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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

Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu JT
Nat Med 2020 Aug;26(8):1235-1239. Epub 2020 Jul 27 doi: 10.1038/s41591-020-0982-5. PMID: 32719484
Yurgelun MB, Hampel H
Am Soc Clin Oncol Educ Book 2018 May 23;38:101-109. doi: 10.1200/EDBK_208341. PMID: 30231390
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article

Recent clinical studies

Etiology

Hornbuckle K, Fritz CDL
JAMA 2024 Jul 9;332(2):178. doi: 10.1001/jama.2024.8552. PMID: 38823004
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
Brosens LA, Offerhaus GJ, Giardiello FM
Surg Clin North Am 2015 Oct;95(5):1067-80. Epub 2015 Jun 16 doi: 10.1016/j.suc.2015.05.004. PMID: 26315524Free PMC Article

Diagnosis

Peltomäki P, Nyström M, Mecklin JP, Seppälä TT
Gastroenterology 2023 Apr;164(5):783-799. Epub 2023 Jan 24 doi: 10.1053/j.gastro.2022.08.058. PMID: 36706841
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
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
N Engl J Med 2003 Mar 6;348(10):919-32. doi: 10.1056/NEJMra012242. PMID: 12621137

Therapy

Roudko V, Cimen Bozkus C, Greenbaum B, Lucas A, Samstein R, Bhardwaj N
Front Immunol 2021;12:757804. Epub 2021 Sep 24 doi: 10.3389/fimmu.2021.757804. PMID: 34630437Free PMC Article
Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G; European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)
Br J Surg 2021 May 27;108(5):484-498. doi: 10.1002/bjs.11902. PMID: 34043773Free 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
Stadler ZK
Hematol Oncol Clin North Am 2015 Feb;29(1):29-41. doi: 10.1016/j.hoc.2014.09.008. PMID: 25475571
Aparicio T, Zaanan A, Svrcek M, Laurent-Puig P, Carrere N, Manfredi S, Locher C, Afchain P
Dig Liver Dis 2014 Feb;46(2):97-104. Epub 2013 Jun 21 doi: 10.1016/j.dld.2013.04.013. PMID: 23796552

Prognosis

Rüschoff J, Schildhaus HU, Rüschoff JH, Jöhrens K, Bocker Edmonston T, Dietmaier W, Bläker H, Baretton G, Horst D, Dietel M, Hartmann A, Klauschen F, Merkelbach-Bruse S, Stenzinger A, Schöniger S, Tiemann M, Weichert W, Büttner R
Pathologie (Heidelb) 2023 Nov;44(Suppl 2):61-70. Epub 2023 Oct 24 doi: 10.1007/s00292-023-01208-2. PMID: 37874379Free PMC Article
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
Stadler ZK
Hematol Oncol Clin North Am 2015 Feb;29(1):29-41. doi: 10.1016/j.hoc.2014.09.008. PMID: 25475571
Lindor NM
Am Soc Clin Oncol Educ Book 2014:27-32. doi: 10.14694/EdBook_AM.2014.34.27. PMID: 24857057

Clinical prediction guides

Rüschoff J, Schildhaus HU, Rüschoff JH, Jöhrens K, Bocker Edmonston T, Dietmaier W, Bläker H, Baretton G, Horst D, Dietel M, Hartmann A, Klauschen F, Merkelbach-Bruse S, Stenzinger A, Schöniger S, Tiemann M, Weichert W, Büttner R
Pathologie (Heidelb) 2023 Nov;44(Suppl 2):61-70. Epub 2023 Oct 24 doi: 10.1007/s00292-023-01208-2. PMID: 37874379Free PMC Article
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
Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S
Gastroenterology 2015 Sep;149(3):604-13.e20. Epub 2015 May 14 doi: 10.1053/j.gastro.2015.05.006. PMID: 25980754Free PMC Article
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

Mitric C, Salman L, Abrahamyan L, Kim SR, Pechlivanoglou P, Chan KKW, Gien LT, Ferguson SE
Gynecol Oncol 2023 Mar;170:133-142. Epub 2023 Jan 20 doi: 10.1016/j.ygyno.2022.12.008. PMID: 36682091
Abu-Ghazaleh N, Kaushik V, Gorelik A, Jenkins M, Macrae F
Genet Med 2022 May;24(5):971-985. Epub 2022 Feb 15 doi: 10.1016/j.gim.2022.01.014. PMID: 35177335
Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G; European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)
Br J Surg 2021 May 27;108(5):484-498. doi: 10.1002/bjs.11902. PMID: 34043773Free PMC Article
Heneghan HM, Martin ST, Winter DC
Colorectal Dis 2015 May;17(5):382-9. doi: 10.1111/codi.12868. PMID: 25510173
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

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