New research led by the University of Manchester suggests about 3 per cent of women diagnosed with endometrial cancer (EC) have Lynch syndrome (LS).
The researchers reviewed relevant studies 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, and I2 score was used to assess heterogeneity across studies.
A total of 53 studies, including 12,633 patients with EC, met the inclusion criteria. The overall proportion of endometrial tumours with high microsatellite instability (MSI-H) or mismatch repair deficiency by immunohistochemistry (IHC) was 0.27 (95% CI, 0.25-0.28; I2, 71%) and 0.26 (95% CI, 0.25-0.27; I2, 88%), respectively.
Of those women with abnormal tumour testing, 0.29 (95% CI, 0.25-0.33; I2, 83%) had LS-associated pathogenic variants on germline testing, suggesting that around 3 per cent of ECs can be attributed to LS.
Preselecting EC populations based on age or clinical criteria did not significantly change the proportion of positive IHC or MSI results, although there were higher proportions in these subgroups.
Presenting the results in Genetics in Medicine, the authors say the data support the implementation of universal EC screening for LS.
