TY - JOUR
T1 - Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney
AU - Ueno-Yokohata, Hitomi
AU - Okita, Hajime
AU - Nakasato, Keiko
AU - Akimoto, Shingo
AU - Hata, Jun Ichi
AU - Koshinaga, Tsugumichi
AU - Fukuzawa, Masahiro
AU - Kiyokawa, Nobutaka
N1 - Funding Information:
This work was supported in part by the Grant from the National Center for Child Health and Development (24-4, 26-20), grants from the 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), and a research program of the Project for Development of Innovative Research on Cancer Therapeutics (11035153) and Tailor-Made Medical Treatment Program (BioBankJapan), Ministry of Education, Culture, Sports, Science and Technology of Japan. The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.
Publisher Copyright:
© 2015 Nature America, Inc. All rights reserved.
PY - 2015/8/30
Y1 - 2015/8/30
N2 - 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.
AB - 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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U2 - 10.1038/ng.3338
DO - 10.1038/ng.3338
M3 - Article
C2 - 26098867
AN - SCOPUS:84938292803
SN - 1061-4036
VL - 47
SP - 861
EP - 863
JO - Nature genetics
JF - Nature genetics
IS - 8
ER -