Cited 3 times in
Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test
DC Field | Value | Language |
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dc.contributor.author | 이영주 | - |
dc.contributor.author | 김유나 | - |
dc.contributor.author | 이정윤 | - |
dc.date.accessioned | 2023-03-21T07:33:25Z | - |
dc.date.available | 2023-03-21T07:33:25Z | - |
dc.date.issued | 2022-07 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/193434 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | MDPI | - |
dc.relation.isPartOf | CANCERS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Obstetrics and Gynecology (산부인과학교실) | - |
dc.contributor.googleauthor | Yoo-Na Kim | - |
dc.contributor.googleauthor | Min Kyu Kim | - |
dc.contributor.googleauthor | Young Joo Lee | - |
dc.contributor.googleauthor | Youngeun Lee | - |
dc.contributor.googleauthor | Ji Yeon Sohn | - |
dc.contributor.googleauthor | Jung-Yun Lee | - |
dc.contributor.googleauthor | Min Chul Choi | - |
dc.contributor.googleauthor | Migang Kim | - |
dc.contributor.googleauthor | Sang Geun Jung | - |
dc.contributor.googleauthor | Won Duk Joo | - |
dc.contributor.googleauthor | Chan Lee | - |
dc.identifier.doi | 10.3390/cancers14143406 | - |
dc.contributor.localId | A06232 | - |
dc.contributor.localId | A05561 | - |
dc.contributor.localId | A04638 | - |
dc.relation.journalcode | J03449 | - |
dc.identifier.eissn | 2072-6694 | - |
dc.identifier.pmid | 35884469 | - |
dc.subject.keyword | Lynch Syndrome | - |
dc.subject.keyword | endometrial cancer | - |
dc.subject.keyword | next generation sequencing | - |
dc.subject.keyword | prevalence | - |
dc.contributor.alternativeName | Lee, Young Joo | - |
dc.contributor.affiliatedAuthor | 이영주 | - |
dc.contributor.affiliatedAuthor | 김유나 | - |
dc.contributor.affiliatedAuthor | 이정윤 | - |
dc.citation.volume | 14 | - |
dc.citation.number | 14 | - |
dc.citation.startPage | 3406 | - |
dc.identifier.bibliographicCitation | CANCERS, Vol.14(14) : 3406, 2022-07 | - |
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