Table 3

Cumulative incidences of individual cancers in carriers of path_MMR variants in the different genes from 25 years of age up to the age of 75 are shown. Incidence of breast, endometrial and ovarian cancers were calculated in females and incidence of prostate cancers calculated in men; all others in both genders combined

ICD9OrganAgeCumulative incidence by age (% (95% CI))
path_MLH1 path_MSH2 path_MSH6 path_PMS2
Colorectal cancer
153Colon4012.9 (8.8 to 17.1)8.6 (3.9 to 13.3)00
5025.7 (20.7 to 30.7)20.2 (13.9 to 26.4)1.8 (0.0 to 5.2)0
6036.0 (30.4 to 41.6)27.3 (20.3 to 34.3)5.3 (0.0 to 11.2)0
7041.6 (35.2 to 48.0)40.2 (31.3 to 49.1)14.2 (3.1 to 25.4)0
7546.7 (39.2 to 54.3)42.4 (32.9 to 51.9)14.2 (3.1 to 25.4)0
154Sigmoid and rectum401.6 (0.2 to 3.0)0.6 (0.0 to 1.8)00
503.2 (1.3 to 5.0)4.7 (1.7 to 7.7)00
606.3 (3.6 to 9.0)9.8 (5.5 to 14.1)3.0 (0.0 to 7.1)0
709.2 (5.6 to 12.9)13.5 (8.0 to 19.0)4.6 (0.0 to 9.7)0
7511.8 (7.2 to 16.4)18.3 (10.9 to 25.6)4.6 (0.0 to 9.7)0
Endometrial and ovarian cancer
182Endometrium403.1 (0.4 to 5.8)1.5 (0.0 to 4.4)00
5018.7 (12.9 to 24.5)15.9 (7.9 to 23.8)15.4 (4.1 to 26.8)0
6034.8 (27.1 to 42.5)40.9 (29.2 to 52.6)33.2 (16.5 to 49.9)26.4 (0.8 to 51.9)
7040.3 (31.5 to 49.1)52.7 (38.7 to 66.8)46.2 (27.3 to 65.0)26.4 (0.8 to 51.9)
7542.7 (33.1 to 52.3)56.7 (41.8 to 71.6)46.2 (27.3 to 65.0)26.4 (0.8 to 51.9)
183Ovaries402.6 (0.1 to 5.2)3.8 (0.0 to 8.0)4.2 (0.0 to 12.3)0
506.8 (2.9 to 10.7)10.7 (4.1 to 17.4)4.2 (0.0 to 12.3)0
608.6 (4.0 to 13.2)12.3 (5.1 to 19.5)4.2 (0.0 to 12.3)0
7010.1 (4.8 to 15.4)16.9 (5.7 to 28.0)13.1 (0.0 to 31.2)0
7510.1 (4.8 to 15.4)16.9 (5.7 to 28.0)13.1 (0.0 to 31.2)0
Upper gastrointestinal cancer
151Stomach400.3 (0.0 to 0.9)000
500.8 (0.0 to 1.7)0.5 (0.0 to 1.4)00
602.4 (0.7 to 4.0)1.6 (0.0 to 3.4)1.4 (0.0 to 4.2)0
706.3 (3.0 to 9.7)4.1 (0.8 to 7.5)1.4 (0.0 to 4.2)0
757.1 (3.5 to 10.8)7.7 (1.9 to 13.6)5.3 (0.0 to 13.1)0
152Duodenum400.4 (0.0 to 1.1)000
501.1 (0.0 to 2.3)1.0 (0.0 to 2.3)00
602.1 (0.5 to 3.7)2.0 (0.1 to 4.0)00
704.1 (1.4 to 6.8)2.0 (0.1 to 4.0)00
756.5 (2.7 to 10.2)2.0 (0.1 to 4.0)00
156Bile duct and gall bladder400000
500.3 (0.0 to 0.8)000
601.3 (0.0 to 2.5)000
703.7 (1.3 to 6.2)000
753.7 (1.3 to 6.2)1.7 (0.0 to 5.1)00
157Pancreas400.3 (0.0 to 0.9)000
501.1 (0.0 to 2.1)000
601.7 (0.3 to 3.1)0.5 (0.0 to 1.5)1.4 (0.0 to 4.2)0
703.9 (1.4 to 6.4)0.5 (0.0 to 1.5)1.4 (0.0 to 4.2)0
756.2 (2.6 to 9.8)0.5 (0.0 to 1.5)1.4 (0.0 to 4.2)0
Urinary tract cancer
188Urinary bladder400000
500.5 (0.0 to 1.2)1.0 (0.0 to 2.3)2.9 (0.0 to 7.0)0
601.9 (0.4 to 3.4)3.6 (1.0 to 6.3)4.3 (0.0 to 9.1)0
704.1 (1.5 to 6.7)6.2 (2.3 to 10.2)4.3 (0.0 to 9.1)0
754.1 (1.5 to 6.7)8.1 (2.8 to 13.3)8.2 (0.0 to 16.9)0
189Ureter and kidney400.3 (0.0 to 0.9)000
500.8 (0.0 to 1.8)2.4 (0.3 to 4.5)00
601.1 (0.0 to 2.2)6.9 (3.3 to 10.5)1.4 (0.0 to 4.2)0
703.8 (1.2 to 6.4)16.0 (9.6 to 22.4)3.0 (0.0 to 7.0)0
754.6 (1.6 to 7.6)17.8 (10.6 to 25.0)3.0 (0.0 to 7.0)0
Other LS or possible LS cancers
174Breast4002.6 (0.0 to 6.2)00
502.9 (0.6 to 5.2)5.2 (0.7 to 9.8)00
608.3 (4.2 to 12.4)6.1 (1.3 to 11.0)4.7 (0.0 to 11.0)8.6 (0.0 to 24.8)
7012.0 (6.7 to 17.3)11.5 (4.6 to 18.4)13.3 (2.2 to 24.4)8.6 (0.0 to 24.8)
7512.0 (6.7 to 17.3)11.5 (4.6 to 18.4)13.3 (2.2 to 24.4)55.9 (0.0 to 100.0)
185Prostate400000
500.6 (0.0 to 1.6)0037.9 (0.0 to 95.9)
605.3 (1.4 to 9.1)4.2 (0.0 to 8.8)037.9 (0.0 to 95.9)
7013.3 (6.1 to 20.4)13.2 (3.7 to 6.1)4.4 (0.0 to 12.9)37.9 (0.0 to 95.9)
7516.9 (8.5 to 25.3)31.6 (11.7 to 51.5)18.3 (0.0 to 44.4)37.9 (0.0 to 95.9)
191Brain400.3 (0.0 to 0.9)000
500.3 (0.0 to 0.9)000
600.3 (0.0 to 0.9)1.1 (0.0 to 2.6)1.4 (0.0 to 4.2)0
701.0 (0.0 to 2.4)1.9 (0.0 to 4.0)1.4 (0.0 to 4.2)0
751.0 (0.0 to 2.4)5.3 (0.2 to 10.3)1.4 (0.0 to 4.2)0
  • LS, Lynch syndrome