Nature genetics, 2014-08, Vol.46 (8), p.866-871
2014
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- Autor(en) / Beteiligte
- Titel
- The genomic landscape of nasopharyngeal carcinoma
- Ist Teil von
- Nature genetics, 2014-08, Vol.46 (8), p.866-871
- Ort / Verlag
- New York: Nature Publishing Group US
- Erscheinungsjahr
- 2014
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- De-Chen Lin and colleagues report whole-exome sequencing, targeted sequencing and SNP array analysis of 128 cases of nasopharyngeal carcinoma (NPC), a tumor type connected to Epstein-Barr virus infection. Their results identify a distinct mutational signature with nine significantly mutated genes and mutations enriched in cellular processes, including chromatin modification and autophagy. Nasopharyngeal carcinoma (NPC) has extremely skewed ethnic and geographic distributions, is poorly understood at the genetic level and is in need of effective therapeutic approaches. Here we determined the mutational landscape of 128 cases with NPC using whole-exome and targeted deep sequencing, as well as SNP array analysis. These approaches revealed a distinct mutational signature and nine significantly mutated genes, many of which have not been implicated previously in NPC. Notably, integrated analysis showed enrichment of genetic lesions affecting several important cellular processes and pathways, including chromatin modification, ERBB-PI3K signaling and autophagy machinery. Further functional studies suggested the biological relevance of these lesions to the NPC malignant phenotype. In addition, we uncovered a number of new druggable candidates because of their genomic alterations. Together our study provides a molecular basis for a comprehensive understanding of, and exploring new therapies for, NPC.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng.3006Titel-ID: cdi_proquest_miscellaneous_1549632686
- Format
- –
- Schlagworte
- 13/106, 13/109, 13/44, 13/89, 13/95, 45/23, 631/208/1516, 692/699/67/1536, Agriculture, Animal Genetics and Genomics, Animals, Autophagy - genetics, Biomedicine, Cancer, Cancer Research, Carcinoma, Cell adhesion & migration, Cell Line, Cell Line, Tumor, Censuses, ErbB Receptors - genetics, Exome, Gene expression, Gene Function, Gene mutations, Genetic aspects, Genomes, Genomics - methods, Geographical distribution, Health aspects, HEK293 Cells, Heterografts, Human Genetics, Humans, Identification and classification, Lesions, letter, Male, Mice, Inbred NOD, Mice, SCID, Multivariate analysis, Mutation, Nasopharyngeal cancer, Nasopharyngeal Carcinoma, Nasopharyngeal Neoplasms - enzymology, Nasopharyngeal Neoplasms - genetics, Nasopharyngeal Neoplasms - pathology, Phenotype, Phosphatidylinositol 3-Kinases - genetics, Polymorphism, Single Nucleotide, Risk factors, Signal Transduction - genetics, Single nucleotide polymorphisms, Tumors