期刊
NATURE BIOTECHNOLOGY
卷 27, 期 11, 页码 1005-U73出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nbt.1584
关键词
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资金
- National Institutes of Health NIH [U01 CA111275, DOD W81XWH-09-2-0014]
- National Institutes of Health Cancer Biology Training [CA009676-18]
- University of Michigan
- Doris Duke Foundation
- American Cancer Society
Cancer genomes contain many aberrant gene fusions-a few that drive disease and many more that are nonspecific passengers. We developed an algorithm (the concept signature or 'ConSig' score) that nominates biologically important fusions from high-throughput data by assessing their association with 'molecular concepts' characteristic of cancer genes, including molecular interactions, pathways and functional annotations. Copy number data supported candidate fusions and suggested a breakpoint principle for intragenic copy number aberrations in fusion partners. By analyzing lung cancer transcriptome sequencing and genomic data, we identified a novel R3HDM2-NFE2 fusion in the H1792 cell line. Lung tissue microarrays revealed 2 of 76 lung cancer patients with genomic rearrangement at the NFE2 locus, suggesting recurrence. Knockdown of NFE2 decreased proliferation and invasion of H1792 cells. Together, these results present a systematic analysis of gene fusions in cancer and describe key characteristics that assist in new fusion discovery.
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