Table 1

Screening programs for gynecological cancer and participant characteristics across studies which studied outcomes of gynecological cancer screening in female Lynch syndrome carriers

AuthorsRecommended age to commence screening
(years)
Age (mean or median (range)) (years)MMR mutation carrier status (%)Cancers screened forScreening methodScreening interval
Dove-Edwin et al10 30–35UK: 40 (24–64)
Netherlands: 42 (23–68)
AC: 171
Non-AC/AC-II: 98
ECTVUS1–2 years
Rijcken et al11 30–3537 (27–60)MMR: 11 (27%)EC +OCGE+TVUS + CA-125; curettage if positive TVUSAnnually
Renkonen-Sinisalo et al12 30–35MMR: 175 (100%)EC +OCVaried between institutions. GE+TVUS + CA-125 +EB2–3 years
Lecuru et al13 Not provided42MMR: 13 (21%)
AC-II: 49 (79%)
ECEB+hysteroscopyAnnually
Gerritzen et al14 3046 (23–72)MMR: 67 (67%)
No mutation: 21 (21%)
Unknown: 12 (12%)
EC +OCGE+TVUS + CA-125 +ES if indicated; routine ES from 2006Annually
Jarvinen et al15 35MMR carriers: 36 (18–72)
Non-carriers: 42 (18–72)
MMR: 103 (100%)EC +OCTVUS +EB2–3 years
Lecuru et al16 3042.5MMR: 14 (24%)
AC-II: 44 (76%)
ECGE+TVUS + EBAnnually
Guillen-Ponce et al17 Not providedNot providedNot providedECGE+TVUS; EB if TVUS abnormalNot provided
Bats et al18 Not provided41Not providedECGE+pelvic US+hysteroscopy; EB reference standardNot provided
Arts-De Jong et al28 30Not providedMMR: 123 (87.9%)OCTVUS +CA-125Annually
Manchanda et al19 3043MMR: 16 (39%)
AC-II: 25 (61%)
ECTVUS +EB+hysteroscopyAnnually
Stuckless et al20 Not provided36MSH2: 54 (100%)EC +OCTVUS +CA-125+EBNot provided
Helder-Woolderink et al21 30Period I: 38 (26–61)
Period II: 41 (23–67)
MMR: 44 (59%)
EPCAM: 3 (4%)
First degree relatives: 28 (37%)
EC +OCTVUS +CA-125. ES and hysteroscopy if indicated, routine ES from 2008Annually
Douay-Hauser et al22 30Not providedNot providedECGE+EB+TVUS±hysteroscopyAnnually
Ketabi et al23 2539 (19–78)LS (family with confirmed MMR):
236 (27%)
AC: 269 (31%)
AC-like: 366 (42%)
EC +OCGE+TVUS; EB+CA-125 if TVUS abnormal2 years
Tzortzatos et al24 3050 (24–84)MMR: 45 (100%)EC +OCTVUS +CA-125+EBAnnually
Gosset et al25 Not provided51MMR: 191 (100%)EC +OCGE+pelvic US+EB+hysteroscopyAnnually
Nebgen et al26 Not provided39.2 (25.5–73.7)MMR: 56 (70%)
EPCAM: 1 (1%)
AC-II: 23 (29%)
EC +OCGE+EB for EC; TVUS +CA-125 for OCAnnually
Rosenthal et al29 35Nil age range provided for MMR carriers onlyMMR: 65 (100%)OCTVUS +CA-125Annually
Rosenthal et al30 35Nil age range provided for MMR carriers onlyMMR: 120 (100%)OCTVUS annually+CA-125 every 4 monthsAnnually and every 4 months
Eikenboom et al27 30–35 prior to 2016
40 from 2016
46 (21.5–75) prior to 2016
53.8 (30–71.3) after 2016
MMR: 164 (100%)EC +OCES +TVUS +/- CA-125Annually
  • AC, Amsterdam criteria; AC-II, Amsterdam II criteria; CA-125, cancer antigen 125; EB, endometrial biopsy; EC, endometrial cancer; ES, endometrial sampling (curettage or biopsy); GE, gynecological examination; LS, Lynch syndrome; MMR, mismatch repair; OC, ovarian cancer; TVUS, transvaginal ultrasound; US, ultrasound.