The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis

N A J Ryan, M A Glaire, D Blake, M Cabrera-Dandy, D G Evans, E J Crosbie*

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

124 Citations (Scopus)
84 Downloads (Pure)


PURPOSE: Endometrial cancer (EC) is often the sentinel cancer in women with Lynch syndrome (LS). However, efforts to implement universal LS screening in EC patients have been hampered by a lack of evidence detailing the proportion of EC patients that would be expected to screen positive for LS.

METHODS: Studies were identified by electronic searches of Medline, Embase, Cochrane CENTRAL and Web of Science. Proportions of test positivity were calculated by random and fixed-effects meta-analysis models. I2 score was used to assess heterogeneity across studies.

RESULTS: Fifty-three studies, including 12,633 EC patients, met the inclusion criteria. The overall proportion of endometrial tumors with microsatellite instability or mismatch repair (MMR) deficiency by immunohistochemistry (IHC) was 0.27 (95% confidence interval [CI] 0.25-0.28, I2: 71%) and 0.26 (95% CI 0.25-0.27, I2: 88%), respectively. Of those women with abnormal tumor testing, 0.29 (95% CI 0.25-0.33, I2: 83%) had LS-associated pathogenic variants on germline testing; therefore around 3% of ECs can be attributed to LS. Preselection of EC cases did increase the proportion of germline LS diagnoses.

CONCLUSION: The current study suggests that prevalence of LS in EC patients is approximately 3%, similar to that of colorectal cancer patients; therefore our data support the implementation of universal EC screening for LS.

Original languageEnglish
Pages (from-to)2167-2180
Number of pages14
JournalGenetics in Medicine
Issue number10
Early online date14 May 2019
Publication statusPublished - 1 Oct 2019


  • Adult
  • Brain Neoplasms/genetics
  • Colorectal Neoplasms/genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis/genetics
  • Comorbidity
  • DNA Mismatch Repair/genetics
  • Early Detection of Cancer
  • Endometrial Neoplasms/genetics
  • Female
  • Genetic Testing
  • Germ-Line Mutation
  • Humans
  • Immunohistochemistry
  • Microsatellite Instability
  • Middle Aged
  • Neoplastic Syndromes, Hereditary/genetics


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