DRUP-ID | Tumour type | Pre-enrolment based on | Baseline WGS | Baseline RNA | BOR | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
 |  | Confirmed Lynch (germline mutation) | IHC | Molecular analysis | WGS available | MSI | MMR mutations | B2M/JAK1/JAK2/STAT1 | TMB (mut/Mb) | RNA available |  |
1010121 | Endometrium | Â | MLH1/PMS2 loss | Â | Yes | No | Â | Â | 3.6 | No | PD |
1010122 | CRC | Â | MLH1/PMS2 loss | Â | Yes | Yes | Â | STAT1 p.R70C | 193.2 | Yes | PR |
1010123 | Small intestine | Yesa | MSH2/MSH6 loss | Â | Yes | Yes | MSH6;MSH2;MLH1 | STAT1 p.D674N | 274.7 | Yes | SD |
1010142 | Bile duct | Â | MLH1/PMS2 loss | Â | Yes | Yes | MLH1b;MSH6;MLH1b; | Â | 48.9 | No | SD |
1010148 | Breast |  |  | MSI by WGS (msIndels 45.0) | Yes | Yes | MSH2b | JAK1 p.K860Nfs*16;p.P430Rfs*2, JAK2 p.L224* | 122.6 | Yes | PD |
1010167 | Endometrium | Â | MLH1/PMS2 loss | Â | Yes | Yes | Â | JAK1 p.K860Nfs*16 | 44.8 | No | NE |
1010211 | CRC | Yes (MSH6) | MSH6/PMS2 loss | Â | Yes | Yes | PMS2;MSH6 | B2M p.Q22* | 60.0 | Yes | SD |
1020053 | CRC | Â | MLH1/PMS2 loss | MSI by PCR (pentaplex) | Yes | Yes | MSH6;MSH2;MLH1 | JAK1 p.S771R | 366.0 | No | NE |
1020056 | Glioblastoma | Yes (MSH2) | Â | Â | No | NA | NA | NA | NA | No | PD |
1040016 | Small intestine | Yes (MLH1) |  | MSI by PCR (8 marker panel) | Yes | Yes | MSH6 | B2M p.M1?;p.T93Lfs*10, JAK1 p.K860Nfs*16;p.P430Rfs*2 | 213.3 | No | PD |
1050048 | Bile duct | Yesa | MLH1/PMS2 loss | Â | Yes | Yes | PMS2 | B2M p.S16Afs*27, JAK2 p.R1113H | 127.0 | Yes | PR |
1050049 | Prostate | Â | Â | MSI by WGS (msIndels 35.6) | Yes | Yes | MSH2b | JAK1 p.K860Nfs*16;p.P430Rfs*2 | 65.0 | Yes | PD |
1070080 | CRC | Â | MLH1/PMS2 loss | MSI by PCR (pentaplex) | Yes | Yes | MSH2;PMS2 | Â | 145.6 | No | SD |
1070085 | Stomach | Â | Â | MSI by NGS (56 marker panel) | Yes | Yes | PMS2 | Â | 105.8 | Yes | PD |
1070119 | Pancreas | Yes (MSH6) | MSH6 loss | Â | Yes | No | Â | Â | 21.7 | No | PD |
1080031 | Bile duct | Â | MLH1/PMS2 loss | Â | Yes | Yes | Â | Â | 80.0 | Yes | PD |
1090033 | CRC | Â | MLH1/PMS2 loss | Â | No | NA | NA | NA | NA | NA | PD |
1110009 | Small intestine | Â | MSH2/MSH6 loss | MSI by PCR (pentaplex) | No | NA | NA | NA | NA | NA | PR |
1130003 | Endometrium | Yes (MSH2) | Â | Â | No | NA | NA | NA | NA | NA | PR |
1130004 | NEC | Â | MLH1 loss | Â | No | NA | NA | NA | NA | NA | SD |
1220010 | Stomach | Â | MLH1/PMS2 loss | Â | No | NA | NA | NA | NA | NA | PD |
1230004 | CRC | Â | MLH1/PMS2 loss | Â | Yes | Yes | MSH6 | B2M p.S16Ffs*29;p.S16Afs*27 | 293.2 | Yes | CR |
1260001 | Stomach | Â | MLH1/PMS2 loss | Â | No | NA | NA | NA | NA | NA | CR |
1330020 | Breast | Â | Â | MSI by WGS (msIndels 63.5) | Yes | Yes | MSH6 | JAK1 p.K860Nfs*16;p.P430Rfs*2, STAT1 p.A479V | 294.0 | Yes | PD |
1340016 | CRC | Yes (MSH2) | Â | Â | Yes | Yes | MSH2 | Â | 217.8 | Yes | SD |
1340017 | CRC | Â | MLH1/PMS2 loss | Â | Yes | Yes | MSH6; PMS2 | B2M p.M1?;p.L15Ffs*41, JAK1 p.K860Nfs*16 | 247.7 | Yes | CR |