RAD21
Overview
RAD21 encodes a core structural component of the cohesin complex, which mediates sister-chromatid cohesion and plays roles in DNA repair and transcriptional regulation. Recurrent loss-of-function mutations in RAD21 and other cohesin subunits (SMC1A, SMC3, STAG2) have been identified in acute myeloid leukemia (AML), implicating cohesin dysfunction in myeloid transformation.
Alterations observed in the corpus
- RAD21 is a recurrent cohesin-complex gene mutated in AML (13% combined cohesin prevalence alongside SMC1A, SMC3, and STAG2) PMID:23634996
- RAD21 mutations in the chromatin-spliceosome AML subgroup; their effect is modified by co-occurring DNMT3A mutations in a 1540-patient AML genomic study PMID:27276561.
Cancer types (linked)
- AML: cohesin mutations including RAD21 collectively present in ~13% of AML cases; mutually exclusive of certain epigenetic modifier mutations PMID:23634996
Co-occurrence and mutual exclusivity
- Co-mutated with other cohesin subunits (SMC1A, SMC3, STAG2) in AML; collectively form a mutual-exclusivity set vs. ASXL1 and other epigenetic modifiers PMID:23634996
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus; cohesin-deficient AML may have altered sensitivity to certain DNA-damaging agents.
Open questions
- The exact mutation types (missense vs. truncating) and their functional impact in RAD21-mutant AML are not fully characterized in this cohort.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:27276561
This page was processed by entity-page-writer on 2026-05-15.