Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Haematological malignancies cancer susceptibility v2.28 UBA2 Sarah Leigh gene: UBA2 was added
gene: UBA2 was added to Haematological malignancies cancer susceptibility. Sources: Literature
Mode of inheritance for gene: UBA2 was set to Other
Publications for gene: UBA2 were set to 34982829
Phenotypes for gene: UBA2 were set to lymphoblastic leukemia
Review for gene: UBA2 was set to RED
Added comment: PMID:34982829 reports: for the first time to our knowledge, provided evidence of a UBA2 variant (somatic frameshift deletion) preceding the well-established initiating event ETV6-RUNX1. Further, we suggest the UBA2 deletion exerted a leukemia predisposing effect and that its essential role in Small Ubiquitin-like Modifier (SUMO) attachment (SUMOylation), regulating nearly all physiological and pathological cellular processes such as DNA-repair by nonhomologous end joining, may hold a mechanistic explanation for the predisposition.
.
Sources: Literature
Haematological malignancies cancer susceptibility ETV6 Clare Turnbull reviewed ETV6