Our data supported these findings as CDKN2A expression was significantly lower in the SF3B1-
mutated cases (p=0.043).
Conclusions : In summary, alternative splicing of ZEB1 and BRD9 in SF3B1-mutated subset #2
CLL cases may lead to altered BAF complex composition and subsequent gene suppression
(including CDKN2A) via ZBTB7A. In addition, the scaRNA AL359771.2 is suggested to target the
splice site recognition of the included exon of BRD9. Together, these findings showcase
complex interlinked events related to SF3B1 mutations in CLL connected with BAF complex
function.
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