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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

Lynch syndrome; towards more personalized management?
Llach J, Pellisé M, Monahan K
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101790. Epub 2022 Mar 26 doi: 10.1016/j.bpg.2022.101790. PMID: 35988964
Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention.
Yurgelun MB, Hampel H
Am Soc Clin Oncol Educ Book 2018 May 23;38:101-109. doi: 10.1200/EDBK_208341. PMID: 30231390
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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

Lynch syndrome; towards more personalized management?
Llach J, Pellisé M, Monahan K
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101790. Epub 2022 Mar 26 doi: 10.1016/j.bpg.2022.101790. PMID: 35988964
Identification of Lynch Syndrome.
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
Recent advances in Lynch syndrome.
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
Colorectal Cancer in the Young.
Patel SG, Ahnen DJ
Curr Gastroenterol Rep 2018 Mar 28;20(4):15. doi: 10.1007/s11894-018-0618-9. PMID: 29616330
Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.
Kanth P, Grimmett J, Champine M, Burt R, Samadder NJ
Am J Gastroenterol 2017 Oct;112(10):1509-1525. Epub 2017 Aug 8 doi: 10.1038/ajg.2017.212. PMID: 28786406

Diagnosis

Hereditary Colorectal Cancer.
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
Recent advances in Lynch syndrome.
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
Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention.
Yurgelun MB, Hampel H
Am Soc Clin Oncol Educ Book 2018 May 23;38:101-109. doi: 10.1200/EDBK_208341. PMID: 30231390
Lynch Syndrome-Associated Colorectal Cancer.
Sinicrope FA
N Engl J Med 2018 Aug 23;379(8):764-773. doi: 10.1056/NEJMcp1714533. PMID: 30134129
Colorectal Cancer in the Young.
Patel SG, Ahnen DJ
Curr Gastroenterol Rep 2018 Mar 28;20(4):15. doi: 10.1007/s11894-018-0618-9. PMID: 29616330

Therapy

Lynch Syndrome and MSI-H Cancers: From Mechanisms to "Off-The-Shelf" Cancer Vaccines.
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
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin JP, Möslein G, McRonald FE, Bertario L, Evans DG, Gerdes AM, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppälä T, Thomas HJW, Pylvänäinen K, Borthwick GM, Mathers JC, Bishop DT; CAPP2 Investigators
Lancet 2020 Jun 13;395(10240):1855-1863. doi: 10.1016/S0140-6736(20)30366-4. PMID: 32534647Free PMC Article
Recent advances in Lynch syndrome.
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
Microsatellite instability in colorectal cancer: overview of its clinical significance and novel perspectives.
Battaglin F, Naseem M, Lenz HJ, Salem ME
Clin Adv Hematol Oncol 2018 Nov;16(11):735-745. PMID: 30543589Free PMC Article
Colorectal Cancer in the Young.
Patel SG, Ahnen DJ
Curr Gastroenterol Rep 2018 Mar 28;20(4):15. doi: 10.1007/s11894-018-0618-9. PMID: 29616330

Prognosis

Lynch syndrome; towards more personalized management?
Llach J, Pellisé M, Monahan K
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101790. Epub 2022 Mar 26 doi: 10.1016/j.bpg.2022.101790. PMID: 35988964
Identification of Lynch Syndrome.
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
The Transcriptomic Landscape of Mismatch Repair-Deficient Intestinal Stem Cells.
Bommi PV, Bowen CM, Reyes-Uribe L, Wu W, Katayama H, Rocha P, Parra ER, Francisco-Cruz A, Ozcan Z, Tosti E, Willis JA, Wu H, Taggart MW, Burks JK, Lynch PM, Edelmann W, Scheet PA, Wistuba II, Sinha KM, Hanash SM, Vilar E
Cancer Res 2021 May 15;81(10):2760-2773. Epub 2021 Mar 18 doi: 10.1158/0008-5472.CAN-20-2896. PMID: 34003775Free PMC Article
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin JP, Möslein G, McRonald FE, Bertario L, Evans DG, Gerdes AM, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppälä T, Thomas HJW, Pylvänäinen K, Borthwick GM, Mathers JC, Bishop DT; CAPP2 Investigators
Lancet 2020 Jun 13;395(10240):1855-1863. doi: 10.1016/S0140-6736(20)30366-4. PMID: 32534647Free PMC Article
Microsatellite instability in colorectal cancer: overview of its clinical significance and novel perspectives.
Battaglin F, Naseem M, Lenz HJ, Salem ME
Clin Adv Hematol Oncol 2018 Nov;16(11):735-745. PMID: 30543589Free PMC Article

Clinical prediction guides

Identification of Lynch Syndrome.
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
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, Yaeger R, Vijai J, Mukherjee S, Galle J, Dickson MA, Janjigian Y, O'Reilly EM, Segal N, Saltz LB, Reidy-Lagunes D, Varghese AM, Bajorin D, Carlo MI, Cadoo K, Walsh MF, Weiser M, Aguilar JG, Klimstra DS, Diaz LA Jr, Baselga J, Zhang L, Ladanyi M, Hyman DM, Solit DB, Robson ME, Taylor BS, Offit K, Berger MF, Stadler ZK
J Clin Oncol 2019 Feb 1;37(4):286-295. Epub 2018 Oct 30 doi: 10.1200/JCO.18.00283. PMID: 30376427Free PMC Article
Microsatellite instability in colorectal cancer: overview of its clinical significance and novel perspectives.
Battaglin F, Naseem M, Lenz HJ, Salem ME
Clin Adv Hematol Oncol 2018 Nov;16(11):735-745. PMID: 30543589Free PMC Article
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
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
Hereditary and familial colon cancer.
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

Mismatch-repair deficiency, microsatellite instability, and lynch syndrome in ovarian cancer: A systematic review and meta-analysis.
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
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.
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
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.
Nejadtaghi M, Jafari H, Farrokhi E, Samani KG
Curr Probl Cancer 2017 Nov-Dec;41(6):388-397. Epub 2017 Oct 18 doi: 10.1016/j.currproblcancer.2017.10.002. PMID: 29096939
Epidemiology, diagnosis, preoperative evaluation and prognostic assessment of upper-tract urothelial carcinoma (UTUC).
Soria F, Shariat SF, Lerner SP, Fritsche HM, Rink M, Kassouf W, Spiess PE, Lotan Y, Ye D, Fernández MI, Kikuchi E, Chade DC, Babjuk M, Grollman AP, Thalmann GN
World J Urol 2017 Mar;35(3):379-387. Epub 2016 Sep 7 doi: 10.1007/s00345-016-1928-x. PMID: 27604375
Segmental vs extended colectomy in the management of hereditary nonpolyposis colorectal cancer: a systematic review and meta-analysis.
Heneghan HM, Martin ST, Winter DC
Colorectal Dis 2015 May;17(5):382-9. doi: 10.1111/codi.12868. PMID: 25510173

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