Journal
NATURE GENETICS
Volume 47, Issue 8, Pages 861-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3338
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Funding
- National Center for Child Health and Development [24-4, 26-20]
- Program for Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (NIBIO) [10-41, 10-42, 10-43, 10-44, 10-45]
- research program of the Project for Development of Innovative Research on Cancer Therapeutics [11035153]
- Tailor-Made Medical Treatment Program (BioBankJapan), Ministry of Education, Culture, Sports, Science and Technology of Japan
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Clear cell sarcoma of the kidney (CCSK) is one of the major pediatric renal neoplasms, but its associated genetic abnormalities are largely unknown. We identified internal tandem duplications in the BCOR gene (BCL6 corepressor) affecting the C terminus in 100% (20/20) of CCSK tumors but in none (0/193) of the other pediatric renal tumors. CCSK tumors expressed only an aberrant BCOR allele, indicating a close correlation between BCOR aberration and CCSK tumorigenesis.
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