Microsatellite and immunohistochemical analysis in tumours from 12 affected relatives
| Subject | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| III.2 | III.4 | III.13 | III.18 | IV.4 | IV.6 | IV.13 | IV.15 | IV.26 | IV.27 | IV.30 | IV.32 | |||||
| Tumour type | U | U | U | C | C | U | U | P | R | E | C | B | E | E | O | E |
| Microsatellite status | H | H | L | NT | H | H | L | S | H | L | S | H | H | L | H | S |
| Mononucleotide markers | ||||||||||||||||
| BAT253-150 | + | + | + | NT | + | + | − | − | + | − | − | + | + | − | + | − |
| BAT263-150 | NT | + | − | NT | + | + | + | − | + | + | − | + | + | + | + | − |
| BAT40 | + | + | + | NT | + | + | +/− | − | + | + | + | + | NT | + | + | + |
| Dinucleotide markers | ||||||||||||||||
| D2S1233-150 | + | NT | − | NT | − | − | NT | − | − | − | − | − | − | − | − | − |
| D5S3463-150 | − | + | − | NT | + | − | − | − | + | − | − | − | − | − | − | − |
| D17S2503-150 | + | NT | − | NT | + | − | − | − | + | − | − | − | − | − | − | − |
| Immunohistochemistry | ||||||||||||||||
| MLH1 | NT | NT | + | ++ | + | + | NT | + | + | ++ | + | + | + | + | ++ | +++ |
| MSH2 | NT | NT | + | ++ | ++ | + | NT | + | − | + | + | + | ++ | + | + | ++ |
| MSH6 | NT | NT | − | + | − | − | NT | + | − | − | − | − | − | − | NT | − |
↵3-150 = markers recommended by NCI for MSI analysis.16+ = Unstable. − = Stable. NT = not tested/not conclusive. H = MSI high according to NCI recommendations.16 L = MSI low according to NCI recommendations.16 S = MSI stable according to NCI recommendations.16 C = colon tumour. U = urinary tract tumour. E = endometrial tumour. O = ovarian tumour. R = rectal tumour. P = polyp. B = breast tumour.
Immunohistochemistry: +++ = strong staining, ++ = moderate staining, + = weak staining, − = no staining.