EWSR1

(redirected from Ewing sarcoma breakpoint region 1)

EWSR1

A gene on chromosome 22q12.2 that encodes a multifunctional protein involved in various processes, including gene expression, cell signalling, and RNA processing and transport.

Molecular pathology
EWSR1 mutations— the (11;22)(q24;q12) translocation—cause Ewing sarcoma, as well as neuroectodermal and various other tumours.
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Importantly, these tumors show frequent and specific rearrangement of the Ewing sarcoma breakpoint region 1 (EWSR1) gene located on chromosome 22 [5, 6].
(24) The EWSR1 gene, located at 22q12.2, encodes the eponymous Ewing sarcoma breakpoint region 1 (EWSR1) protein, which is a member of the TET family of transcription factors.
(2) In addition, most CCS show rearrangement of the EWSR1 (Ewing sarcoma breakpoint region 1) locus, which in most cases leads to fusion of the EWSR1 gene with the activating transcription factor-1 gene (ATFT) in a recurrent translocation, t(12;22)(q13;q12).
A dual color assay using the break apart translocation probe EWSR1 (Ewing sarcoma breakpoint region 1) was performed to look for a rearrangement of the EWSR1 locus at 22q12 because in abnormalities of EWS, translocations are frequently found in Ewing sarcoma/primitive neuroectodermal tumor with the translocation partner typically FLI1, 11Q24, or ERG, 21Q22.3.