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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
See: Feature record | Search on this feature

Professional guidelines

PubMed

Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus.
McVeigh TP, Monahan KJ, Christopher J, West N, Scott M, Murray J, Hanson H; UKCGG dMMR Consensus Meeting Attendees
J Med Genet 2024 Jun 20;61(7):707-715. doi: 10.1136/jmg-2024-109886. PMID: 38531626Free PMC Article
Different surgical outcome and follow-up status between dMMR and pMMR colorectal cancer patients who fulfilled with Amsterdam-II criteria.
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
Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome.
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

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

Clinicopathological characteristics of Lynch-like syndrome.
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
Mismatch Repair Deficiency and Lynch Syndrome Among Adult Patients With Glioma.
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
The identification of Lynch syndrome in Congolese colorectal cancer patients.
Poaty H, Aba Gandzion C, Soubeyran I, Gassaye D, Peko JF, Nkoua Bon JB, Gombé Mbalawa C
Bull Cancer 2017 Oct;104(10):831-839. Epub 2017 Oct 6 doi: 10.1016/j.bulcan.2017.08.005. PMID: 28988047
The novel germline mutation of hMSH2 gene in a case of a colon cancer patient without family history.
Ishida H, Furukawa H, Tatsuta M, Masutani S, Imamura H, Shimizu J, Masuda N, Kawasaki T, Satomi T, Sugano K, Fukayama N, Tomita N
Jpn J Clin Oncol 2002 Jul;32(7):266-9. doi: 10.1093/jjco/hyf053. PMID: 12324578
Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis.
Morton DG, Gibson J, Macdonald F, Brown R, Haydon J, Cullen R, Rindl M, Hulten M, Neoptolemos JP, Keighley MR
Br J Surg 1992 Jul;79(7):689-93. doi: 10.1002/bjs.1800790733. PMID: 1322757

Diagnosis

Clinicopathological characteristics of Lynch-like syndrome.
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
Testing for deficient mismatch repair and microsatellite instability : A focused update.
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
Mismatch Repair Deficiency and Lynch Syndrome Among Adult Patients With Glioma.
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
Ovarian cancer in Lynch syndrome; a systematic review.
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
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.
van der Klift HM, Tops CM, Hes FJ, Devilee P, Wijnen JT
Hum Mutat 2012 Jul;33(7):1051-5. Epub 2012 Apr 30 doi: 10.1002/humu.22092. PMID: 22461402

Therapy

GPs' willingness to prescribe aspirin for cancer preventive therapy in Lynch syndrome: a factorial randomised trial investigating factors influencing decisions.
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
Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.
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
Prevalence estimation of microsatellite instability in colorectal cancers using tissue microarray based methods - A tertiary care center experience.
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
A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome.
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
Microsatellite instability and frameshift mutations in the Bax gene in hereditary nonpolyposis colorectal carcinoma.
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

Testing for deficient mismatch repair and microsatellite instability : A focused update.
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
Impact of colonoscopic screening in Familial Colorectal Cancer Type X.
Hatfield E, Green JS, Woods MO, Warden G, Parfrey PS
Mol Genet Genomic Med 2018 Nov;6(6):1021-1030. Epub 2018 Oct 9 doi: 10.1002/mgg3.478. PMID: 30300963Free PMC Article
Ovarian cancer in Lynch syndrome; a systematic review.
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
Mismatch repair and the hereditary non-polyposis colorectal cancer syndrome (HNPCC).
Müller A, Fishel R
Cancer Invest 2002;20(1):102-9. doi: 10.1081/cnv-120000371. PMID: 11852992
Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis.
Morton DG, Gibson J, Macdonald F, Brown R, Haydon J, Cullen R, Rindl M, Hulten M, Neoptolemos JP, Keighley MR
Br J Surg 1992 Jul;79(7):689-93. doi: 10.1002/bjs.1800790733. PMID: 1322757

Clinical prediction guides

Clinicopathological characteristics of Lynch-like syndrome.
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
Testing for deficient mismatch repair and microsatellite instability : A focused update.
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
Frequency and clinical features of deficient mismatch repair in ovarian clear cell and endometrioid carcinoma.
Tanaka T, Takehara K, Yamashita N, Okazawa-Sakai M, Kuraoka K, Teramoto N, Taguchi K, Yamashiro K, Kato H, Mizunoe T, Suzuki R, Yamamoto D, Ueki A, Saito T
J Gynecol Oncol 2022 Sep;33(5):e67. doi: 10.3802/jgo.2022.33.e67. PMID: 36032025Free PMC Article
Ovarian cancer in Lynch syndrome; a systematic review.
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
Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis.
Morton DG, Gibson J, Macdonald F, Brown R, Haydon J, Cullen R, Rindl M, Hulten M, Neoptolemos JP, Keighley MR
Br J Surg 1992 Jul;79(7):689-93. doi: 10.1002/bjs.1800790733. PMID: 1322757

Recent systematic reviews

Primary and Secondary Prevention Interventions to Reduce Risk Factors Associated with Colorectal Cancer in High-Risk Groups: a Systematic Literature Review.
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
Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.
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
Risk-reduction surgery in pediatric surgical oncology: A perspective.
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
Ovarian cancer in Lynch syndrome; a systematic review.
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

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    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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