Source | Population | Design and methods | Data obtained from | Stratified by type of mutation | Risk of bladder cancer |
Bermejo et al18 | All family members of 5095 families fulfilling the Bethesda criteria | Retrospective; analysis of incidence of cancer, compared to the general population | Nationwide Swedish family cancer database | No | RR=1.06 (95% CI 0.90 to 1.24) |
Geary et al16 | All family members of 130 families with MLH1, MSH2 or MSH6 mutations | Retrospective; analysis of incidence of cancer, compared to the general population | Records from 6 cancer genetics units in the London region | Yes, exclusively for MSH2 | RR (MSH2)=3.6, p=0.001 |
Sijmons et al6 | HNPCC patients and their FDR of 50 families | Retrospective; analysis of incidence of cancer, compared to the general population | Dutch hereditary non-polyposis colorectal cancer registry | No | RR=1.52 (95% CI 0.63 to 3.66, p>0.05) |
Watson and Lynch9 | High risk members of 23 HNPCC families | Retrospective; analysis of incidence of cancer, compared to the general population | Contact with family members known at the Hereditary Cancer Institute Creighton and medical records | No | RR= 1.1 (NS) |
Watson et al12 | MC+PMC and their FDR of 261 families with MLH1 or MSH2 mutations | Retrospective; analysis of incidence of cancer | 4 Lynch syndrome registries of Denmark. Finland Netherlands and USA | Yes | CR70* overall=2.4% MLH1 (F)=0.7%, (M)=1.6%; MSH2(F)=2.7%, (M)=7.4% |
↵* As Watson et al did not report bladder cancer risks, we calculated bladder cancer risks by subtracting CR70 6.0 (UTC risk without bladder cancer) from 8.4 (UTC risk kidney, renal pelvis, ureter, bladder). The same has been done for the MLH1 and MSH2 subgroups.
FDR, first degree relative; MC, mutation carrier; PMC, probable mutation carrier; CR, cumulative risk; NS, not significant; F, female; M, male.