Detection of somatic variants and EGFR mutations in cell-free DNA from non-small cell lung cancer patients by ultra-deep sequencing using the ion ampliseq cancer hotspot panel and droplet digital polymerase chain reaction
DC Field | Value | Language |
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dc.contributor.author | Sung, Jae Sook | - |
dc.contributor.author | Chong, Hyon Yong | - |
dc.contributor.author | Kwon, Nak-Jung | - |
dc.contributor.author | Kim, Hae Mi | - |
dc.contributor.author | Lee, Jong Won | - |
dc.contributor.author | Kim, Boyeon | - |
dc.contributor.author | Lee, Saet Byeol | - |
dc.contributor.author | Park, Chang Won | - |
dc.contributor.author | Choi, Jung Yoon | - |
dc.contributor.author | Chang, Won Jin | - |
dc.contributor.author | Choi, Yoon Ji | - |
dc.contributor.author | Lee, Sung Yong | - |
dc.contributor.author | Kang, Eun Joo | - |
dc.contributor.author | Park, Kyong Hwa | - |
dc.contributor.author | Kim, Yeul Hong | - |
dc.date.accessioned | 2021-09-02T22:01:20Z | - |
dc.date.available | 2021-09-02T22:01:20Z | - |
dc.date.created | 2021-06-16 | - |
dc.date.issued | 2017-12-05 | - |
dc.identifier.issn | 1949-2553 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/81213 | - |
dc.description.abstract | Highly sensitive genotyping assays can detect mutations in cell-free DNA (cfDNA) from cancer patients, reflecting the biology of each patient's cancer. Because circulating tumor DNA comprises a small, variable fraction of DNA circulating in the blood, sensitive parallel multiplexing tests are required to determine mutation profiles. We prospectively examined the clinical utility of ultra-deep sequencing analysis of cfDNA from 126 non-small cell lung cancer (NSCLC) patients using the Ion AmpliSeq Cancer Hotspot Panel v2 (ICP) and validated these findings with droplet digital polymerase chain reaction (ddPCR). ICP results were compared with tumor tissue genotyping (TTG) results and clinical outcomes. A total of 853 variants were detected, with a median of four variants per patient. Overall concordance of ICP and TTG analyses was 90% for EGFR exon 19 deletion and 88% for the L858R mutation. Of 34 patients with a well-defined EGFR activating mutation defined based on the results of ICP and TTG, 31 (81.6%) showed long-term disease control with EGFR TKI treatment. Of 56 patients treated with an EGFR tyrosine kinase inhibitor (TKI), the presence of the de novo T790M mutation was confirmed in 28 (50%). Presence of this de novo mutation did not have a negative effect on EGFR TKI treatment. Ultradeep sequencing analysis of cfDNA using ICP combined with confirmatory ddPCR was effective at defining driver genetic changes in NSCLC patients. Comprehensive analysis of tumor DNA and cfDNA can increase the specificity of molecular diagnosis, which could translate into tailored treatment. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | IMPACT JOURNALS LLC | - |
dc.subject | CIRCULATING TUMOR DNA | - |
dc.subject | METASTATIC BREAST-CANCER | - |
dc.subject | ACQUIRED-RESISTANCE | - |
dc.subject | PERIPHERAL-BLOOD | - |
dc.subject | KRAS MUTATIONS | - |
dc.subject | CHEMOTHERAPY | - |
dc.subject | GEFITINIB | - |
dc.subject | ERLOTINIB | - |
dc.subject | NSCLC | - |
dc.subject | EVOLUTION | - |
dc.title | Detection of somatic variants and EGFR mutations in cell-free DNA from non-small cell lung cancer patients by ultra-deep sequencing using the ion ampliseq cancer hotspot panel and droplet digital polymerase chain reaction | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Sung, Jae Sook | - |
dc.contributor.affiliatedAuthor | Choi, Yoon Ji | - |
dc.contributor.affiliatedAuthor | Kang, Eun Joo | - |
dc.contributor.affiliatedAuthor | Park, Kyong Hwa | - |
dc.contributor.affiliatedAuthor | Kim, Yeul Hong | - |
dc.identifier.doi | 10.18632/oncotarget.22456 | - |
dc.identifier.scopusid | 2-s2.0-85036610343 | - |
dc.identifier.wosid | 000419534900076 | - |
dc.identifier.bibliographicCitation | ONCOTARGET, v.8, no.63, pp.106901 - 106912 | - |
dc.relation.isPartOf | ONCOTARGET | - |
dc.citation.title | ONCOTARGET | - |
dc.citation.volume | 8 | - |
dc.citation.number | 63 | - |
dc.citation.startPage | 106901 | - |
dc.citation.endPage | 106912 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Oncology | - |
dc.relation.journalResearchArea | Cell Biology | - |
dc.relation.journalWebOfScienceCategory | Oncology | - |
dc.relation.journalWebOfScienceCategory | Cell Biology | - |
dc.subject.keywordPlus | CIRCULATING TUMOR DNA | - |
dc.subject.keywordPlus | METASTATIC BREAST-CANCER | - |
dc.subject.keywordPlus | ACQUIRED-RESISTANCE | - |
dc.subject.keywordPlus | PERIPHERAL-BLOOD | - |
dc.subject.keywordPlus | KRAS MUTATIONS | - |
dc.subject.keywordPlus | CHEMOTHERAPY | - |
dc.subject.keywordPlus | GEFITINIB | - |
dc.subject.keywordPlus | ERLOTINIB | - |
dc.subject.keywordPlus | NSCLC | - |
dc.subject.keywordPlus | EVOLUTION | - |
dc.subject.keywordAuthor | non-small-cell lung carcinoma | - |
dc.subject.keywordAuthor | multiplex polymerase chain reaction | - |
dc.subject.keywordAuthor | missense mutation | - |
dc.subject.keywordAuthor | cell-free DNA | - |
dc.subject.keywordAuthor | molecular targeted therapy | - |
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