-020-01855-9. PMID: 33327948Free PMC Article
Keum N, Giovannucci E
Nat Rev Gastroenterol Hepatol 2019 Dec;16(12):713-732. Epub 2019 Aug 27 doi: 10.1038/s41575-019-0189-8. PMID: 31455888

Prognosis

Bai Z, Zhou Y, Ye Z, Xiong J, Lan H, Wang F
Front Immunol 2021;12:808964. Epub 2022 Jan 14 doi: 10.3389/fimmu.2021.808964. PMID: 35095898Free PMC Article
Kim J, Lee HK
Front Immunol 2021;12:807648. Epub 2022 Jan 7 doi: 10.3389/fimmu.2021.807648. PMID: 35069592Free PMC Article
Kasprzak A
Int J Mol Sci 2021 Jun 16;22(12) doi: 10.3390/ijms22126434. PMID: 34208601Free PMC Article
Keum N, Giovannucci E
Nat Rev Gastroenterol Hepatol 2019 Dec;16(12):713-732. Epub 2019 Aug 27 doi: 10.1038/s41575-019-0189-8. PMID: 31455888
Boland CR, Goel A
Gastroenterology 2010 Jun;138(6):2073-2087.e3. doi: 10.1053/j.gastro.2009.12.064. PMID: 20420947Free PMC Article

Clinical prediction guides

Lv S, Ding Y, Huang J, He Y, Xie R, Shi X, Ye W
Clin Nutr 2024 Jun;43(6):1405-1413. Epub 2024 Apr 25 doi: 10.1016/j.clnu.2024.04.019. PMID: 38691983
Bull C, Hazelwood E, Bell JA, Tan V, Constantinescu AE, Borges C, Legge D, Burrows K, Huyghe JR, Brenner H, Castellvi-Bel S, Chan AT, Kweon SS, Le Marchand L, Li L, Cheng I, Pai RK, Figueiredo JC, Murphy N, Gunter MJ, Timpson NJ, Vincent EE
Elife 2023 Dec 21;12 doi: 10.7554/eLife.87894. PMID: 38127078Free PMC Article
Lindström S, Wang L, Feng H, Majumdar A, Huo S, Macdonald J, Harrison T, Turman C, Chen H, Mancuso N, Bammler T; Breast Cancer Association Consortium (BCAC), Gallinger S, Gruber SB, Gunter MJ, Le Marchand L, Moreno V, Offit K; Colorectal Transdisciplinary Study (CORECT), Colon Cancer Family Registry Study (CCFR), Genetics And Epidemiology Of Colorectal Cancer Consortium (GECCO), De Vivo I, O'Mara TA, Spurdle AB, Tomlinson I; Endometrial Cancer Association Consortium (ECAC), Fitzgerald R, Gharahkhani P, Gockel I, Jankowski J, Macgregor S, Schumacher J, Barnholtz-Sloan J, Bondy ML, Houlston RS, Jenkins RB, Melin B, Wrensch M, Brennan P, Christiani DC, Johansson M, Mckay J, Aldrich MC, Amos CI, Landi MT, Tardon A; International Lung Cancer Consortium (ILCCO), Bishop DT, Demenais F, Goldstein AM, Iles MM, Kanetsky PA, Law MH; Ovarian Cancer Association Consortium (OCAC), Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM; Pancreatic Cancer Cohort Consortium (Panscan), Klein A, Petersen G, Risch H; Pancreatic Cancer Case-Control Consortium (Panc4), The PRACTICAL Consortium, Chanock SJ, Purdue MP, Scelo G, Pharoah P, Kar S, Hung RJ, Pasaniuc B, Kraft P
J Natl Cancer Inst 2023 Jun 8;115(6):712-732. doi: 10.1093/jnci/djad043. PMID: 36929942Free PMC Article
Kim J, Lee HK
Front Immunol 2021;12:807648. Epub 2022 Jan 7 doi: 10.3389/fimmu.2021.807648. PMID: 35069592Free PMC Article
Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC
Genet Med 2016 Oct;18(10):974-81. Epub 2016 Feb 4 doi: 10.1038/gim.2015.212. PMID: 26845104

Recent systematic reviews

Sharzehan MAK, Sito H, Abdullah N, Alexiou A, Papadakis M, Jamal R, Tan SC
Sci Rep 2022 Nov 23;12(1):20149. doi: 10.1038/s41598-022-24398-w. PMID: 36418904Free PMC Article
Sargazi S, Abghari AZ, Sarani H, Sheervalilou R, Mirinejad S, Saravani R, Eskandari E
Appl Biochem Biotechnol 2021 Dec;193(12):4172-4196. Epub 2021 Aug 31 doi: 10.1007/s12010-021-03613-w. PMID: 34463927
Zhang BL, He N, Huang YB, Song FJ, Chen KX
Asian Pac J Cancer Prev 2014;15(11):4643-50. doi: 10.7314/apjcp.2014.15.11.4643. PMID: 24969898
Fonseca-Nunes A, Jakszyn P, Agudo A
Cancer Epidemiol Biomarkers Prev 2014 Jan;23(1):12-31. Epub 2013 Nov 15 doi: 10.1158/1055-9965.EPI-13-0733. PMID: 24243555
Jiang O, Zhou R, Wu D, Liu Y, Wu W, Cheng N
Tumour Biol 2013 Apr;34(2):1215-24. Epub 2013 Jan 25 doi: 10.1007/s13277-013-0664-8. PMID: 23355335

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