Open Access

Deficient mismatch repair: Read all about it (Review)

  • Authors:
    • Susan Richman
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  • Published online on: August 12, 2015     https://doi.org/10.3892/ijo.2015.3119
  • Pages: 1189-1202
  • Copyright: © Richman et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Defects in the DNA mismatch repair (MMR) proteins, result in a phenotype called microsatellite instability (MSI), occurring in up to 15% of sporadic colorectal cancers. Approximately one quarter of colon cancers with deficient MMR (dMMR) develop as a result of an inherited predisposition syndrome, Lynch syndrome (formerly known as HNPCC). It is essential to identify patients who potentially have Lynch syndrome, as not only they, but also family members, may require screening and monitoring. Diagnostic criteria have been developed, based primarily on Western populations, and several methodologies are available to identify dMMR tumours, including immunohistochemistry and microsatellite testing. These criteria have provided evidence supporting the introduction of reflex testing. Yet, it is becoming increasingly clear that tests have a limited sensitivity and specificity and may yet be superseded by next generation sequencing. In this review, the limitations of diagnostic criteria are discussed, and current and emerging screening technologies explained. There is now useful evidence supporting the prognostic and predictive value of dMMR status in colorectal tumours, but much less is known about their value in extracolonic tumours, that may also feature in Lynch syndrome. This review assesses current literature relating to dMMR in endometrial, ovarian, gastric and melanoma cancers, which it would seem, may benefit from large-scale clinical trials in order to further close the gap in knowledge between colorectal and extracolonic tumours.
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October-2015
Volume 47 Issue 4

Print ISSN: 1019-6439
Online ISSN:1791-2423

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Spandidos Publications style
Richman S: Deficient mismatch repair: Read all about it (Review). Int J Oncol 47: 1189-1202, 2015
APA
Richman, S. (2015). Deficient mismatch repair: Read all about it (Review). International Journal of Oncology, 47, 1189-1202. https://doi.org/10.3892/ijo.2015.3119
MLA
Richman, S."Deficient mismatch repair: Read all about it (Review)". International Journal of Oncology 47.4 (2015): 1189-1202.
Chicago
Richman, S."Deficient mismatch repair: Read all about it (Review)". International Journal of Oncology 47, no. 4 (2015): 1189-1202. https://doi.org/10.3892/ijo.2015.3119