Changes

==Common Alteration Types==

==Common Alteration Types==

''ETV6'' has been identified as a fusion partner in at least 30 chromosomal translocations [3, [http://atlasgeneticsoncology.org/Genes/ETV6ID38.html Atlas of Genetics and Cytogenetics in Oncology and Haematology], [http://www.omim.org/entry/600618 OMIM]].  In most translocations, the N-terminal PNT domain of ETV6 is fused to a partner gene and acts as an aggregator for other proteins for a variety of effects, including transcriptional repression (eg, EVT6-RUNX1) [1, 2] and constitutive activated tyrosine kinases (eg, ETV6-PDGFRB) [1]. A large number of simple substitution mutations have been found spread throughout the gene and these have been found in a large number of human malignancies at relatively low percentages ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC] and [http://www.cancerindex.org/geneweb/ETV6.htm see Cancer Index]).   

A large number of simple substitution mutations have been found spread throughout ''ETV6'' in a large number of human malignancies at relatively low percentages ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC] and [http://www.cancerindex.org/geneweb/ETV6.htm see Cancer Index]).   

ETV6/PDGFRB fusion

''ETV6'' has also been identified as a fusion partner in at least 30 chromosomal translocations [3, [http://atlasgeneticsoncology.org/Genes/ETV6ID38.html Atlas of Genetics and Cytogenetics in Oncology and Haematology], [http://www.omim.org/entry/600618 OMIM]].  These fusions include:

ETV6/MN1 fusion

- ETV6/PDGFRB

ETV6/AML1 fusion

- ETV6/MN1

ETV6/ARNT fusion

- ETV6/AML1

ETV6/MDS2 fusion

- ETV6/ARNT

ETV6/ABL2 fusion

- ETV6/MDS2

ETV6/PER1 fusion

- ETV6/ABL2

ETV6/NTRK3 fusion

- ETV6/PER1

ETV6/ACS2 fusion

- ETV6/NTRK3

ETV6/BTL fusion

- ETV6/ACS2

ETV6/JAK2 fusion

- ETV6/BTL

ETV6/RUNX1 fusion

 

- ETV6/RUNX1

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