{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360565166140031616.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1016/j.trsl.2015.09.003"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S1931524415003060?httpAccept=text/xml"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S1931524415003060?httpAccept=text/plain"}},{"identifier":{"@type":"PMID","@value":"26434753"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Droplet digital polymerase chain reaction assay for screening of ESR1 mutations in 325 breast cancer specimens"}],"description":[{"notation":[{"@value":"Droplet digital polymerase chain reaction (ddPCR), which could perform thousands of PCRs on a nanoliter scale simultaneously, would be an attractive method to massive parallel sequencing for identifying and studying the significance of low-frequency rare mutations. Recent evidence has shown that the key potential mechanisms of the failure of aromatase inhibitors-based therapy involve identifying activating mutations affecting the ligand-binding domain of the ESR1 gene. Therefore, the detection of ESR1 mutations may be useful as a biomarker predicting an effect of the treatment. We aimed to develop a ddPCR-based method for the sensitive detection of ESR1 mutations in 325 breast cancer specimens, in which 270 primary and 55 estrogen receptor-positive (ER+) metastatic breast cancer (MBC) specimens. Our ddPCR assay could detect the ESR1 mutant molecules with low concentration of 0.25 copies/μL. According to the selected cutoff, ESR1 mutations occurred in 7 (2.5%) of 270 primary breast cancer specimens and in 11 (20%) of 55 ER+ MBC specimens. Among the 11 MBC specimens, 5 specimens (45.5%) had the most common ESR1 mutation, Y537S, 4 specimens (36.3%) each had D538G, Y537N, and Y537C. Interestingly, 2 patients had 2 ESR1 mutations, Y537N/D538G and Y537S/Y537C, and 2 patients had 3 ESR1 mutations, Y537S/Y537N/D538G. Biopsy was performed in heterochrony in 8 women twice. In 8 women, 4 women had primary breast cancer and MBC specimens and 4 women had 2 specimens when treatment was failure. Four of these 8 women acquired ESR1 mutation, whereas no ESR1 mutation could be identified at first biopsy. ddPCR technique could be a promising tool for the next-generation sequencing-free precise detection of ESR1 mutations in endocrine therapy resistant cases and may assist in determining the treatment strategy."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380566394319820551","@type":"Researcher","foaf:name":[{"@value":"Takashi Takeshita"}]},{"@id":"https://cir.nii.ac.jp/crid/1380566394319820549","@type":"Researcher","foaf:name":[{"@value":"Yutaka Yamamoto"}]},{"@id":"https://cir.nii.ac.jp/crid/1380566394319820547","@type":"Researcher","foaf:name":[{"@value":"Mutsuko Yamamoto-Ibusuki"}]},{"@id":"https://cir.nii.ac.jp/crid/1380566394319820545","@type":"Researcher","foaf:name":[{"@value":"Toko Inao"}]},{"@id":"https://cir.nii.ac.jp/crid/1380566394319820548","@type":"Researcher","foaf:name":[{"@value":"Aiko Sueta"}]},{"@id":"https://cir.nii.ac.jp/crid/1380566394319820550","@type":"Researcher","foaf:name":[{"@value":"Saori Fujiwara"}]},{"@id":"https://cir.nii.ac.jp/crid/1030566608901402371","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"80642561"},{"@type":"NRID","@value":"1000080642561"},{"@type":"NRID","@value":"9000002440195"},{"@type":"NRID","@value":"9000252855493"}],"foaf:name":[{"@value":"Yoko Omoto"}]},{"@id":"https://cir.nii.ac.jp/crid/1380566394319820544","@type":"Researcher","foaf:name":[{"@value":"Hirotaka Iwase"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"19315244"}],"prism:publicationName":[{"@value":"Translational Research"}],"dc:publisher":[{"@value":"Elsevier BV"}],"prism:publicationDate":"2015-12","prism:volume":"166","prism:number":"6","prism:startingPage":"540","prism:endingPage":"553.e2"},"reviewed":"false","dcterms:accessRights":"http://purl.org/coar/access_right/c_abf2","dc:rights":["https://www.elsevier.com/tdm/userlicense/1.0/"],"url":[{"@id":"https://api.elsevier.com/content/article/PII:S1931524415003060?httpAccept=text/xml"},{"@id":"https://api.elsevier.com/content/article/PII:S1931524415003060?httpAccept=text/plain"}],"createdAt":"2015-09-14","modifiedAt":"2022-07-18","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Adult","dc:title":"Adult"},{"@id":"https://cir.nii.ac.jp/all?q=Aged,%2080%20and%20over","dc:title":"Aged, 80 and over"},{"@id":"https://cir.nii.ac.jp/all?q=Estrogen%20Receptor%20alpha","dc:title":"Estrogen Receptor alpha"},{"@id":"https://cir.nii.ac.jp/all?q=Breast%20Neoplasms","dc:title":"Breast Neoplasms"},{"@id":"https://cir.nii.ac.jp/all?q=Middle%20Aged","dc:title":"Middle Aged"},{"@id":"https://cir.nii.ac.jp/all?q=Polymerase%20Chain%20Reaction","dc:title":"Polymerase Chain Reaction"},{"@id":"https://cir.nii.ac.jp/all?q=Mutation","dc:title":"Mutation"},{"@id":"https://cir.nii.ac.jp/all?q=Humans","dc:title":"Humans"},{"@id":"https://cir.nii.ac.jp/all?q=Female","dc:title":"Female"},{"@id":"https://cir.nii.ac.jp/all?q=Neoplasm%20Metastasis","dc:title":"Neoplasm Metastasis"},{"@id":"https://cir.nii.ac.jp/all?q=Aged","dc:title":"Aged"}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1040000781852100352","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"15K10057"},{"@type":"JGN","@value":"JP15K10057"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K10057/"}],"notation":[{"@language":"ja","@value":"転移乳癌に対するエストロゲン付加療法のメカニズム解析"},{"@language":"en","@value":"Mechanism analysis of estrogen addition therapy for metastatic breast 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