BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Leukemia, Myelocytic, Acute ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762622506
rs762622506
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE A search for the second hit which led to the development of MDS and later AML in this individual revealed the PHF6 gene variant (exon9:c.872G > A:p.G291E; NM_001015877), BCORL1 (exon3:c.1111A > C:p.T371P; NM_001184772) and BCOR gene variant (exon4:c.2076dupT:p.P693fs; NM_001123383), which appear to be very likely second hits participating in the progression to myeloid malignancy. 30083851 2018