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Hereditary nonpolyposis colorectal neoplasms

MedGen UID:
40399
Concept ID:
C0009405
Neoplastic Process
Synonyms: Colorectal Neoplasms, Hereditary Nonpolyposis; Familial Nonpolyposis Colon Cancer; Hereditary Nonpolyposis Colorectal Neoplasms

Definition

A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hereditary nonpolyposis colorectal neoplasms

Professional guidelines

PubMed

Clark SK
Surgeon 2019 Jun;17(3):165-171. Epub 2019 Mar 29 doi: 10.1016/j.surge.2019.03.003. PMID: 30935877
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
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Recent clinical studies

Etiology

Biller LH, Creedon SA, Klehm M, Yurgelun MB
Gastrointest Endosc Clin N Am 2022 Jan;32(1):75-93. doi: 10.1016/j.giec.2021.08.002. PMID: 34798988
Maratt JK, Stoffel E
Gastrointest Endosc Clin N Am 2022 Jan;32(1):45-58. doi: 10.1016/j.giec.2021.09.002. PMID: 34798986
Biller LH, Syngal S, Yurgelun MB
Fam Cancer 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1. PMID: 30627969Free PMC Article
Yurgelun MB, Hampel H
Am Soc Clin Oncol Educ Book 2018 May 23;38:101-109. doi: 10.1200/EDBK_208341. PMID: 30231390
Barrow E, Hill J, Evans DG
Fam Cancer 2013 Jun;12(2):229-40. doi: 10.1007/s10689-013-9615-1. PMID: 23604856

Diagnosis

Hampel H, Kalady MF, Pearlman R, Stanich PP
Hematol Oncol Clin North Am 2022 Jun;36(3):429-447. Epub 2022 May 13 doi: 10.1016/j.hoc.2022.02.002. PMID: 35577708
Biller LH, Syngal S, Yurgelun MB
Fam Cancer 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1. PMID: 30627969Free PMC Article
Yurgelun MB, Hampel H
Am Soc Clin Oncol Educ Book 2018 May 23;38:101-109. doi: 10.1200/EDBK_208341. PMID: 30231390
Sinicrope FA
N Engl J Med 2018 Aug 23;379(8):764-773. doi: 10.1056/NEJMcp1714533. PMID: 30134129
Lynch HT, de la Chapelle A
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Therapy

Bowen CM, Deng N, Reyes-Uribe L, Parra ER, Rocha P, Solis LM, Wistuba II, Sepeda VO, Vornik L, Perloff M, Szabo E, Umar A, Sinha KM, Brown PH, Vilar E
Front Immunol 2023;14:1162669. Epub 2023 May 3 doi: 10.3389/fimmu.2023.1162669. PMID: 37207208Free PMC Article
Biller LH, Syngal S, Yurgelun MB
Fam Cancer 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1. PMID: 30627969Free PMC Article
Kampmeyer C, Nielsen SV, Clausen L, Stein A, Gerdes AM, Lindorff-Larsen K, Hartmann-Petersen R
Genes Chromosomes Cancer 2017 Dec;56(12):823-831. Epub 2017 Sep 6 doi: 10.1002/gcc.22487. PMID: 28779490
Ricciardiello L, Ahnen DJ, Lynch PM
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Kwon JS
J Gynecol Oncol 2015 Jul;26(3):227-31. doi: 10.3802/jgo.2015.26.3.227. PMID: 26197859Free PMC Article

Prognosis

Maratt JK, Stoffel E
Gastrointest Endosc Clin N Am 2022 Jan;32(1):45-58. doi: 10.1016/j.giec.2021.09.002. PMID: 34798986
Bateman AC
J Clin Pathol 2021 Apr;74(4):264-268. Epub 2021 Feb 17 doi: 10.1136/jclinpath-2020-207281. PMID: 33597222
Tanakaya K
Int J Clin Oncol 2019 Sep;24(9):1013-1019. Epub 2018 May 9 doi: 10.1007/s10147-018-1282-7. PMID: 29744602
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886
Gallion HH, Smith SA
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Clinical prediction guides

Maratt JK, Stoffel E
Gastrointest Endosc Clin N Am 2022 Jan;32(1):45-58. doi: 10.1016/j.giec.2021.09.002. PMID: 34798986
Wang Q, Leclerc J, Bougeard G, Olschwang S, Vasseur S, Cassinari K, Boidin D, Lefol C, Naïbo P, Frébourg T, Buisine MP, Baert-Desurmont S; French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (GGC)
J Med Genet 2020 Jul;57(7):487-499. Epub 2020 Jan 28 doi: 10.1136/jmedgenet-2019-106256. PMID: 31992580
Svrcek M, Lascols O, Cohen R, Collura A, Jonchère V, Fléjou JF, Buhard O, Duval A
Bull Cancer 2019 Feb;106(2):119-128. Epub 2019 Feb 1 doi: 10.1016/j.bulcan.2018.12.008. PMID: 30713006
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD)
J Med Genet 2014 Jun;51(6):355-65. Epub 2014 Apr 15 doi: 10.1136/jmedgenet-2014-102284. PMID: 24737826
Jasperson KW, Tuohy TM, Neklason DW, Burt RW
Gastroenterology 2010 Jun;138(6):2044-58. doi: 10.1053/j.gastro.2010.01.054. PMID: 20420945Free PMC Article

Recent systematic reviews

Poumeaud F, Valentin T, Vande Perre P, Jaffrelot M, Bonnet D, Chibon F, Chevreau C, Selves J, Guimbaud R, Fares N
Crit Rev Oncol Hematol 2023 Aug;188:104055. Epub 2023 Jun 8 doi: 10.1016/j.critrevonc.2023.104055. PMID: 37301271
Rasmussen M, Madsen MG, Therkildsen C
Urology 2022 Jul;165:44-53. Epub 2022 Feb 22 doi: 10.1016/j.urology.2022.02.006. PMID: 35217028
Helder-Woolderink JM, Blok EA, Vasen HF, Hollema H, Mourits MJ, De Bock GH
Eur J Cancer 2016 Mar;55:65-73. Epub 2016 Jan 13 doi: 10.1016/j.ejca.2015.12.005. PMID: 26773421
Ryan S, Jenkins MA, Win AK
Cancer Epidemiol Biomarkers Prev 2014 Mar;23(3):437-49. Epub 2014 Jan 14 doi: 10.1158/1055-9965.EPI-13-1165. PMID: 24425144
Win AK, Lindor NM, Jenkins MA
Breast Cancer Res 2013 Mar 19;15(2):R27. doi: 10.1186/bcr3405. PMID: 23510156Free PMC Article

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