http://purl.uniprot.org/citations/26434753 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/26434753 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.trsl.2015.09.003"xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/author | "Fujiwara S."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/author | "Yamamoto Y."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/author | "Takeshita T."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/author | "Iwase H."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/author | "Omoto Y."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/author | "Inao T."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/author | "Yamamoto-Ibusuki M."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/author | "Sueta A."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/name | "Transl Res"xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/pages | "540-553.e2"xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/title | "Droplet digital polymerase chain reaction assay for screening of ESR1 mutations in 325 breast cancer specimens."xsd:string |
http://purl.uniprot.org/citations/26434753 | http://purl.uniprot.org/core/volume | "166"xsd:string |
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