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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

Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J; Hereditary CRC guidelines eDelphi consensus group
Gut 2020 Mar;69(3):411-444. Epub 2019 Nov 28 doi: 10.1136/gutjnl-2019-319915. PMID: 31780574Free 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
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

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
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
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
Backes FJ, Cohn DE
Clin Obstet Gynecol 2011 Jun;54(2):199-214. doi: 10.1097/GRF.0b013e3182185a41. PMID: 21508689

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
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

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
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
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
Wakeman C, Keenan J, Eteuati J, Hollington P, Eglinton T, Frizelle F
ANZ J Surg 2017 Dec;87(12):E228-E232. Epub 2015 Dec 21 doi: 10.1111/ans.13392. PMID: 26686322

Prognosis

Ogawa C, Hirasawa A, Ida N, Nakamura K, Masuyama H
J Obstet Gynaecol Res 2022 May;48(5):1076-1090. Epub 2022 Feb 28 doi: 10.1111/jog.15197. PMID: 35229413
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
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
Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group
Gut 2018 Jul;67(7):1306-1316. Epub 2017 Jul 28 doi: 10.1136/gutjnl-2017-314057. PMID: 28754778Free PMC Article
Wakeman C, Keenan J, Eteuati J, Hollington P, Eglinton T, Frizelle F
ANZ J Surg 2017 Dec;87(12):E228-E232. Epub 2015 Dec 21 doi: 10.1111/ans.13392. PMID: 26686322

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
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
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
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

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
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
Anele CC, Adegbola SO, Askari A, Rajendran A, Clark SK, Latchford A, Faiz OD
Colorectal Dis 2017 Jun;19(6):528-536. doi: 10.1111/codi.13679. PMID: 28407411
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
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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