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Hypermutated Colorectal Carcinoma

MedGen UID:
1696099
Concept ID:
C5206465
Neoplastic Process
Synonym: Hypermutated Colorectal Cancer

Definition

A colorectal carcinoma characterized by a high mutational rate caused by DNA mismatch repair deficiency or POLE/POLD1 driver mutations. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypermutated Colorectal Carcinoma

Professional guidelines

PubMed

Johnson RM, Qu X, Lin CF, Huw LY, Venkatanarayan A, Sokol E, Ou FS, Ihuegbu N, Zill OA, Kabbarah O, Wang L, Bourgon R, de Sousa E Melo F, Bolen C, Daemen A, Venook AP, Innocenti F, Lenz HJ, Bais C
Nat Commun 2022 Sep 19;13(1):5478. doi: 10.1038/s41467-022-33172-5. PMID: 36117191Free PMC Article
Curtius K, Gupta S, Boland CR
Aliment Pharmacol Ther 2022 Apr;55(8):960-977. Epub 2022 Mar 21 doi: 10.1111/apt.16826. PMID: 35315099Free PMC Article
Sun BL
Clin Colorectal Cancer 2021 Mar;20(1):e12-e20. Epub 2020 Aug 10 doi: 10.1016/j.clcc.2020.08.001. PMID: 32888812

Recent clinical studies

Etiology

Bilal M, Raza SEA, Azam A, Graham S, Ilyas M, Cree IA, Snead D, Minhas F, Rajpoot NM
Lancet Digit Health 2021 Dec;3(12):e763-e772. Epub 2021 Oct 19 doi: 10.1016/S2589-7500(21)00180-1. PMID: 34686474Free PMC Article
Liu Y, Sethi NS, Hinoue T, Schneider BG, Cherniack AD, Sanchez-Vega F, Seoane JA, Farshidfar F, Bowlby R, Islam M, Kim J, Chatila W, Akbani R, Kanchi RS, Rabkin CS, Willis JE, Wang KK, McCall SJ, Mishra L, Ojesina AI, Bullman S, Pedamallu CS, Lazar AJ, Sakai R; Cancer Genome Atlas Research Network, Thorsson V, Bass AJ, Laird PW
Cancer Cell 2018 Apr 9;33(4):721-735.e8. Epub 2018 Apr 2 doi: 10.1016/j.ccell.2018.03.010. PMID: 29622466Free PMC Article
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article
Guinney J, Dienstmann R, Wang X, de Reyniès A, Schlicker A, Soneson C, Marisa L, Roepman P, Nyamundanda G, Angelino P, Bot BM, Morris JS, Simon IM, Gerster S, Fessler E, De Sousa E Melo F, Missiaglia E, Ramay H, Barras D, Homicsko K, Maru D, Manyam GC, Broom B, Boige V, Perez-Villamil B, Laderas T, Salazar R, Gray JW, Hanahan D, Tabernero J, Bernards R, Friend SH, Laurent-Puig P, Medema JP, Sadanandam A, Wessels L, Delorenzi M, Kopetz S, Vermeulen L, Tejpar S
Nat Med 2015 Nov;21(11):1350-6. Epub 2015 Oct 12 doi: 10.1038/nm.3967. PMID: 26457759Free PMC Article
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

Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Chen B, Scurrah CR, McKinley ET, Simmons AJ, Ramirez-Solano MA, Zhu X, Markham NO, Heiser CN, Vega PN, Rolong A, Kim H, Sheng Q, Drewes JL, Zhou Y, Southard-Smith AN, Xu Y, Ro J, Jones AL, Revetta F, Berry LD, Niitsu H, Islam M, Pelka K, Hofree M, Chen JH, Sarkizova S, Ng K, Giannakis M, Boland GM, Aguirre AJ, Anderson AC, Rozenblatt-Rosen O, Regev A, Hacohen N, Kawasaki K, Sato T, Goettel JA, Grady WM, Zheng W, Washington MK, Cai Q, Sears CL, Goldenring JR, Franklin JL, Su T, Huh WJ, Vandekar S, Roland JT, Liu Q, Coffey RJ, Shrubsole MJ, Lau KS
Cell 2021 Dec 22;184(26):6262-6280.e26. Epub 2021 Dec 14 doi: 10.1016/j.cell.2021.11.031. PMID: 34910928Free PMC Article
Bilal M, Raza SEA, Azam A, Graham S, Ilyas M, Cree IA, Snead D, Minhas F, Rajpoot NM
Lancet Digit Health 2021 Dec;3(12):e763-e772. Epub 2021 Oct 19 doi: 10.1016/S2589-7500(21)00180-1. PMID: 34686474Free PMC Article
Bortolomeazzi M, Keddar MR, Montorsi L, Acha-Sagredo A, Benedetti L, Temelkovski D, Choi S, Petrov N, Todd K, Wai P, Kohl J, Denner T, Nye E, Goldstone R, Ward S, Wilson GA, Al Bakir M, Swanton C, John S, Miles J, Larijani B, Kunene V, Fontana E, Arkenau HT, Parker PJ, Rodriguez-Justo M, Shiu KK, Spencer J, Ciccarelli FD
Gastroenterology 2021 Oct;161(4):1179-1193. Epub 2021 Jun 29 doi: 10.1053/j.gastro.2021.06.064. PMID: 34197832Free PMC Article
Boland PM, Yurgelun MB, Boland CR
CA Cancer J Clin 2018 May;68(3):217-231. Epub 2018 Feb 27 doi: 10.3322/caac.21448. PMID: 29485237Free PMC Article

Therapy

Johnson RM, Qu X, Lin CF, Huw LY, Venkatanarayan A, Sokol E, Ou FS, Ihuegbu N, Zill OA, Kabbarah O, Wang L, Bourgon R, de Sousa E Melo F, Bolen C, Daemen A, Venook AP, Innocenti F, Lenz HJ, Bais C
Nat Commun 2022 Sep 19;13(1):5478. doi: 10.1038/s41467-022-33172-5. PMID: 36117191Free PMC Article
Mukherji R, Weinberg BA, Pedersen KS
Hematol Oncol Clin North Am 2022 Jun;36(3):603-626. Epub 2022 May 13 doi: 10.1016/j.hoc.2022.02.010. PMID: 35577706
Doleschel D, Hoff S, Koletnik S, Rix A, Zopf D, Kiessling F, Lederle W
J Exp Clin Cancer Res 2021 Sep 13;40(1):288. doi: 10.1186/s13046-021-02043-0. PMID: 34517894Free PMC Article
Ciombor KK, Goldberg RM
Drugs 2018 Feb;78(2):155-162. doi: 10.1007/s40265-018-0863-0. PMID: 29350327Free PMC Article
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article

Prognosis

Heiser CN, Simmons AJ, Revetta F, McKinley ET, Ramirez-Solano MA, Wang J, Kaur H, Shao J, Ayers GD, Wang Y, Glass SE, Tasneem N, Chen Z, Qin Y, Kim W, Rolong A, Chen B, Vega PN, Drewes JL, Markham NO, Saleh N, Nikolos F, Vandekar S, Jones AL, Washington MK, Roland JT, Chan KS, Schürpf T, Sears CL, Liu Q, Shrubsole MJ, Coffey RJ, Lau KS
Cell 2023 Dec 7;186(25):5620-5637.e16. doi: 10.1016/j.cell.2023.11.006. PMID: 38065082Free PMC Article
Johnson RM, Qu X, Lin CF, Huw LY, Venkatanarayan A, Sokol E, Ou FS, Ihuegbu N, Zill OA, Kabbarah O, Wang L, Bourgon R, de Sousa E Melo F, Bolen C, Daemen A, Venook AP, Innocenti F, Lenz HJ, Bais C
Nat Commun 2022 Sep 19;13(1):5478. doi: 10.1038/s41467-022-33172-5. PMID: 36117191Free PMC Article
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article
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

Johnson RM, Qu X, Lin CF, Huw LY, Venkatanarayan A, Sokol E, Ou FS, Ihuegbu N, Zill OA, Kabbarah O, Wang L, Bourgon R, de Sousa E Melo F, Bolen C, Daemen A, Venook AP, Innocenti F, Lenz HJ, Bais C
Nat Commun 2022 Sep 19;13(1):5478. doi: 10.1038/s41467-022-33172-5. PMID: 36117191Free PMC Article
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Bilal M, Raza SEA, Azam A, Graham S, Ilyas M, Cree IA, Snead D, Minhas F, Rajpoot NM
Lancet Digit Health 2021 Dec;3(12):e763-e772. Epub 2021 Oct 19 doi: 10.1016/S2589-7500(21)00180-1. PMID: 34686474Free PMC Article
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium, Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I
Nat Genet 2013 Feb;45(2):136-44. Epub 2012 Dec 23 doi: 10.1038/ng.2503. PMID: 23263490Free PMC Article

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