Cited 23 times in
Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer
DC Field | Value | Language |
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dc.contributor.author | 김상운 | - |
dc.contributor.author | 김성훈 | - |
dc.contributor.author | 김영태 | - |
dc.contributor.author | 김혜민 | - |
dc.contributor.author | 남은지 | - |
dc.contributor.author | 어경진 | - |
dc.contributor.author | 이정윤 | - |
dc.date.accessioned | 2020-04-13T17:05:43Z | - |
dc.date.available | 2020-04-13T17:05:43Z | - |
dc.date.issued | 2020 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/175643 | - |
dc.description.abstract | BACKGROUND: Poly (ADP-ribose) polymerase inhibitors targeting BRCA1/2 mutations are available for treating patients with high-grade serous ovarian cancer. These treatments may be more appropriately directed to patients who might respond if the tumor tissue is additionally tested by next-generation sequencing with a multi-gene panel and Sanger sequencing of a blood sample. In this study, we compared the results obtained using the next-generation sequencing multi-gene panel to a known germline BRCA1/2 mutational state determined by conventional Sanger sequencing to evaluate the landscape of somatic mutations in high-grade serous ovarian cancer tumors. METHODS: Cancer tissue from 98 patients with high-grade serous ovarian cancer who underwent Sanger sequencing for germline BRCA1/2 analysis were consecutively analyzed for somatic mutations using a next-generation sequencing 170-gene panel. RESULTS: Twenty-four patients (24.5%) showed overall BRCA1/2 mutations. Seven patients (7.1%) contained only somatic BRCA1/2 mutations with wild-type germline BRCA1/2, indicating acquired mutation of BRCA1/2. Three patients (3.1%) showed reversion of germline BRCA1 mutations. Among the 14 patients (14.3%) with both germline and somatic mutations in BRCA1/2, two patients showed different variations of BRCA1/2 mutations. The next-generation sequencing panel test for somatic mutation detected other pathogenic variations including RAD51D and ARID1A, which are possible targets of poly (ADP-ribose) polymerase inhibitors. Compared to conventional Sanger sequencing alone, next-generation sequencing-based tissue analysis increased the number of candidates for poly (ADP-ribose) polymerase inhibitor treatment from 17.3% (17/98) to 26.5% (26/98). CONCLUSIONS: Somatic mutation analysis by next-generation sequencing, in addition to germline BRCA1/2 mutation analysis, should become the standard of care for managing women with high-grade serous ovarian cancer to widen the indication of poly (ADP-ribose) polymerase inhibitors. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | BioMed Central | - |
dc.relation.isPartOf | BMC CANCER | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Obstetrics and Gynecology (산부인과학교실) | - |
dc.contributor.googleauthor | Kyung Jin Eoh | - |
dc.contributor.googleauthor | Hye Min Kim | - |
dc.contributor.googleauthor | Jung-Yun Lee | - |
dc.contributor.googleauthor | Sunghoon Kim | - |
dc.contributor.googleauthor | Sang Wun Kim | - |
dc.contributor.googleauthor | Young Tae Kim | - |
dc.contributor.googleauthor | Eun Ji Nam | - |
dc.identifier.doi | 10.1186/s12885-020-6693-y | - |
dc.contributor.localId | A00526 | - |
dc.contributor.localId | A00595 | - |
dc.contributor.localId | A00729 | - |
dc.contributor.localId | A04553 | - |
dc.contributor.localId | A01262 | - |
dc.contributor.localId | A04842 | - |
dc.contributor.localId | A04638 | - |
dc.relation.journalcode | J00351 | - |
dc.identifier.eissn | 1471-2407 | - |
dc.identifier.pmid | 32164585 | - |
dc.subject.keyword | BRCA1/2 mutation | - |
dc.subject.keyword | High-grade serous ovarian cancer | - |
dc.subject.keyword | Next-generation sequencing | - |
dc.subject.keyword | Poly (ADP-ribose) polymerase | - |
dc.contributor.alternativeName | Kim, Sang Wun | - |
dc.contributor.affiliatedAuthor | 김상운 | - |
dc.contributor.affiliatedAuthor | 김성훈 | - |
dc.contributor.affiliatedAuthor | 김영태 | - |
dc.contributor.affiliatedAuthor | 김혜민 | - |
dc.contributor.affiliatedAuthor | 남은지 | - |
dc.contributor.affiliatedAuthor | 어경진 | - |
dc.contributor.affiliatedAuthor | 이정윤 | - |
dc.citation.volume | 20 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 204 | - |
dc.identifier.bibliographicCitation | BMC CANCER, Vol.20(1) : 204, 2020 | - |
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