Table 2.
Estimated cumulative penetrance by age 70 years of CRC for MLH1, MSH2, and MSH6 mutation carriers by sex and screening statusa
Sex | Gene | Method | Study population | Cum. penetrance (%) with 95% CI |
---|---|---|---|---|
Male | MLH1 | DerSimonian and Laird | All | 35.1 (28.5 to 42.4) |
Unscreened | 36.5 (26.6 to 46.7) | |||
Unspecified | 34.5 (22.6 to 48.7) | |||
Likelihood-based | All | 43.9 (39.6 to 46.6) | ||
Unscreened | 35.3 (29.4 to 40.0) | |||
Unspecified | 49.7 (43.3 to 54.2) | |||
MSH2 | DerSimonian and Laird | All | 50.0 (40.3 to 59.6) | |
Unscreened | 51.8 (36.4 to 66.9) | |||
Unspecified | 47.3 (35.7 to 59.1) | |||
Likelihood-based | All | 53.9 (49.0 to 56.3) | ||
Unscreened | 53.2 (47.1 to 57.4) | |||
Unspecified | 57.0 (49.2 to 62.3) | |||
MSH6 | DerSimonian and Laird | All | 13.8 (9.7 to 19.3) | |
Unscreened | 14.0 (7.2 to 25.6) | |||
Unspecified | 13.7 (9.0 to 20.3) | |||
Likelihood-based | All | 12.0 (2.4 to 24.6) | ||
Unscreened | 19.2 (5.1 to 32.8) | |||
Unspecified | 13.2 (0.6 to 76.2) | |||
Female | MLH1 | DerSimonian and Laird | All | 29.7 (23.2 to 37.1) |
Unscreened | 31.8 (24.4 to 40.2) | |||
Unspecified | 27.4 (15.2 to 44.2) | |||
Likelihood-based | All | 37.3 (32.2 to 40.2) | ||
Unscreened | 34.0 (27.1 to 39.4) | |||
Unspecified | 36.7 (29.6, 42.4) | |||
MSH2 | DerSimonian and Laird | All | 36.0 (30.6 to 41.8) | |
Unscreened | 34.6 (26.9 to 43.2) | |||
Unspecified | 37.5 (28.8 to 47.2) | |||
Likelihood-based | All | 38.6 (34.1 to 42.0) | ||
Unscreened | 37.3 (32.9 to 40.6) | |||
Unspecified | 41.0 (34.4 to 46.3) | |||
MSH6 | DerSimonian and Laird | All | 16.6 (7.4 to 32.9) | |
Unscreened | 10.7 (4.9 to 21.9) | |||
Unspecified | 22.3 (10.5 to 41.2) | |||
Likelihood-based | All | 12.3 (3.5 to 23.2) | ||
Unscreened | 5.3 (0.002 to 16.5) | |||
Unspecified | 29.6 (2.5 to 79.5) |
CI = confidence interval; CRC = colorectal cancer.