Table 1

The three most common mismatch repair (MMR) protein losses and germline and somatic mismatch repair gene alterations in urothelial carcinoma (UC), bladder cancer (BC) and upper tract urothelial carcinoma (UTUC)

TumourUCBCUTUC
MMR protein loss pattern (frequency)MSH2 and MSH6 63/3903 (1.6%)PMS2 9/1671 (0.5%)MSH2 and MSH6
56/1465 (3.8%)
MSH6 57/3903 (1.5%)MLH1 and PMS2 8/1671 (0.5%)MSH6
49/1465 (3.3%)
MLH1 and PMS2 13/3903 (0.3%)MSH6 7/1671 (0.4%)MLH1 and PMS2
4/1465 (0.3%)
Germline MMR gene alteration (frequency)MSH2 33/1084 (3.0%)MSH2 2/463 (0.4%)MSH2 31/621 (5.0%)
MSH6 10/1084 (0.9%)Not availableMSH6 10/621 (1.6%)
MLH1 8/1084 (0.7%)Not availableMLH1 8/621 (1.3%)
Somatic MMR gene alteration (frequency)MSH6 70/3895 (1.8%)MSH6 24/3181 (0.8%)MSH6 36/765 (4.7%)
MLH1 41/3895 (1.1%)MSH2 9/3181 (0.3%)MSH2 25/765 (3.3%)
MSH2 31/3895 (0.8%)MLH1 8/3181 (0.3%)MLH1 18/765 (2.4%)
  • MLH1, MutL protein homolog 1; MSH2, MutS protein homolog 2; MSH6, MutS protein homolog 6; PMS2, postmeiotic segregation increased 2.