Format

Send to:

Choose Destination

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

Recent clinical studies

Etiology

Chouhan H, Abbass MA, Hrabe JE, Ferrandon S, DeVecchio J, Mankaney G, Burke CA, Heald B, Ann LaGuardia L, O'Malley M, Milicia S, Liska D, Church J, Campbell SC, Kalady MF
Dis Colon Rectum 2022 Jan 1;65(1):40-45. doi: 10.1097/DCR.0000000000002062. PMID: 34882627
Salewski I, Henne J, Engster L, Schneider B, Lemcke H, Skorska A, Berlin P, Henze L, Junghanss C, Maletzki C
Int J Mol Sci 2021 Jun 1;22(11) doi: 10.3390/ijms22115990. PMID: 34206051Free PMC Article
Kastrinos F, Ingram MA, Silver ER, Oh A, Laszkowska M, Rustgi AK, Hur C
Gastroenterology 2021 Aug;161(2):453-462.e15. Epub 2021 Apr 9 doi: 10.1053/j.gastro.2021.04.010. PMID: 33839100
Ykema BLM, Nagtegaal ID, Kuhlmann K, van Berkel AM, van Leerdam ME; Dutch T1 CRC Working Group.
Virchows Arch 2021 Sep;479(3):451-457. Epub 2021 Mar 14 doi: 10.1007/s00428-021-03074-w. PMID: 33718978
Bateman AC
J Clin Pathol 2021 Apr;74(4):264-268. Epub 2021 Feb 17 doi: 10.1136/jclinpath-2020-207281. PMID: 33597222

Diagnosis

Chouhan H, Abbass MA, Hrabe JE, Ferrandon S, DeVecchio J, Mankaney G, Burke CA, Heald B, Ann LaGuardia L, O'Malley M, Milicia S, Liska D, Church J, Campbell SC, Kalady MF
Dis Colon Rectum 2022 Jan 1;65(1):40-45. doi: 10.1097/DCR.0000000000002062. PMID: 34882627
Kastrinos F, Ingram MA, Silver ER, Oh A, Laszkowska M, Rustgi AK, Hur C
Gastroenterology 2021 Aug;161(2):453-462.e15. Epub 2021 Apr 9 doi: 10.1053/j.gastro.2021.04.010. PMID: 33839100
Ykema BLM, Nagtegaal ID, Kuhlmann K, van Berkel AM, van Leerdam ME; Dutch T1 CRC Working Group.
Virchows Arch 2021 Sep;479(3):451-457. Epub 2021 Mar 14 doi: 10.1007/s00428-021-03074-w. PMID: 33718978
Loughrey MB, McGrath J, Coleman HG, Bankhead P, Maxwell P, McGready C, Bingham V, Humphries MP, Craig SG, McQuaid S, Salto-Tellez M, James JA
Histopathology 2021 Feb;78(3):401-413. Epub 2020 Oct 11 doi: 10.1111/his.14233. PMID: 32791559
Khorram MR, Goshayeshi L, Maghool F, Bergquist R, Ghaffarzadegan K, Eslami S, Khooei A, Hoseini B
J Gastrointest Cancer 2021 Mar;52(1):263-268. doi: 10.1007/s12029-020-00395-y. PMID: 32193764

Therapy

Xu Y, Li C, Zheng CZ, Zhang YQ, Guo TA, Liu FQ, Xu Y
BMC Cancer 2021 Jan 9;21(1):45. doi: 10.1186/s12885-020-07771-8. PMID: 33422027Free PMC Article
Ghidini M, Lampis A, Mirchev MB, Okuducu AF, Ratti M, Valeri N, Hahne JC
Genes (Basel) 2020 Dec 29;12(1) doi: 10.3390/genes12010033. PMID: 33383713Free PMC Article
Park D, Airi R, Sherman M
BMJ Case Rep 2020 Sep 23;13(9) doi: 10.1136/bcr-2020-235293. PMID: 32967944Free PMC Article
Kloor M, Reuschenbach M, Pauligk C, Karbach J, Rafiyan MR, Al-Batran SE, Tariverdian M, Jäger E, von Knebel Doeberitz M
Clin Cancer Res 2020 Sep 1;26(17):4503-4510. Epub 2020 Jun 15 doi: 10.1158/1078-0432.CCR-19-3517. PMID: 32540851
Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”.
Gastroenterology 2015 Oct;149(4):1017-29.e3. Epub 2015 Jun 25 doi: 10.1053/j.gastro.2015.06.013. PMID: 26116798

Prognosis

Kastrinos F, Ingram MA, Silver ER, Oh A, Laszkowska M, Rustgi AK, Hur C
Gastroenterology 2021 Aug;161(2):453-462.e15. Epub 2021 Apr 9 doi: 10.1053/j.gastro.2021.04.010. PMID: 33839100
Ykema BLM, Nagtegaal ID, Kuhlmann K, van Berkel AM, van Leerdam ME; Dutch T1 CRC Working Group.
Virchows Arch 2021 Sep;479(3):451-457. Epub 2021 Mar 14 doi: 10.1007/s00428-021-03074-w. PMID: 33718978
Bateman AC
J Clin Pathol 2021 Apr;74(4):264-268. Epub 2021 Feb 17 doi: 10.1136/jclinpath-2020-207281. PMID: 33597222
Loughrey MB, McGrath J, Coleman HG, Bankhead P, Maxwell P, McGready C, Bingham V, Humphries MP, Craig SG, McQuaid S, Salto-Tellez M, James JA
Histopathology 2021 Feb;78(3):401-413. Epub 2020 Oct 11 doi: 10.1111/his.14233. PMID: 32791559
Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”.
Gastroenterology 2015 Oct;149(4):1017-29.e3. Epub 2015 Jun 25 doi: 10.1053/j.gastro.2015.06.013. PMID: 26116798

Clinical prediction guides

Kastrinos F, Ingram MA, Silver ER, Oh A, Laszkowska M, Rustgi AK, Hur C
Gastroenterology 2021 Aug;161(2):453-462.e15. Epub 2021 Apr 9 doi: 10.1053/j.gastro.2021.04.010. PMID: 33839100
Ykema BLM, Nagtegaal ID, Kuhlmann K, van Berkel AM, van Leerdam ME; Dutch T1 CRC Working Group.
Virchows Arch 2021 Sep;479(3):451-457. Epub 2021 Mar 14 doi: 10.1007/s00428-021-03074-w. PMID: 33718978
Bateman AC
J Clin Pathol 2021 Apr;74(4):264-268. Epub 2021 Feb 17 doi: 10.1136/jclinpath-2020-207281. PMID: 33597222
Xu Y, Li C, Zheng CZ, Zhang YQ, Guo TA, Liu FQ, Xu Y
BMC Cancer 2021 Jan 9;21(1):45. doi: 10.1186/s12885-020-07771-8. PMID: 33422027Free PMC Article
Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”.
Gastroenterology 2015 Oct;149(4):1017-29.e3. Epub 2015 Jun 25 doi: 10.1053/j.gastro.2015.06.013. PMID: 26116798

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: 34043773
Stinton C, Fraser H, Al-Khudairy L, Court R, Jordan M, Grammatopoulos D, Taylor-Phillips S
Gynecol Oncol 2021 Jan;160(1):148-160. Epub 2020 Oct 24 doi: 10.1016/j.ygyno.2020.10.003. PMID: 33190932
Kunnackal John G, Das Villgran V, Caufield-Noll C, Giardiello F
Fam Cancer 2021 Apr;20(2):145-156. Epub 2020 Sep 11 doi: 10.1007/s10689-020-00206-0. PMID: 32914371
Menko FH, Ter Stege JA, van der Kolk LE, Jeanson KN, Schats W, Moha DA, Bleiker EMA
Fam Cancer 2019 Jan;18(1):127-135. doi: 10.1007/s10689-018-0089-z. PMID: 29846880
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

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center