Journal
NATURE GENETICS
Volume 47, Issue 9, Pages 1011-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3356
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Funding
- Dermatology Foundation
- Yale Specialized Program of Research Excellence (SPORE) in Skin Cancer Career Development Award
- Yale SPORE in Skin Cancer [P50 CA121974]
- Agency for Science, Technology and Research, Singapore
- US National Institutes of Health (NIH) [RO1 CA102703]
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Cutaneous T cell lymphoma (CTCL) is a non-Hodgkin lymphoma of skin-homing T lymphocytes. We performed exome and whole-genome DNA sequencing and RNA sequencing on purified CTCL and matched normal cells. The results implicate mutations in 17 genes in CTCL pathogenesis, including genes involved in T cell activation and apoptosis, NF-kappa B signaling, chromatin remodeling and DNA damage response. CTCL is distinctive in that somatic copy number variants (SCNVs) comprise 92% of all driver mutations (mean of 11.8 pathogenic SCNVs versus 1.0 somatic single-nucleotide variant per CTCL). These findings have implications for new therapeutics.
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