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==Genomic Location==
==Genomic Location==
'''Cytoband:''' 8q21.3
'''Cytoband:''' 8q21.3 (previously located at 8q22, as represented in the name of one of the WHO disease categories of AML)
'''Genomic Coordinates:'''
'''Genomic Coordinates:'''
==Cancer Category/Type==
==Cancer Category/Type==
'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
'''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]'''
'''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_RUNX1::RUNX1T1_fusion Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]'''
The t(8;21)(q22;q22.1), resulting in fusion of ''RUNXT1'' and ''RUNX1'', is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% [5,7]. The t(8;21)(q22;q22.1) produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 (''RUNX1'') gene fused to the 3'-region of the ''RUNX1T1'' gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation.
The t(8;21)(q22;q22.1), resulting in fusion of ''RUNXT1'' and ''RUNX1'', is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% [5,7]. The t(8;21)(q22;q22.1) produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 (''RUNX1'') gene fused to the 3'-region of the ''RUNX1T1'' gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation.
==Common Alteration Types==
==Common Alteration Types==
'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML)]'''
'''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_RUNX1::RUNX1T1_fusion Acute Myeloid Leukemia (AML)]'''
The t(8;21)(q22;q22), resulting in RUNXT1-RUNX1 fusion, is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% [5,7].
The t(8;21)(q22;q22), resulting in RUNXT1-RUNX1 fusion, is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% [5,7].
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion
!Copy Number Loss!!Copy Number Gain!!LOH!!Loss-of-Function Mutation!!Gain-of-Function Mutation!!Translocation/Fusion
|-
|-
| || || || || || X
| || || || || ||X
|}
|}
==Internal Pages==
==Internal Pages==
'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
'''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]'''
'''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_RUNX1::RUNX1T1_fusion Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]'''
==External Links==
==External Links==
'''[https://www.ncbi.nlm.nih.gov/gene/862 RUNX1T1 by NCBI Gene]''' - general gene information and summaries
'''[https://www.ncbi.nlm.nih.gov/gene/862 RUNX1T1 by NCBI Gene]''' - general gene information and summaries
'''[https://databases.lovd.nl/shared/genes/RUNX1T1 ''RUNX1T1'' by LOVD(3)]''' - Leiden Open Variation Database
'''[http://www.omim.org/entry/133435 ''RUNX1T1'' by OMIM]''' - compendium of human genes and genetic phenotypes
'''[https://databases.lovd.nl/shared/genes/RUNX1T1 ''RUNX1T1'' by LOVD(3)]''' - Leiden Open Variation Database
'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=RUNX1T1 ''RUNX1T1'' by TICdb]''' - database of Translocation breakpoints In Cancer
'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=RUNX1T1 ''RUNX1T1'' by TICdb]''' - database of Translocation breakpoints In Cancer
8. Rossetti S, et al., (2004). The MTG proteins: chromatin repression players with a passion for networking. Genomics 84:1-9, PMID 15203199. DOI 10.1016/j.ygeno.2004.02.011.
8. Rossetti S, et al., (2004). The MTG proteins: chromatin repression players with a passion for networking. Genomics 84:1-9, PMID 15203199. DOI 10.1016/j.ygeno.2004.02.011.
== Notes ==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.
[[Category:Cancer Genes R]]
[[Category:Cancer Genes R]]