Cited 3 times in
Copy number aberrations in circulating tumor DNA enables prognosis prediction and molecular characterization of breast cancer
DC Field | Value | Language |
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dc.contributor.author | 김건민 | - |
dc.contributor.author | 김민환 | - |
dc.contributor.author | 김상우 | - |
dc.contributor.author | 김승일 | - |
dc.contributor.author | 김지예 | - |
dc.contributor.author | 김지형 | - |
dc.contributor.author | 박병우 | - |
dc.contributor.author | 박세호 | - |
dc.contributor.author | 박형석 | - |
dc.contributor.author | 백순명 | - |
dc.contributor.author | 손주혁 | - |
dc.contributor.author | 정준 | - |
dc.contributor.author | 김슬기 | - |
dc.date.accessioned | 2023-11-07T08:00:50Z | - |
dc.date.available | 2023-11-07T08:00:50Z | - |
dc.date.issued | 2023-09 | - |
dc.identifier.issn | 0027-8874 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/196572 | - |
dc.description.abstract | Background: Low-pass whole-genome sequencing (LP-WGS)-based circulating tumor DNA (ctDNA) analysis is a versatile tool for somatic copy number aberration (CNA) detection, and this study aims to explore its clinical implication in breast cancer. Methods: We analyzed LP-WGS ctDNA data from 207 metastatic breast cancer (MBC) patients to explore prognostic value of ctDNA CNA burden and validated it in 465 stage II-III triple-negative breast cancer (TNBC) patients who received neoadjuvant chemotherapy in phase III PEARLY trial (NCT02441933). The clinical implication of locus level LP-WGS ctDNA profiling was further evaluated. Results: We found that a high baseline ctDNA CNA burden predicts poor overall survival and progression-free survival of MBC patients. The post hoc analysis of the PEARLY trial showed that a high baseline ctDNA CNA burden predicted poor disease-free survival independent from pathologic complete response (pCR), validating its robust prognostic significance. The 24-month disease-free survival rate was 96.9% and 55.9% in [pCR(+) and low I-score] and [non-pCR and high I-score] patients, respectively. The locus-level ctDNA CNA profile classified MBC patients into 5 molecular clusters and revealed targetable oncogenic CNAs. LP-WGS ctDNA and in vitro analysis identified the BCL6 amplification as a resistance factor for CDK4/6 inhibitors. We estimated ctDNA-based homologous recombination deficiency status of patients by shallowHRD algorithm, which was highest in the TNBC and correlated with platinum-based chemotherapy response. Conclusions: These results demonstrate LP-WGS ctDNA CNA analysis as an essential tool for prognosis prediction and molecular profiling. Particularly, ctDNA CNA burden can serve as a useful determinant for escalating or de-escalating (neo)adjuvant strategy in TNBC patients. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Oxford University Press | - |
dc.relation.isPartOf | JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Biomarkers, Tumor / genetics | - |
dc.subject.MESH | Circulating Tumor DNA* / genetics | - |
dc.subject.MESH | DNA Copy Number Variations | - |
dc.subject.MESH | Disease-Free Survival | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Prognosis | - |
dc.subject.MESH | Triple Negative Breast Neoplasms* / drug therapy | - |
dc.subject.MESH | Triple Negative Breast Neoplasms* / genetics | - |
dc.subject.MESH | Triple Negative Breast Neoplasms* / pathology | - |
dc.title | Copy number aberrations in circulating tumor DNA enables prognosis prediction and molecular characterization of breast cancer | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.googleauthor | Min Hwan Kim | - |
dc.contributor.googleauthor | Gun Min Kim | - |
dc.contributor.googleauthor | Jin Mo Ahn | - |
dc.contributor.googleauthor | Won-Ji Ryu | - |
dc.contributor.googleauthor | Seul-Gi Kim | - |
dc.contributor.googleauthor | Jee Hung Kim | - |
dc.contributor.googleauthor | Tae Yeong Kim | - |
dc.contributor.googleauthor | Hyun Ju Han | - |
dc.contributor.googleauthor | Jee Ye Kim | - |
dc.contributor.googleauthor | Hyung Seok Park | - |
dc.contributor.googleauthor | Seho Park | - |
dc.contributor.googleauthor | Byeong Woo Park | - |
dc.contributor.googleauthor | Seung Il Kim | - |
dc.contributor.googleauthor | Joon Jeong | - |
dc.contributor.googleauthor | Jieun Lee | - |
dc.contributor.googleauthor | Soonmyung Paik | - |
dc.contributor.googleauthor | Sangwoo Kim | - |
dc.contributor.googleauthor | Kyung Hae Jung | - |
dc.contributor.googleauthor | Eun Hae Cho | - |
dc.contributor.googleauthor | Joohyuk Sohn | - |
dc.identifier.doi | 10.1093/jnci/djad080 | - |
dc.contributor.localId | A00287 | - |
dc.contributor.localId | A00482 | - |
dc.contributor.localId | A00524 | - |
dc.contributor.localId | A00658 | - |
dc.contributor.localId | A00984 | - |
dc.contributor.localId | A00999 | - |
dc.contributor.localId | A01475 | - |
dc.contributor.localId | A01524 | - |
dc.contributor.localId | A01753 | - |
dc.contributor.localId | A01823 | - |
dc.contributor.localId | A01995 | - |
dc.contributor.localId | A03727 | - |
dc.relation.journalcode | J01896 | - |
dc.identifier.eissn | 1460-2105 | - |
dc.identifier.pmid | 37166557 | - |
dc.identifier.url | https://academic.oup.com/jnci/article/115/9/1036/7160151 | - |
dc.contributor.alternativeName | Kim, Gun Min | - |
dc.contributor.affiliatedAuthor | 김건민 | - |
dc.contributor.affiliatedAuthor | 김민환 | - |
dc.contributor.affiliatedAuthor | 김상우 | - |
dc.contributor.affiliatedAuthor | 김승일 | - |
dc.contributor.affiliatedAuthor | 김지예 | - |
dc.contributor.affiliatedAuthor | 김지형 | - |
dc.contributor.affiliatedAuthor | 박병우 | - |
dc.contributor.affiliatedAuthor | 박세호 | - |
dc.contributor.affiliatedAuthor | 박형석 | - |
dc.contributor.affiliatedAuthor | 백순명 | - |
dc.contributor.affiliatedAuthor | 손주혁 | - |
dc.contributor.affiliatedAuthor | 정준 | - |
dc.citation.volume | 115 | - |
dc.citation.number | 9 | - |
dc.citation.startPage | 1036 | - |
dc.citation.endPage | 1049 | - |
dc.identifier.bibliographicCitation | JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, Vol.115(9) : 1036-1049, 2023-09 | - |
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