Microsatellite instability (MSI) is the condition of genetic hypermutability that results from impaired DNA mismatch repair (MMR). The presence of MSI represents phenotypic evidence that MMR is not functioning normally. (https://en.wikipedia.org/wiki/Microsatellite_instability)

MMR 관련 단백질들이 complex를 만들어서 single base mismatches or short indels를 고친다. 이들이 고장나면 오류가 축적된다. 이것이 또 새로운 Microsatellite를 만든다.

MLH1 유전자 promoter의 hypermethylation 혹은 mutation과 관련되어 있다.

Colon cancer가 결과로 나타나기 쉽다.

관련정보

• Microsatellite Instability - Defective DNA Mismatch Repair: ESMO Biomarker Factsheet

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