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. 2020 Apr 23;4(5):pkaa027. doi: 10.1093/jncics/pkaa027

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)
a

CI = confidence interval; CRC = colorectal cancer.

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