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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 |
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Haematological malignancies cancer susceptibility | ETV6 | Clare Turnbull reviewed ETV6 |