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|Ref Type||Journal Article|
|Authors||Ueno-Yokohata H, Okita H, Nakasato K, Akimoto S, Hata J, Koshinaga T, Fukuzawa M, Kiyokawa N|
|Title||Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney.|
|Abstract Text||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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|Gene||Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
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|BCOR mutant||kidney clear cell sarcoma||not applicable||N/A||Clinical Study||Emerging||In multiple clinical analyses, internal tandem duplications of the BCOR gene were consistently found in clear cell sarcoma of the kidney (PMID: 26098867, PMID: 26516930, PMID: 26573325, PMID: 26150234), suggesting that this may serve as a future diagnostic biomarker.||26150234 26098867 26516930 26573325|