Incidence of endometrial and ovarian cancer in female Lynch syndrome carriers detected through screening, or through symptoms during interval visits or regular review
| Authors | Sample size (screening visits) | No of cancers detected on final pathology (% of sample size) and age at diagnosis | No of cancers detected by screening (% of confirmed cancers) | No of interval cancers detected (% of sample size) | No of symptomatic cancers detected at screening or prevalent visit |
| Dove-Edwin et al10 | 269 (522) | 2 (0.74%) EC Both in AC population | 0 (0%) EC | 2 (0.74%) EC (2 stage I) | |
| Rijcken et al11 | 41 (179) | 1 (2.4%) EC at 61 years, MMR status not provided. 0 (0%) OC | 0 (0%) EC 0 (0%) OC | 1 (2%) EC (stage I) | |
| Renkonen-Sinisalo et al12 | 175 (503) | 13 (7.4%) EC at 36-71 years, all MMR carriers (1 additional EC was not screened). 4 (2.3%) OC at 41–50 years, all MMR carriers | 11 (78.6%) EC (9 stage I, 1 stage II, 1 stage III) 0 (0%) OC | 2 (1.1%) EC (2 stage I) 2 (1.1%) OC (stage I, stage III). 2 (1.1%) OC incidental finding from EC surgery (both stage II) | |
| Lecuru et al13 | 62 | 3 (4.8%) EC at 37–50 years, MMR status not provided | 0 (0%) EC | 0 (0%) EC | 3 EC presented with symptoms (3 stage I) |
| Gerritzen et al14 | 100 (285) | Period I: 2 (2%) EC at 52–55 years, in MMR carriers. Period II: 1 (1%) EC at 51 years, in MSH6 carrier. Unknown period: 1 (1%) OC at 50 years, MSH2 | Period I: 1 (50%) EC Period II: 1 (100%) EC (both stage I) 1 (100%) OC (stage III) | 0 (0%) EC | 1 EC symptomatic at prevalent visit (stage III) |
| Jarvinen et al15 | 103 MMR carriers | 19 (18%) EC at 36–72 years 6 (5.8%) OC | 17 (89.5%) EC (13 stage I, 2 stage II, 2 stage III) 3 (50%) OC (2 stage I, 1 stage II) | 2 EC symptomatic: 1 during screening visit; one after prolonged interval. (2 stage I) 3 OC symptomatic (2 stage I, 1 stage III) | |
| Lecuru et al16 | 58 (96) | 2 (3.4%) EC age and MMR status not provided | 0 (0%) EC | 0 (0%) EC | 2 EC at regular review. Stages not provided |
| Guillen-Ponce et al17 | 91 | 2 (2.2%) EC | 2 (0%) EC. Stages not provided | ||
| Bats et al18 | 111 | 7 (6.3%) EC | 7 (100%) EC. Stages not provided | 0 (0%) EC | |
| Arts-De Jong et al28 | 140 (533) | 1 (0.7%) OC at 49 years, MMR status not provided | 1 (0%) OC via CA-125 at prevalent visit (stage III) | ||
| Manchanda et al19 | 41 (69) | 3 (7.3%) EC (2 MLH1 carriers, 1 unknown status). Ages 40–44 years | 3 (100%) EC (3 stage I) | 0 (0%) EC | |
| Stuckless et al20 | 54 | 9 (16.7%) EC at 37–54 years, in MSH2 carriers. 6 (11.1%) OC at 37-82 years, in MSH2 carriers. | 5 (55.6%) EC (4 stage I, 1 stage III) 1 (16.7%) OC (stage II) | 4 (7.4%) EC (3 stage I, 1 stage not provided) 2 (3.7%) OC (1 stage II, 1 not reported) | 3 OC where reason for diagnosis was not reported (1 stage I, 1 stage II, 1 unreported) |
| Helder-Woolderink et al21 | Total: 75 (266) Period I: 44 (117) Period II: 63 (149) | Period I: 1 (2.3%) EC at 42 years, in MSH6 (stage I) Period II: 0 (0%) EC 0 (0%) OC | 0 (0%) EC | 0 (0%) EC 0 (0%) OC | 1 EC with symptoms (stage I) |
| Douay-Hauser et al22 | 157 (504) | 6 (3.8%) EC | 2 (50%) EC stages not provided | 2 ECs at regular review. 2 ECs after 5 years disrupted follow-up | |
| Ketabi et al23 | 871 (1945) | 13 (1.5%) EC at 40–70 years, all in MMR carriers. 4 (0.46%) OC at 37-42 years, in MMR carriers | 3 (23.1%) EC (2 stage I, 1 stage not provided) 1 (25%) OC (stage II) | 5 (0.57%) EC (2 stage I, 2 stage II, 1 stage III) 2 (0.23%) OC (1 stage I, 1 stage III) | 4 EC at regular review (all stage I); 1 EC after prolonged interval (stage IV) 1 OC (stage I) |
| Tzortzatos et al24 | 45 | 7 (15.6%) EC at 40–80 years, all MMR carriers 2 (4.4%) OC, at 38–45 years, in MSH2 carriers | 3 (42.9%) EC (1 stage I, 2 stage II) 2 (100%) OC (2 stage I) | 4 (8.9%) EC (3 stage I, 1 stage 1I) | |
| Gosset et al25 | 191 (620) | 5 (2.6%) EC in MMR carriers. 1 (0.52%) OC Ages not provided | 5 (100%) EC 1 (100%) OC stages not provided | ||
| Nebgen et al26 | 80 (215) | MMR status and ages not provided | 2 (7.4%) EC. Stages not provided | 0 (0%) EC 0 (0%) OC | |
| Rosenthal et al29 | 65 | 3 (4.6%) OC at 35–60 years in MMR carriers | 3 (100%) OC (all stage I) | ||
| Rosenthal et al30 | 120 | 0 (0%) OC | |||
| Eikenboom et al27 | 164 (680) | 5 (3.1%) EC at 37–59 years in MMR carriers 1 (0.6%) OC at 48 years, in MSH2 carrier | 1 (20%) EC (stage I) | 4 (80%) EC (All stage I) 1 (100%) OC (stage IV) |
AC, Amsterdam criteria; CA-125, cancer antigen 125; EC, endometrial cancer; EH, endometrial hyperplasia; MMR, mismatch repair; OC, ovarian cancer.