NCIt definition : Human ETV6 wild-type allele is located in the vicinity of 12p13 and is approximately
246 kb in length. This allele, which encodes transcription factor ETV6 protein, is
involved in the repression of transcription by RNA polymerase II. Several malignancies,
particularly leukemias, are linked to chromosomal translocations of this gene.;
NCIt note : The product of the ETV6 gene binds to the DNA sequence 5'- CCGGAAGT-3' (GeneCards).
Chronic myelomonocytic leukemia is linked to translocations t(5;12)(q33;p13), and
t(10;12)(q24;p13) involving this gene. Chronic myelogenous leukemia is linked with
translocation t(9;12)(q34;p13) of this gene. Acute lymphocytic leukemia and B-cell
precursor acute lymphocytic leukemia, myelodysplasia and myeloproliferative disorders
are associated with multiple chromosomal translocations involving this gene. Acute
myeloid leukemia is linked with translocation (4;12)(q11-q12;p13) of this gene. Mutations
in this gene also are associated with congenital fibrosarcoma, congenital mesoblastic
nephroma and biphenotypic adult leukemia (Genatlas).;