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Clinical application of genomic profiling to find druggable targets for adolescent and young adult (AYA) cancer patients with metastasis

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dc.contributor.authorCha, Soojin-
dc.contributor.authorLee, Jeongeun-
dc.contributor.authorShin, Jong-Yeon-
dc.contributor.authorKim, Ji-Yeon-
dc.contributor.authorSim, Sung Hoon-
dc.contributor.authorKeam, Bhumsuk-
dc.contributor.authorKim, Tae Min-
dc.contributor.authorKim, Dong-Wan-
dc.contributor.authorHeo, Dae Seog-
dc.contributor.authorLee, Se-Hoon-
dc.contributor.authorKim, Jong-Il-
dc.date.accessioned2017-02-08T02:41:42Z-
dc.date.available2017-02-08T02:41:42Z-
dc.date.created2018-08-27-
dc.date.created2018-08-27-
dc.date.issued2016-02-
dc.identifier.citationBMC Cancer, Vol.16, p. 170-
dc.identifier.issn1471-2407-
dc.identifier.other47031-
dc.identifier.urihttps://hdl.handle.net/10371/100533-
dc.descriptionThis article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and
reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made.
ko_KR
dc.description.abstractBackground: Although adolescent and young adult (AYA) cancers are characterized by biological features and clinical outcomes distinct from those of other age groups, the molecular profile of AYA cancers has not been well defined. In this study, we analyzed cancer genomes from rare types of metastatic AYA cancers to identify driving and/or druggable genetic alterations. Methods: Prospectively collected AYA tumor samples from seven different patients were analyzed using three different genomics platforms (whole-exome sequencing, whole-transcriptome sequencing or OncoScan (TM)). Using well-known bioinformatics tools (bwa, Picard, GATK, MuTect, and Somatic Indel Detector) and our annotation approach with open access databases (DAVID and DGIdb), we processed sequencing data and identified driving genetic alterations and their druggability. Results: The mutation frequencies of AYA cancers were lower than those of other adult cancers (median = 0.56), except for a germ cell tumor with hypermutation. We identified patient-specific genetic alterations in candidate driving genes: RASA2 and NF1 (prostate cancer), TP53 and CDKN2C (olfactory neuroblastoma), FAT1, NOTCH1, and SMAD4 (head and neck cancer), KRAS (urachal carcinoma), EML4-ALK (lung cancer), and MDM2 and PTEN (liposarcoma). We then suggested potential drugs for each patient according to his or her altered genes and related pathways. By comparing candidate driving genes between AYA cancers and those from all age groups for the same type of cancer, we identified different driving genes in prostate cancer and a germ cell tumor in AYAs compared with all age groups, whereas three common alterations (TP53, FAT1, and NOTCH1) in head and neck cancer were identified in both groups. Conclusion: We identified the patient-specific genetic alterations and druggability of seven rare types of AYA cancers using three genomics platforms. Additionally, genetic alterations in cancers from AYA and those from all age groups varied by cancer type.-
dc.language영어-
dc.language.isoenko_KR
dc.publisherBioMed Central-
dc.titleClinical application of genomic profiling to find druggable targets for adolescent and young adult (AYA) cancer patients with metastasis-
dc.typeArticle-
dc.contributor.AlternativeAuthor허대석-
dc.contributor.AlternativeAuthor김동완-
dc.contributor.AlternativeAuthor김종일-
dc.identifier.doi10.1186/s12885-016-2209-1-
dc.citation.journaltitleBMC Cancer-
dc.identifier.wosid000371667800003-
dc.identifier.scopusid2-s2.0-84978744467-
dc.language.rfc3066en-
dc.rights.holderCha et al.-
dc.date.updated2017-01-06T10:13:21Z-
dc.citation.startpage170-
dc.citation.volume16-
dc.identifier.sci000371667800003-
dc.description.isOpenAccessY-
dc.contributor.affiliatedAuthorKim, Dong-Wan-
dc.contributor.affiliatedAuthorHeo, Dae Seog-
dc.contributor.affiliatedAuthorKim, Jong-Il-
dc.type.docTypeArticle-
dc.description.journalClass1-
dc.subject.keywordPlusMUTATIONAL LANDSCAPE-
dc.subject.keywordPlusHEAD-
dc.subject.keywordPlusDISCOVERY-
dc.subject.keywordPlusLEUKEMIA-
dc.subject.keywordPlusREVEALS-
dc.subject.keywordPlusGENES-
dc.subject.keywordPlusTOOL-
dc.subject.keywordAuthorAdolescent and young adult (AYA) cancer-
dc.subject.keywordAuthorNext-generation sequencing (NGS)-
dc.subject.keywordAuthorWhole exome sequencing-
dc.subject.keywordAuthorPrecision medicine-
dc.subject.keywordAuthorGenomics-
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