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t(1;2)(p13;q37) COL6A3/CSF1

Written08-2018Jean-Loup Huret, Philippe Dessen

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Atlas_Id 104293
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

Clinics and Pathology

Disease Soft Tissues: Diffuse-type giant cell tumor

Disease Soft Tissues: Localized giant cell tumor of tendon sheath

Genes involved and Proteins

Gene NameCOL6A3
Location 2q37.3

Gene NameCSF1
Location 1p13.3


A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells
West RB, Rubin BP, Miller MA, Subramanian S, Kaygusuz G, Montgomery K, Zhu S, Marinelli RJ, De Luca A, Downs-Kelly E, Goldblum JR, Corless CL, Brown PO, Gilks CB, Nielsen TO, Huntsman D, van de Rijn M
Proc Natl Acad Sci U S A 2006 Jan 17;103(3):690-5
PMID 16407111

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;2)(p13;q37) COL6A3/CSF1

External links

Mitelman database t(1;2)(p13;q37) [Fusion]     t(1;2)(p13;q37) [Cytogenetics Case]
COSMIC[ COL6A3 ]   [ CSF1 ]
Disease databaset(1;2)(p13;q37) COL6A3/CSF1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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indexed on : Mon Jul 13 11:04:44 CEST 2020

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