Acta Scientific Cancer Biology (ASCB)

Review Article Volume 4 Issue 7

Role of DNA Mismatch Repair in Cancer

Ganguli D*

Department of Biochemistry, Indian Institute of Science, India

*Corresponding Author: Ganguli D, Department of Biochemistry, Indian Institute of Science, India.

Received: April 08, 2020; Published: June 03, 2020



 DNA mismatch repair (MMR) specifically recognizes and removes mismatched base pairs and small insertion-deletion loops (IDLs) from the genome thereby maintaining the genomic integrity. Deficiency or complete loss of MMR in human leads to different kinds of cancer. The most common cancer associated with MMR deficiency is Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch syndrome. In addition to this, MMR deficiency has been found to be correlated with other types of cancer, as well. Loss of MMR functions increases the frameshift mutations in different tumor suppressor genes leading to cancer in a tissue dependent manner. In this review, the role of MMR in the development and prognosis of different types of cancer has been discussed. .

Keywords: DNA Mismatch Repair (MMR); Hereditary Nonpolyposis Colorectal Cancer (HNPCC)



  1. Iyer Ravi R., et al. "DNA mismatch repair: functions and mechanisms”. Chemical Reviews2 (2006): 302-323.
  2. Jacob Sandrine and Françoise Praz. "DNA mismatch repair defects: role in colorectal carcinogenesis”. Biochimie 1 (2002): 27-47.
  3. Chang Dong Kyung., et al. "Steady-state regulation of the human DNA mismatch repair system”. Journal of Biological Chemistry 24 (2000): 18424-18431.
  4. Kolodner Richard D and Gerald T Marsischky. "Eukaryotic DNA mismatch repair”. Current Opinion in Genetics and Development1 (1999): 89-96.
  5. Jeong Cherlhyun., et al. "MutS switches between two fundamentally distinct clamps during mismatch repair”. Nature Structural and Molecular Biology3 (2011): 379.
  6. Hsieh Peggy and Yongliang Zhang. "The Devil is in the details for DNA mismatch repair”. Proceedings of the National Academy of Sciences14 (2017): 3552-3554.
  7. Umar Asad., et al. "Requirement for PCNA in DNA mismatch repair at a step preceding DNA resynthesis”. Cell1 (1996): 65-73.
  8. Lynch Henry T and Albert De la Chapelle. "Genetic susceptibility to non-polyposis colorectal cancer”. Journal of Medical Genetics11 (1999): 801-818.
  9. Kopciuk Karen A., et al. "Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models”. Hereditary Cancer in Clinical Practice 1 (2009): 16.
  10. Lynch Henry T., et al. "Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome)”. International Journal of Cancer1 (1996): 38-43.
  11. Umar Asad. "Lynch syndrome (HNPCC) and microsatellite instability”. Disease Markers4-5 (2004): 179-180.
  12. Peltomäki Päivi and Hans Vasen. "Mutations associated with HNPCC predisposition-update of ICG-HNPCC/INSiGHT mutation database”. Disease Markers 4-5 (2004): 269-276.
  13. Rajender Singh., et al. "R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer (HNPCC) in an Indian extended family”. Indian Journal of Medical Research1 (2010): 64.
  14. Rajkumar Thangarajan., et al. "Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India”. Genetic Testing2 (2004): 157-162.
  15. Kong Shouming., et al. "Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer”. Cancer Research2 (2000): 249-252.
  16. Heinimann Karl., et al. "N-acetyltransferase 2 influences cancer prevalence in hMLH1/hMSH2 mutation carriers”. Cancer Research13 (1999): 3038-3040.
  17. Rüschoff Josef., et al. "Aspirin suppresses the mutator phenotype associated with hereditary nonpolyposis colorectal cancer by genetic selection”. Proceedings of the National Academy of Sciences 19 (1998): 11301-11306.
  18. Hickman Mark J and Leona D Samson. "Role of DNA mismatch repair and p53 in signaling induction of apoptosis by alkylating agents”. Proceedings of the National Academy of Sciences19 (1999): 10764-10769.
  19. Liu Angen., et al. "The mismatch repair‐mediated cell cycle checkpoint response to fluorodeoxyuridine”. Journal of Cellular Biochemistry1 (2008): 245-254.
  20. Xinarianos George., et al. "hMLH1 and hMSH2 expression correlates with allelic imbalance on chromosome 3p in non-small cell lung carcinomas”. Cancer Research15 (2000): 4216-4221.
  21. Wang Yi-Ching., et al. "Inactivation of hMLH1 and hMSH2 by promoter methylation in primary non-small cell lung tumors and matched sputum samples”. The Journal of Clinical Investigation6 (2003): 887-895.
  22. Downey Charlene M and Frank R Jirik. "DNA mismatch repair deficiency accelerates lung neoplasm development in K‐rasLA1/+ mice: a brief report”. Cancer Medicine6 (2015): 897-902.
  23. Nogueira Guilherme Augusto Silva., et al. "Association between genetic polymorphisms in DNA mismatch repair‐related genes with risk and prognosis of head and neck squamous cell carcinoma”. International Journal of Cancer4 (2015): 810-818.
  24. Kuismanen Shannon A., et al. "Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers”. The American Journal of Pathology5 (2000): 1773-1779.
  25. Veigl Martina L., et al. "Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers”. Proceedings of the National Academy of Sciences15 (1998): 8698-8702.
  26. Peltomäki Päivi. "Deficient DNA mismatch repair: a common etiologic factor for colon cancer”. Human Molecular Genetics7 (2001): 735-740.


Citation: Ganguli D. “Role of DNA Mismatch Repair in Cancer”.Acta Scientific Cancer Biology 4.7 (2020): 09-12.


Acceptance rate35%
Acceptance to publication20-30 days
Impact Factor1.183

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