t(4;22)(q31;q12) EWSR1/SMARCA5

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Written08-2018Jean-Loup Huret, Philippe Dessen

(Note : for Links provided by Atlas : click)

1. Identity

Atlas_Id 106312
Phylum Soft Tissues: Soft Tissues::
WHO/OMS Classification Soft Tissues
Note Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation, go to  How to contribute

2. Clinics and Pathology

Disease Soft Tissues: Ewing sarcoma

3. Genes involved and Proteins

Gene NameEWSR1
Location 22q12.2

Gene NameSMARCA5
Location 4q31.21

4. Bibliography

A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor
Sumegi J, Nishio J, Nelson M, Frayer RW, Perry D, Bridge JA
Mod Pathol 2011 Mar;24(3):333-42
PMID 21113140
 


5. Translocations implicated (Data extracted from papers in the Atlas)

 t(4;22)(q31;q12) EWSR1/SMARCA5

6. External links

Mitelman database t(4;22)(q31;q12) [CaseList]     t(4;22)(q31;q12) [Transloc - MCList]   EWSR1/SMARCA5 Fusion - MCList]
COSMIC[ EWSR1 ]   [ SMARCA5 ]
arrayMap arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(4;22)(q31;q12) EWSR1/SMARCA5
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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indexed on : Wed Nov 28 16:39:40 CET 2018

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