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Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test

Authors
 Yoo-Na Kim  ;  Min Kyu Kim  ;  Young Joo Lee  ;  Youngeun Lee  ;  Ji Yeon Sohn  ;  Jung-Yun Lee  ;  Min Chul Choi  ;  Migang Kim  ;  Sang Geun Jung  ;  Won Duk Joo  ;  Chan Lee 
Citation
 CANCERS, Vol.14(14) : 3406, 2022-07 
Journal Title
CANCERS
Issue Date
2022-07
Keywords
Lynch Syndrome ; endometrial cancer ; next generation sequencing ; prevalence
Abstract
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.
Files in This Item:
T9992022663.pdf Download
DOI
10.3390/cancers14143406
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Yoo‐Na(김유나)
Lee, Young Joo(이영주)
Lee, Jung-Yun(이정윤) ORCID logo https://orcid.org/0000-0001-7948-1350
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/193434
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