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Colorectal cancer, hereditary nonpolyposis, type 7(HNPCC7)

MedGen UID:
346893
Concept ID:
C1858380
Neoplastic Process
Synonyms: Colorectal Cancer, Hereditary Nonpolyposis, Type 7; HNPCC7
 
Gene (location): MLH3 (14q24.3)
 
Monarch Initiative: MONDO:0013725
OMIM®: 614385

Definition

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene. [from MONDO]

Clinical features

From HPO
Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
870541
Concept ID:
C4024989
Neoplastic Process

Professional guidelines

PubMed

Sun CY, Chiang JM, Chen TC, Hung HY, You JF
World J Surg Oncol 2020 Aug 7;18(1):195. doi: 10.1186/s12957-020-01976-8. PMID: 32767993Free PMC Article
Dewanwala A, Chittenden A, Rosenblatt M, Mercado R, Garber JE, Syngal S, Stoffel EM
Fam Cancer 2011 Sep;10(3):549-56. doi: 10.1007/s10689-011-9448-8. PMID: 21567236Free PMC Article
Boonstra PS, Gruber SB, Raymond VM, Huang SC, Timshel S, Nilbert M, Mukherjee B
Genet Epidemiol 2010 Nov;34(7):756-68. doi: 10.1002/gepi.20534. PMID: 20878717Free PMC Article

Curated

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019

Recent clinical studies

Etiology

Benusiglio PR, Elder F, Touat M, Perrier A, Sanson M, Colas C, Guerrini-Rousseau L, Tran DT, Trabelsi N, Carpentier C, Marie Y, Adam C, Bernier M, Cazals-Hatem D, Mokhtari K, Tran S, Mathon B, Capelle L, Dhooge M, Idbaih A, Alentorn A, Houillier C, Dehais C, Hoang-Xuan K, Cuzzubbo S, Carpentier A, Duval A, Coulet F, Bielle F
JCO Precis Oncol 2023 May;7:e2200525. doi: 10.1200/PO.22.00525. PMID: 37262394
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
Warrier SK, Yeung JM, Lynch AC, Heriot AG
World J Surg 2014 Jul;38(7):1827-33. doi: 10.1007/s00268-014-2470-x. PMID: 24510247
Francisco I, Albuquerque C, Lage P, Belo H, Vitoriano I, Filipe B, Claro I, Ferreira S, Rodrigues P, Chaves P, Leitão CN, Pereira AD
Fam Cancer 2011 Dec;10(4):623-31. doi: 10.1007/s10689-011-9473-7. PMID: 21837511
Müller A, Fishel R
Cancer Invest 2002;20(1):102-9. doi: 10.1081/cnv-120000371. PMID: 11852992

Diagnosis

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
Benusiglio PR, Elder F, Touat M, Perrier A, Sanson M, Colas C, Guerrini-Rousseau L, Tran DT, Trabelsi N, Carpentier C, Marie Y, Adam C, Bernier M, Cazals-Hatem D, Mokhtari K, Tran S, Mathon B, Capelle L, Dhooge M, Idbaih A, Alentorn A, Houillier C, Dehais C, Hoang-Xuan K, Cuzzubbo S, Carpentier A, Duval A, Coulet F, Bielle F
JCO Precis Oncol 2023 May;7:e2200525. doi: 10.1200/PO.22.00525. PMID: 37262394
Johnatty SE, Tan YY, Buchanan DD, Bowman M, Walters RJ, Obermair A, Quinn MA, Blomfield PB, Brand A, Leung Y, Oehler MK; ANECS Group, Kirk JA, O'Mara TA, Webb PM, Spurdle AB
Gynecol Oncol 2017 Nov;147(2):381-387. Epub 2017 Aug 17 doi: 10.1016/j.ygyno.2017.08.011. PMID: 28822557
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
Müller A, Fishel R
Cancer Invest 2002;20(1):102-9. doi: 10.1081/cnv-120000371. PMID: 11852992

Therapy

Lloyd KE, Hall LH, Ziegler L, Foy R, Borthwick GM, MacKenzie M, Taylor DG, Smith SG; Aspirin for Cancer Prevention group
Br J Gen Pract 2023 Apr;73(729):e302-e309. Epub 2023 Mar 30 doi: 10.3399/BJGP.2021.0610. PMID: 36997217Free PMC Article
Eikenboom EL, van der Werf-'t Lam AS, Rodríguez-Girondo M, Van Asperen CJ, Dinjens WNM, Hofstra RMW, Van Leerdam ME, Morreau H, Spaander MCW, Wagner A, Nielsen M
Clin Gastroenterol Hepatol 2022 Mar;20(3):e496-e507. Epub 2021 Apr 19 doi: 10.1016/j.cgh.2021.04.021. PMID: 33887476
Nayak SS, Roy P, Arora N, Arun I, Roy MK, Banerjee S, Mallick I, Mallath MK
Indian J Pathol Microbiol 2018 Oct-Dec;61(4):520-525. doi: 10.4103/IJPM.IJPM_430_17. PMID: 30303141
Boonstra PS, Gruber SB, Raymond VM, Huang SC, Timshel S, Nilbert M, Mukherjee B
Genet Epidemiol 2010 Nov;34(7):756-68. doi: 10.1002/gepi.20534. PMID: 20878717Free PMC Article
Sakao Y, Noro M, Sekine S, Nozue M, Hirohashi S, Itoh T, Noguchi M
Jpn J Cancer Res 1998 Oct;89(10):1020-7. doi: 10.1111/j.1349-7006.1998.tb00491.x. PMID: 9849580Free PMC Article

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
Johnatty SE, Tan YY, Buchanan DD, Bowman M, Walters RJ, Obermair A, Quinn MA, Blomfield PB, Brand A, Leung Y, Oehler MK; ANECS Group, Kirk JA, O'Mara TA, Webb PM, Spurdle AB
Gynecol Oncol 2017 Nov;147(2):381-387. Epub 2017 Aug 17 doi: 10.1016/j.ygyno.2017.08.011. PMID: 28822557
Adar T, Rodgers LH, Shannon KM, Yoshida M, Ma T, Mattia A, Lauwers GY, Iafrate AJ, Chung DC
Mod Pathol 2017 Mar;30(3):440-447. Epub 2017 Jan 6 doi: 10.1038/modpathol.2016.211. PMID: 28059100
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
Müller A, Fishel R
Cancer Invest 2002;20(1):102-9. doi: 10.1081/cnv-120000371. PMID: 11852992

Clinical prediction guides

Nakamori S, Takao M, Takao A, Natsume S, Iijima T, Kojika E, Nakano D, Kawai K, Inokuchi T, Fujimoto A, Urushibara M, Horiguchi SI, Ishida H, Yamaguchi T
Int J Clin Oncol 2024 Jul;29(7):944-952. Epub 2024 Apr 20 doi: 10.1007/s10147-024-02527-x. PMID: 38642190
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
Johnatty SE, Tan YY, Buchanan DD, Bowman M, Walters RJ, Obermair A, Quinn MA, Blomfield PB, Brand A, Leung Y, Oehler MK; ANECS Group, Kirk JA, O'Mara TA, Webb PM, Spurdle AB
Gynecol Oncol 2017 Nov;147(2):381-387. Epub 2017 Aug 17 doi: 10.1016/j.ygyno.2017.08.011. PMID: 28822557
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
Giunti L, Cetica V, Ricci U, Giglio S, Sardi I, Paglierani M, Andreucci E, Sanzo M, Forni M, Buccoliero AM, Genitori L, Genuardi M
Eur J Hum Genet 2009 Jul;17(7):919-27. Epub 2009 Jan 21 doi: 10.1038/ejhg.2008.271. PMID: 19156169Free PMC Article

Recent systematic reviews

Frieler M, Moore M, Longacre ML
J Cancer Educ 2023 Jun;38(3):738-751. Epub 2023 Feb 24 doi: 10.1007/s13187-023-02273-0. PMID: 36826735
Eikenboom EL, van der Werf-'t Lam AS, Rodríguez-Girondo M, Van Asperen CJ, Dinjens WNM, Hofstra RMW, Van Leerdam ME, Morreau H, Spaander MCW, Wagner A, Nielsen M
Clin Gastroenterol Hepatol 2022 Mar;20(3):e496-e507. Epub 2021 Apr 19 doi: 10.1016/j.cgh.2021.04.021. PMID: 33887476
Sandoval JA, Fernandez-Pineda I, Malkan AD
J Pediatr Surg 2016 Apr;51(4):675-87. Epub 2016 Feb 3 doi: 10.1016/j.jpedsurg.2016.01.004. PMID: 26898681
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

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2019
      American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019

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