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Abnormalities of Xp11.2 region have often been observed in papillary renal cell carcinomas and are sometimes the sole cytogenetic abnormality present. The transcription factor binding to IGHM enhancer 3 (TFE3) gene, which encodes a member of the helix-loop-helix family of transcription factors, is located in this critical region and can be fused to various other chromosomal regions by translocation. Known fusion partners are NONO (Xq12), PRCC (1q21), SFPQ (1p34), CLTC (17q23) and ASPSCR1 (17q25). The TFE3 (Xp11) Break probe is optimized to detect translocations involving the TFE3 gene region at Xp11.2 in a dual-color, break assay.
Sidhar et al, 1996, Hum Mol Genet, 5; 1333-1338.
Weterman et al, 1996, Proc Natl, Acad Sci, 93; 15294-15298.