Table 1.
Summary of molecular characteristics in MMR-D tumors
| Type of tumor | Pattern of MMR-D | MLH1-methylated MMR-D among all MMR-D cases | MLH1-unmethylated MMR-D among all MMR-D cases | Type of MLH1-unmethylated MMR-D | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| MMR-D (%) | Loss of MLH1/PMS2 among all MMR-D cases | Loss of MSH2/MSH6 among all MMR-D cases | Loss of MSH6 among all MMR-D cases | Loss of PMS2 among all MMR-D cases | LS (A%, B%, C%) | LLS (A%, B%, C%) | Germline VUS (A%, B%, C%) | N.A (genetic testing not performed) (A%, B%, C%) | |||
| CRC | 4.9 (61/1234) | 52 (85.2) | 6 (9.8) | 3 (4.9) | 0 (0) | 50 (82.0) | 11 (18.0) | 9 (81.8%, 14.8%, 0.7%) | 2 (18.2%, 3.3%, 0.2%) | 0 | 0 |
| GC | 11.3 (58/513) | 57 (98.3)a | 0 (0) | 0 (0) | 1 (1.7) | 55 (94.8) | 3 (5.2) | 1 (33.3%, 1.7%, 0.2%) | 2 (66.7%, 3.4%, 0.4%) | 0 | 0 |
| SBC | 6.7 (2/30) | 0 (0) | 2 (100) | 0 (0) | 0 (0) | 0 (0) | 2 (100) | 1 (50.0%, 50.0%, 2.9%) | 1 (50.0%, 50.0%, 2.9%) | 0 | 0 |
| EC | 17.2 (68/395) | 53 (77.9) | 11 (16.2)b | 3 (4.4) | 1(1.5) | 51 (75.0) | 17 (25.0) | 5 (29.4%, 7.4%, 1.3%) | 7 (41.2%, 10.3%, 1.8%) | 2 (11.8%, 2.9%, 0.5%) | 3 (17.6%, 4.4%, 0.8%) |
| OC | 1.0 (3/305) | 2 (66.7) | 1 (33.3) | 0 (0) | 0 (0) | 2 (66.7) | 1 (33.3) | 0 | 1 (100%, 33.3%, 0.3%) | 0 | 0 |
| UUTC | 2.4 (4/164) | 0 (0) | 3 (75.0) | 1 (25.0) | 0 (0) | 0 (0) | 4 (100) | 4 (100%, 100%, 2.4%) | 0 | 0 | 0 |
| UBC | 1.5 (9/618) | 3 (33.3) | 1 (11.1) | 2 (22.2) | 3 (33.3) | 0 (0) | 8 (88.9) | 3 (37.5%, 33.3%, 0.5%) | 0 | 1 (12.5%, 11.1%, 0.2%) | 4 (50.0%, 44.4%, 0.6%) |
| PC | 1.2 (4/337) | 0 (0) | 4 (100) | 0 (0) | 0 (0) | 0 (0) | 4 (100) | 0 | 2 (50.0%, 50.0%, 0.6%) | 0 | 2 (50.0%, 50.0%, 0.6%) |
| ST | 38.5 (5/13) | 1 (20.0) | 4 (80.0) | 0 (0) | 0 (0) | 1 (20.0) | 4 (80.0) | 1 (25.0%, 20.0,% 7.7%) | 3 (75.0%, 60.0%, 23.1%) | 0 | 0 |
| Total | 5.9 (214/3395) | ||||||||||
A%: Proportion among MLH1-unmethylated cases
B%:Proportion among MMR-D cases
C%: Proportion among all cases
ST sebaceous tumor, OC ovarian cancer, CRC colorectal cancer, EC endometrial cancer, SBC small-bowel cancer, GC gastric cancer, PC prostatic cancer, UUTC upper urinary tract cancer, UBC urinary bladder cancer, MMR-D loss of expression of at least one MMR protein
aLoss of MLH1/PMS2/MSH6 was categorized as loss of MLH1/PMS2
bLoss of isolated MSH2 were categorized as loss of MSH2/MSH6