chromosomal translocation t(3;8)(p14.2;q24.1) (renal cell carcinoma)

Associated with renal cell carcinoma. Translocation of RNF139 with FHIT. The result is RNF139 fused to FHIT & disrupted within the sterol-sensing domain. In contrast, the FHIT coding region is maintained & expressed. Sporadic renal cell carcinoma, where an acquired mutation in RNF139 results in the duplication of 12 nucleotides in the 5' UTR, has also been identified.

Properties

GENERAL: chromosomal translocation FORM: t(3;8)(p14.2;q24.1) LOCUS: human chromosome-3 Q14.2 human chromosome-8 Q24.1 PATHOLOGY: rhabdomyosarcoma

References

OMIM :accession 144700