Changes

==Gene Overview==

==Gene Overview==

The protein encoded by RUNX1 can bind the protein encoded by CBFB to form "Core Binding Factor", a hetero-dimeric transcription factor, which can bind to DNA as a monomer and through the Runt domain within the Runx1 protein.  Runx1 protein is essential for hemopoietic stem cell formation and is important for the differentiation of lymphoid, myeloid and megakaryocytic cell lineages (2).  Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia.  Alterations of RUNX1 are considered "secondary driver mutations" (disease progression) in sporadic leukemias (2), but germline RUNX1 mutations contribute a lifetime risk of myeloid malignancy of about 44% (2).  RUNX1 mutations (loss of function or decreased function) have been associated with decreased P53 activity and increased DNA repair defects (2).

The protein encoded by RUNX1 can bind the protein encoded by CBFB to form "Core Binding Factor", a hetero-dimeric transcription factor, which can bind to DNA as a monomer and through the Runt domain within the Runx1 protein.  Runx1 protein is essential for hemopoietic stem cell formation and is important for the differentiation of lymphoid, myeloid and megakaryocytic cell lineages (2).  Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia.  Alterations of RUNX1 are considered "secondary driver mutations" (disease progression) in sporadic leukemias (2), but germline RUNX1 mutations contribute a lifetime risk of myeloid malignancy of about 44% (2).  RUNX1 mutations (loss of function or decreased function) have been associated with decreased P53 activity and increased DNA repair defects and increased inflammation (2).

==Common Alteration Types==

==Common Alteration Types==