− | The protein encoded by ''RUNX1'' can bind the protein encoded by ''CBFB'' to form "Core Binding Factor", a hetero-dimeric transcription factor which regulates a number of genes responsible for hematopoiesis and osteogenesis [2]. Runx1 protein can bind to DNA as a monomer through the Runt domain within the Runx1 protein. ''RUNX1'' is the most frequent target for chromosomal translocation in leukemia [1]. Alterations of ''RUNX1'' are typically loss of function or decreased function, and 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]. ''RUNX1'' mutations are associated with gene mutations in ''ASXL1'', ''MLLPTD'', and ''IDH1''/''IDH2'', but and are mutually exclusive with ''NPM1'' mutations [3]. Non-complex ''RUNX1'' mutations were found to be associated with resistance to chemotherapy, and decreased disease free survival (DFS), event free survival (EFS) and overall survival (OS) [3]. | + | The protein encoded by ''RUNX1'' can bind the protein encoded by ''CBFB'' to form "Core Binding Factor", a hetero-dimeric transcription factor which regulates a number of genes responsible for hematopoiesis and osteogenesis [2]. Runx1 protein can bind to DNA as a monomer through the Runt domain within the Runx1 protein. ''RUNX1'' is the most frequent target for chromosomal translocation in leukemia [1]. Alterations of ''RUNX1'' are typically loss of function or decreased function, and 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]. ''RUNX1'' mutations are associated with gene mutations in ''ASXL1'', ''MLLPTD'', and ''IDH1''/''IDH2'', but and are mutually exclusive with ''NPM1'' mutations [3]. Non-complex ''RUNX1'' mutations were found to be associated with resistance to chemotherapy, decreased disease free survival (DFS), event free survival (EFS) and overall survival (OS) [3]. |