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

  • 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
  • Yonsei University
  • Sungkyunkwan University
  • EONE Laboratories
  • CHA University

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number3406
JournalCancers
Volume14
Issue number14
DOIs
StatePublished - Jul 2022

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • endometrial cancer
  • Lynch Syndrome
  • next generation sequencing
  • prevalence

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