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Genomic landscape of extraordinary responses in metastatic breast cancer

DC Field Value Language
dc.contributor.author구자승-
dc.contributor.author김건민-
dc.contributor.author김민환-
dc.contributor.author김상우-
dc.contributor.author김승일-
dc.contributor.author김지예-
dc.contributor.author김지형-
dc.contributor.author박병우-
dc.contributor.author박세호-
dc.contributor.author박형석-
dc.contributor.author백순명-
dc.contributor.author손주혁-
dc.contributor.author임선민-
dc.contributor.author전민경-
dc.contributor.author조영업-
dc.date.accessioned2021-09-29T01:37:02Z-
dc.date.available2021-09-29T01:37:02Z-
dc.date.issued2021-04-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/184461-
dc.description.abstractExtreme responders to anticancer therapy are rare among advanced breast cancer patients. Researchers, however, have yet to investigate treatment responses therein on the whole exome level. We performed whole exome analysis to characterize the genomic landscape of extreme responders among metastatic breast cancer patients. Clinical samples were obtained from breast cancer patients who showed exceptional responses to anti-HER2 therapy or hormonal therapy and from those who did not. Matched breast tumor tissue (somatic DNA) and blood samples (germline DNA) were collected from a total of 30 responders and 15 non-responders. Whole exome sequencing using Illumina HiSeq2500 was performed for all 45 patients (90 samples). Somatic single nucleotide variants (SNVs), indels, and copy number variants (CNVs) were identified for the genomes of each patient. Group-specific somatic variants and mutational burden were statistically analyzed. Sequencing of cancer exomes for all patients revealed 1839 somatic SNVs (1661 missense, 120 nonsense, 43 splice-site, 15 start/stop-lost) and 368 insertions/deletions (273 frameshift, 95 in-frame), with a median of 0.7 mutations per megabase (range, 0.08 to 4.2 mutations per megabase). Responders harbored a significantly lower nonsynonymous mutational burden (median, 26 vs. 59, P = 0.02) and fewer CNVs (median 13.6 vs. 97.7, P = 0.05) than non-responders. Multivariate analyses of factors influencing progression-free survival showed that a high mutational burden and visceral metastases were significantly related with disease progression. Extreme responders to treatment for metastatic breast cancer are characterized by fewer nonsynonymous mutations and CNVs.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherNature Publishing Group UK-
dc.relation.isPartOfCOMMUNICATIONS BIOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleGenomic landscape of extraordinary responses in metastatic breast cancer-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pathology (병리학교실)-
dc.contributor.googleauthorSun Min Lim-
dc.contributor.googleauthorEunyoung Kim-
dc.contributor.googleauthorKyung Hae Jung-
dc.contributor.googleauthorSora Kim-
dc.contributor.googleauthorJa Seung Koo-
dc.contributor.googleauthorSeung Il Kim-
dc.contributor.googleauthorSeho Park-
dc.contributor.googleauthorHyung Seok Park-
dc.contributor.googleauthorByoung Woo Park-
dc.contributor.googleauthorYoung Up Cho-
dc.contributor.googleauthorJi Ye Kim-
dc.contributor.googleauthorSoonmyung Paik-
dc.contributor.googleauthorNak-Jung Kwon-
dc.contributor.googleauthorGun Min Kim-
dc.contributor.googleauthorJi Hyoung Kim-
dc.contributor.googleauthorMin Hwan Kim-
dc.contributor.googleauthorMin Kyung Jeon-
dc.contributor.googleauthorSangwoo Kim-
dc.contributor.googleauthorJoohyuk Sohn-
dc.identifier.doi10.1038/s42003-021-01973-x-
dc.contributor.localIdA00198-
dc.contributor.localIdA00287-
dc.contributor.localIdA00482-
dc.contributor.localIdA00524-
dc.contributor.localIdA00658-
dc.contributor.localIdA00984-
dc.contributor.localIdA00999-
dc.contributor.localIdA01475-
dc.contributor.localIdA01524-
dc.contributor.localIdA01753-
dc.contributor.localIdA01823-
dc.contributor.localIdA01995-
dc.contributor.localIdA03369-
dc.contributor.localIdA05978-
dc.contributor.localIdA05420-
dc.relation.journalcodeJ03836-
dc.identifier.eissn2399-3642-
dc.identifier.pmid33837242-
dc.contributor.alternativeNameKoo, Ja Seung-
dc.contributor.affiliatedAuthor구자승-
dc.contributor.affiliatedAuthor김건민-
dc.contributor.affiliatedAuthor김민환-
dc.contributor.affiliatedAuthor김상우-
dc.contributor.affiliatedAuthor김승일-
dc.contributor.affiliatedAuthor김지예-
dc.contributor.affiliatedAuthor김지형-
dc.contributor.affiliatedAuthor박병우-
dc.contributor.affiliatedAuthor박세호-
dc.contributor.affiliatedAuthor박형석-
dc.contributor.affiliatedAuthor백순명-
dc.contributor.affiliatedAuthor손주혁-
dc.contributor.affiliatedAuthor임선민-
dc.contributor.affiliatedAuthor전민경-
dc.contributor.affiliatedAuthor조영업-
dc.citation.volume4-
dc.citation.number1-
dc.citation.startPage449-
dc.identifier.bibliographicCitationCOMMUNICATIONS BIOLOGY, Vol.4(1) : 449, 2021-04-
Appears in Collections:
1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Biomedical Systems Informatics (의생명시스템정보학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers

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