Ovarian cancer in Lynch syndrome; a systematic review

Eur J Cancer. 2016 Mar:55:65-73. doi: 10.1016/j.ejca.2015.12.005. Epub 2016 Jan 13.


Objective: The aim was to systematically review the characteristics of ovarian cancer in women with Lynch syndrome (LS) and evaluate the role of surveillance in detection of ovarian cancer in LS.

Methods: All studies between 1979 and 2015 of women with ovarian cancer and LS or at 50% risk of LS were evaluated. Two reviewers independently evaluated eligible studies and extracted data on age at diagnosis, histological type, FIGO stage, and way of detection according to pre-specified criteria. The studies were assessed for quality using the Newcastle-Ottawa quality assessment scales.

Results: The quality score of the 49 identified studies was at least 6 out of 8 and provide clinical information on 747 LS women with ovarian cancer. The mean age at diagnosis was 45.3 (range 19-82) years. Most frequent mutations were MSH2 (47%) and MLH1 (38%). Histopathological data were available for 445 women. The most frequently reported histological type was mixed type (mucinous/endometrioid/clear cell carcinomas) (n = 136; 31%). Most tumours (281, 65%) were diagnosed at an early stage (FIGO I/II). Six studies evaluating the effect of surveillance of ovarian cancer, reported that seven of 22 (32%) ovarian cancers were found during surveillance, 6/7 (86%) were detected at an early stage.

Conclusion: This systematic review describes that ovarian cancer in women with LS has a wide age-range of onset, is often diagnosed at an early stage with frequently endometrioid/clear cell histology. Data about the role of surveillance in detection of ovarian cancer in women with LS are scarce however detection at an early stage seems possible.

Keywords: Lynch syndrome; Ovarian cancer; Screening; Surveillance; Systematic review.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics
  • Carcinoma, Endometrioid / diagnosis*
  • Carcinoma, Endometrioid / epidemiology
  • Carcinoma, Endometrioid / genetics
  • Carcinoma, Endometrioid / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Early Detection of Cancer / methods*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Mutation
  • Neoplasm Staging
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / pathology
  • Pedigree
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Risk Factors
  • Time Factors
  • Young Adult


  • Biomarkers, Tumor