Changes

==Common Alteration Types==

==Common Alteration Types==

ETV6 has been identified as a fusion partner in at least 30 chromosomal translocation genes [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 Cancer Index]).   

ETV6 has been identified as a fusion partner in at least 30 chromosomal translocation genes [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]).   

ETV6/PDGFRB fusion

ETV6/PDGFRB fusion