Table 1.
Cumulative risk at 70 years for colo-rectal cancer (CRC), endometrial cancer and ovarian cancer in three retrospective studies of carriers [19–21] and prospective findings in carriers followed-up by colonoscopy reported by PLSD [15]
| Cancer | Study | Gender | 70 years cumulative incidence (95% confidence interval) | |||
|---|---|---|---|---|---|---|
| Path_MLH1 | Path_MSH2 | Path_MSH6 | Path_PMS2 | |||
| CRC | Bonadona et al. [19] | both genders | 41% (25–70%) | 48% (30–77%) | 12% (8–22%) | |
| Dowty et al. [20] | males | 34% (25–50%) | 47% (36–60%) | |||
| females | 36% (25–51%) | 37% (27–50%) | ||||
| Ten Broeke et al. [21] | males | 13% (8–22%)a | ||||
| females | 12% (7–21%)a | |||||
| PLSD [15] | males | 53% (45–62%) | 46% (37–59%) | 12% (5–35%) | 3% (1–35%) | |
| females | 44% (37–52%) | 42% (35–50%) | 20% (12–41%) | |||
| Endometrial cancer | Bonadona et al. [19] | females | 54% (20–80%) | 21% (8–77%) | 16% (8–32%) | |
| Dowty et al. [20] | females | 18% (9–34%) | 30% (18–45%) | |||
| Ten Broeke et al. [21] | females | 13% (7–24%)a | ||||
| PLSD [15] | females | 35% (29–43%) | 47% (38–56%) | 41% (29–58%) | 13% (5–50%) | |
| Ovarian cancer | Bonadona et al. [19] | females | 20% (1–65%) | 24% (3–52%) | 1% (0–3%) | |
| Dowty et al. [20] | females | 13% (6–26%) | 10% (4–21%) | |||
| Ten Broeke et al. [21] | females | Not increased | ||||
| PLSD [15] | females | 11% (7–17%) | 17% (12–27%) | 11% (4–33%) | 3% (1–43%) | |
aCumulative risk at 80 years