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Table 2 Detection of microsatellite instability

From: A Chinese family affected by lynch syndrome caused by MLH1 mutation

Patient Proband III7 Proband’s Sister III5 Proband’s Brother III6
MSI status MSI-H MSI-H MSI-H
Genetic testing for microsatellite instability BAT-25 MSI MSI MSI
BAT-26 MSS MSI MSI
NR-21 MSI MSI MSI
NR-24 MSI MSI MSI
Mono-27 MSS MSI MSI
Immunohistochemistry of MMR proteins MLH1
MSH2 + +
MSH6 + +
PMS2 +
  1. Microsatellite instability was accessed at both protein and genetic levels. Immunohistochemistry of MMR proteins (MLH1, MSH2, MSH6 and PMS2) was performed to demonstrate the deficiency of MMR system in affected individuals. “-” suggests the deficiency of corresponding proteins and “+” suggests a normal expression of corresponding proteins. Deficiency in MMRs results in MSI
  2. Genetic screening for MSI was performed using the BAT-25, BAT-26, NR-21, NR-25, and Mono-27 markers. MSS microsatellite stable, MSI microsatellite instability, when none of the five markers showed instability. MSI-H MSI-high, when two or more of the five markers showed instability. MSI-L MSI-low, when only one of the five markers showed instability