دورية أكاديمية
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations
| العنوان: | Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations |
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| المؤلفون: | Li, Yvonne Y, Chung, Grace T. Y., Lui, Vivian W. Y., To, Ka-Fai, Ma, Brigette B. Y., Chow, Chit, Woo, John K, S., Yip, Kevin Y., Seo, Jeongsun, Hui, Edwin P., Mak, Michael K. F., Rusan, Maria, Chau, Nicole G., Or, Yvonne Y. Y., Law, Marcus H. N., Law, Peggy P. Y., Liu, Zoey W. Y., Ngan, Hoi-Lam, Hau, Pok-Man, Verhoeft, Krista R., Poon, Peony H. Y., Yoo, Seong-Keun, Shin, Jong-Yeon, Lee, Sau-Dan, Lun, Samantha W. M., Jia, Lin, Chan, Anthony W. H., Chan, Jason Y. K., Lai, Paul B. S., Fung, Choi-Yi, Hung, Suet-Ting, Wang, Lin, Chang, Ann Margaret V., Chiosea, Simion I., Hedberg, Matthew L., Tsao, Sai-Wah, van Hasselt, Andrew C., Chan, Anthony T. C., Grandis, Jennifer R., Hammerman, Peter S., Lo, Kwok-Wai |
| المصدر: | Nature Communications ; volume 8, issue 1 ; ISSN 2041-1723 |
| بيانات النشر: | Springer Science and Business Media LLC |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary |
| الوصف: | Nasopharyngeal carcinoma (NPC) is an aggressive head and neck cancer characterized by Epstein-Barr virus (EBV) infection and dense lymphocyte infiltration. The scarcity of NPC genomic data hinders the understanding of NPC biology, disease progression and rational therapy design. Here we performed whole-exome sequencing (WES) on 111 micro-dissected EBV-positive NPCs, with 15 cases subjected to further whole-genome sequencing (WGS), to determine its mutational landscape. We identified enrichment for genomic aberrations of multiple negative regulators of the NF-κB pathway, including CYLD , TRAF 3, NFKBIA and NLRC5, in a total of 41% of cases. Functional analysis confirmed inactivating CYLD mutations as drivers for NPC cell growth. The EBV oncoprotein latent membrane protein 1 (LMP1) functions to constitutively activate NF-κB signalling, and we observed mutual exclusivity among tumours with somatic NF-κB pathway aberrations and LMP1-overexpression, suggesting that NF-κB activation is selected for by both somatic and viral events during NPC pathogenesis. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1038/ncomms14121 |
| الإتاحة: | https://doi.org/10.1038/ncomms14121Test https://www.nature.com/articles/ncomms14121.pdfTest https://www.nature.com/articles/ncomms14121Test |
| حقوق: | https://creativecommons.org/licenses/by/4.0Test ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: | edsbas.A999F632 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ncomms14121 |
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