期刊
GENETICS IN MEDICINE
卷 21, 期 10, 页码 2167-2180出版社
ELSEVIER SCIENCE INC
DOI: 10.1038/s41436-019-0536-8
关键词
systematic review; Lynch syndrome; endometrial cancer; mismatch repair (MMR) immunohistochemistry; microsatellite instability (MSI)
资金
- Medical Research Council (MRC) [MR/M018431/1]
- Wellcome Trust Clinical Training Fellowship
- National Institute for Health Research (NIHR) Clinician Scientist Fellowship [NIHR-CS-012-009]
- MRC
- Wellcome Trust
- NIHR
- NIHR Manchester Biomedical Research Centre [IS-BRC-1215-20007]
- MRC [MR/M018431/1] Funding Source: UKRI
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. I-2 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, I-2: 71%) and 0.26 (95% CI 0.25-0.27, I-2: 88%), respectively. Of those women with abnormal tumor testing, 0.29 (95% CI 0.25-0.33, I-2: 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.
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