Cited 28 times in
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2
DC Field | Value | Language |
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dc.contributor.author | 김상운 | - |
dc.contributor.author | 김성훈 | - |
dc.contributor.author | 김영태 | - |
dc.contributor.author | 김재훈 | - |
dc.contributor.author | 김지은 | - |
dc.contributor.author | 남은지 | - |
dc.contributor.author | 박형석 | - |
dc.contributor.author | 어경진 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 이정윤 | - |
dc.contributor.author | 한정우 | - |
dc.contributor.author | 박지수 | - |
dc.date.accessioned | 2018-07-20T12:06:35Z | - |
dc.date.available | 2018-07-20T12:06:35Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 1598-2998 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/161796 | - |
dc.description.abstract | Purpose: Next-generation sequencing (NGS) allows simultaneous sequencing of multiple cancer susceptibility genes and may represent a more efficient and less expensive approach than sequential testing. We assessed the frequency of germline mutations in individuals with epithelial ovarian cancer (EOC), using multi-gene panels and NGS. Materials and Methods: Patients with EOC (n=117) with/without a family history of breast or ovarian cancer were recruited consecutively, from March 2016 to December 2016. Germline DNA was sequenced using 35-gene NGS panel, in order to identify mutations. Upon the detection of a genetic alteration using the panel, results were cross-validated using direct sequencing. Results: Thirty-eight patients (32.5%) had 39 pathogenic or likely pathogenic mutations in eight genes, including BRCA1 (n=21), BRCA2 (n=10), BRIP1 (n=1), CHEK2 (n=2), MSH2 (n=1), POLE (n=1), RAD51C (n=2), and RAD51D (n=2). Among 64 patients with a family history of cancer, 27 (42.2%) had 27 pathogenic or likely pathogenic mutations, and six (9.3%) had mutations in genes other than BRCA1/2, such as CHECK2, MSH2, POLE, and RAD51C. Fifty-five patients (47.0%) were identified to carry only variants of uncertain significance. Conclusion: Using the multi-gene panel test, we found that, of all patients included in our study, 32.5% had germline cancer-predisposing mutations. NGS was confirmed to substantially improve the detection rates of a wide spectrum of mutations in EOC patients compared with those obtained with the BRCA1/2 testing alone. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.relation.isPartOf | CANCER RESEARCH AND TREATMENT | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Obstetrics & Gynecology | - |
dc.contributor.googleauthor | Kyung Jin Eoh | - |
dc.contributor.googleauthor | Ji Eun Kim | - |
dc.contributor.googleauthor | Hyung Seok Park | - |
dc.contributor.googleauthor | Seung-Tae Lee | - |
dc.contributor.googleauthor | Ji Soo Park | - |
dc.contributor.googleauthor | Jung Woo Han | - |
dc.contributor.googleauthor | Jung-Yun Lee | - |
dc.contributor.googleauthor | Sunghoon Kim | - |
dc.contributor.googleauthor | Sang Wun Kim | - |
dc.contributor.googleauthor | Jae Hoon Kim | - |
dc.contributor.googleauthor | Young Tae Kim | - |
dc.contributor.googleauthor | , Eun Ji Nam | - |
dc.identifier.doi | 10.4143/crt.2017.220 | - |
dc.contributor.localId | A00526 | - |
dc.contributor.localId | A00595 | - |
dc.contributor.localId | A00729 | - |
dc.contributor.localId | A00876 | - |
dc.contributor.localId | A04546 | - |
dc.contributor.localId | A01262 | - |
dc.contributor.localId | A01753 | - |
dc.contributor.localId | A04842 | - |
dc.contributor.localId | A04627 | - |
dc.contributor.localId | A04638 | - |
dc.contributor.localId | A04325 | - |
dc.relation.journalcode | J00453 | - |
dc.identifier.eissn | 2005-9256 | - |
dc.identifier.pmid | 29020732 | - |
dc.subject.keyword | Ethnicity | - |
dc.subject.keyword | Germ-line mutation | - |
dc.subject.keyword | Next-generation sequencing | - |
dc.subject.keyword | Ovarian epithelial cancer | - |
dc.subject.keyword | Prevalence | - |
dc.contributor.alternativeName | Kim, Sang Wun | - |
dc.contributor.alternativeName | Kim, Sung Hoon | - |
dc.contributor.alternativeName | Kim, Young Tae | - |
dc.contributor.alternativeName | Kim, Jae Hoon | - |
dc.contributor.alternativeName | Kim, Jieun | - |
dc.contributor.alternativeName | Nam, Eun Ji | - |
dc.contributor.alternativeName | Park, Hyung Seok | - |
dc.contributor.alternativeName | Eoh, Kyung Jin | - |
dc.contributor.alternativeName | Lee, Seung-Tae | - |
dc.contributor.alternativeName | Lee, Jung-Yun | - |
dc.contributor.alternativeName | Han, Jung Woo | - |
dc.contributor.affiliatedAuthor | Kim, Sang Wun | - |
dc.contributor.affiliatedAuthor | Kim, Sung Hoon | - |
dc.contributor.affiliatedAuthor | Kim, Young Tae | - |
dc.contributor.affiliatedAuthor | Kim, Jae Hoon | - |
dc.contributor.affiliatedAuthor | Kim, Jieun | - |
dc.contributor.affiliatedAuthor | Nam, Eun Ji | - |
dc.contributor.affiliatedAuthor | Park, Hyung Seok | - |
dc.contributor.affiliatedAuthor | Eoh, Kyung Jin | - |
dc.contributor.affiliatedAuthor | Lee, Seung-Tae | - |
dc.contributor.affiliatedAuthor | Lee, Jung-Yun | - |
dc.contributor.affiliatedAuthor | Han, Jung Woo | - |
dc.citation.volume | 50 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 917 | - |
dc.citation.endPage | 925 | - |
dc.identifier.bibliographicCitation | CANCER RESEARCH AND TREATMENT, Vol.50(3) : 917-925, 2018 | - |
dc.identifier.rimsid | 59408 | - |
dc.type.rims | ART | - |
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