Defective mismatch repair, microsatellite mutation bias, and variability in clinical cancer phenotypes

Sandeep N. Shah, Suzanne E. Hile, Kristin A. Eckert

Research output: Contribution to journalReview articlepeer-review

91 Scopus citations


Microsatellite instability is associated with 10% to 15% of colorectal, endometrial, ovarian, and gastric cancers, and has long been used as a diagnostic tool for hereditary nonpolyposis colorectal carcinoma-related cancers. Tumor-specific length alterations within microsatellites are generally accepted to be a consequence of strand slippage events during DNA replication, which are uncorrected due to a defective postreplication mismatch repair (MMR) system. Mutations arising within microsatellites associated with critical target genes are believed to play a causative role in the evolution of MMR-defective tumors. In this review, we summarize current evidence of mutational biases within microsatellites arising as a consequence of intrinsic DNA sequence effects as well as variation in MMR efficiency. Microsatellite mutational biases are generally not considered during clinical testing; however, we suggest that such biases may be clinically significant as a factor contributing to phenotypic variation among microsatellite instability-positive tumors.

Original languageEnglish (US)
Pages (from-to)431-435
Number of pages5
JournalCancer Research
Issue number2
StatePublished - Jan 15 2010

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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