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Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.
Kim, Yoo-Na; Kim, Min Kyu; Lee, Young Joo; Lee, Youngeun; Sohn, Ji Yeon; Lee, Jung-Yun; Choi, Min Chul; Kim, Migang; Jung, Sang Geun; Joo, Won Duk; Lee, Chan.
Afiliación
  • Kim YN; Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul 03722, Korea.
  • Kim MK; Division of Gynecologic Oncology, Department of Obstetrics & Gynecology, Samsung Changwon Hospital, Sungkyunkwan University of Medicine, Changwon 51353, Korea.
  • Lee YJ; Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul 03722, Korea.
  • Lee Y; Division of Gynecologic Oncology, Department of Obstetrics & Gynecology, Samsung Changwon Hospital, Sungkyunkwan University of Medicine, Changwon 51353, Korea.
  • Sohn JY; Department of Laboratory Medicine, Eone Laboratories, Incheon 22014, Korea.
  • Lee JY; Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul 03722, Korea.
  • Choi MC; Comprehensive Gynecologic Cancer Center, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea.
  • Kim M; Comprehensive Gynecologic Cancer Center, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea.
  • Jung SG; Comprehensive Gynecologic Cancer Center, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea.
  • Joo WD; Comprehensive Gynecologic Cancer Center, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea.
  • Lee C; Comprehensive Gynecologic Cancer Center, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea.
Cancers (Basel) ; 14(14)2022 Jul 13.
Article en En | MEDLINE | ID: mdl-35884469
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Cancers (Basel) Año: 2022 Tipo del documento: Article Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Cancers (Basel) Año: 2022 Tipo del documento: Article Pais de publicación: Suiza