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 | – | – | + |