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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): Gene(s) directly associated with this condition or phenotype.	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

Abnormality of the digestive system
- Hereditary nonpolyposis colorectal carcinoma

Professional guidelines

PubMed

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: 32767993 Free 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: 21567236 Free PMC Article

Phenotypic characteristics of hereditary non-polyposis colorectal cancer by the Amsterdam criteria: an Asian perspective.

Chew MH, Koh PK, Ng KH, Lim JF, Ho KS, Ooi BS, Tang CL, Eu KW
ANZ J Surg 2008 Jul;78(7):556-60. doi: 10.1111/j.1445-2197.2008.04570.x. PMID: 18593409

See all (9)

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

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: 30300963 Free PMC Article

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

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

See all (97)

Diagnosis

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: 37874379 Free 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: 30300963 Free PMC Article

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

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

See all (85)

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: 36997217 Free 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: 20878717 Free 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: 9849580 Free PMC Article

See all (5)

Prognosis

Testing for deficient mismatch repair and microsatellite instability : A focused update.

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: 30300963 Free PMC Article

EGFR, SMAD7, and TGFBR2 Polymorphisms Are Associated with Colorectal Cancer in Patients with Lynch Syndrome.

Kamiza AB, Wang WC, You JF, Tang R, Wang YT, Chien HT, Lai CH, Chiu LL, Lo TP, Hung KY, Hsiung CA, Yeh CC
Anticancer Res 2018 Oct;38(10):5983-5990. doi: 10.21873/anticanres.12946. PMID: 30275229

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

See all (46)

Clinical prediction guides

Clinicopathological characteristics of Lynch-like syndrome.

Testing for deficient mismatch repair and microsatellite instability : A focused update.

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: 30300963 Free 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 defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

Jensen UB, Sunde L, Timshel S, Halvarsson B, Nissen A, Bernstein I, Nilbert M
Breast Cancer Res Treat 2010 Apr;120(3):777-82. Epub 2009 Jul 3 doi: 10.1007/s10549-009-0449-3. PMID: 19575290

See all (52)

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.

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

See all (4)

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Colorectal cancer, hereditary nonpolyposis, type 7(HNPCC7)

Definition

Clinical features

Professional guidelines

PubMed

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

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Curated

Molecular resources

Consumer resources

Reviews

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