Kwak YH, et al. Yonsei Med J. 2022 Feb;63(2):179-186. https://doi.org/10.3349/ymj.2022.63.2.179

Lee YJ, et al. J Korean Acad Nurs Adm. 2015 Sep;21(4):354-365. http://dx.doi.org/10.11111/jkana.2015.21.4.354

We aimed to investigate the prevalence and relative contributions of LS and non-LS mutations in patients with endometrial cancer in Korea. We retrospectively reviewed the medical records of 204 patients diagnosed with endometrial cancer who underwent a germline next generation sequencing multigene panel test covering MLH1, MSH2, MSH6, PMS2, and EPCAM at three tertiary centers. Thirty patients (14.7%) with pathogenic mutations (12 MLH1; 6 MSH2; 10 MSH6; 2 PMS2) and 20 patients (9.8%) with 22 unclassified variants (8 MLH1; 8 MSH2; 2 MSH6; 3 PMS2; 1 EPCAM) were identified. After excluding four close relatives of a proband, the prevalence of LS was 13.0% (26/200). Patients with LS were more likely than those with sporadic cancer to be younger at diagnosis (48 vs. 53 years, p = 0.045) and meet the Amsterdam II criteria (66.7 vs. 3.5%, p < 0.001). Non-endometrioid histology was more prevalent in patients with MSH6 or PMS2 mutations (41.7%) than those with MLH1 or MSH2 mutations (5.6%, p = 0.026). In this pre-selected cohort of endometrial cancer patients who underwent next generation sequencing, the prevalence of LS was 13%, thus supporting the use of gene panel testing for endometrial cancer patients.

Lee YJ, et al. J Gynecol Oncol. 2024 Apr;35:e80. https://doi.org/10.3802/jgo.2024.35.e80

Lee YJ, et al. J Gynecol Oncol. 2024 Mar;35:e73. https://doi.org/10.3802/jgo.2024.35.e73