The resulting defect in DNA repair causes substantial variability in the length of known segments of repetitive DNA, a phenomenon called microsatellite instability
can be reliably detected by molecular testing, IHC techniques, and genetic testing developed during the past 2 decades.
Utility of immunohistochemistry in predicting microsatellite instability
in endometrial carcinoma.
Kirkner et al., "CpG island methylator phenotype, microsatellite instability
, BRAF mutation and clinical outcome in colon cancer," Gut, vol.
Table IV shows the frequency of demographic and histological features suggestive of microsatellite instability
(MSI) in the colorectal cancers.
Detection of DNA mismatch repair (MMR) deficiencies by immunohistochemistry can effectively diagnose the microsatellite instability
(MSI) phenotype in endometrial carcinomas.
MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability
in sporadic endometrial cancers.
Chan et al., "Microsatellite instability
and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer," Chinese Journal of Digestive Diseases, vol.
(MSI) is a key factor in several cancers including colorectal, endometrial, ovarian, and gastric cancers.
One study by Boyd et al (65) showed that microsatellite instability
(widespread mutations in microsatellite repeats) is detected in all DES-exposed and 50% of non-DES-exposed cases, while no mutations in KRAS, HRAS, WT1 (Wilms tumor 1), ER, or TP53 genes were found.
Shortcomings in MMR increase the rate of spontaneous mutations and microsatellite instability
(MSI) resulting in hereditary and sporadic cancers in human cells.
Previous studies have shown that CHD 9 has a certain mutation rate in high-level microsatellite instability
(MSI-H) CRC, but neither its role in CRC nor its effect on prognosis has yet been reported (5).