Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney

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Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney

Ueno-Yokohata, Hitomi; Okita, Hajime; Nakasato, Keiko; Akimoto, Shingo; Hata, Jun-ichi; Koshinaga, Tsugumichi; Fukuzawa, Masahiro; Kiyokawa, Nobutaka

Nature genetics, 08/2015, Volume: 47, Issue: 8

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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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