SMC1A
Overview
SMC1A encodes structural maintenance of chromosomes protein 1A, a core ATPase subunit of the cohesin ring complex. The cohesin complex is essential for sister-chromatid cohesion, DNA damage repair, and regulation of gene expression. Recurrent mutations in SMC1A and other cohesin subunits (SMC3, RAD21, STAG2) occur in approximately 13% of AML cases, implicating cohesin dysfunction as a driver of myeloid leukemogenesis.
Alterations observed in the corpus
- SMC1A is a recurrent cohesin-complex gene mutated in AML (13% combined cohesin prevalence alongside SMC3, RAD21, and STAG2) PMID:23634996
- Cohesin subunit altered in 3% of transitional cell carcinoma; part of the 32% SCCS-pathway alteration burden defining bladder cancer as the first solid tumor with predominant cohesin lesions PMID:24121792
Cancer types (linked)
- AML: cohesin mutations including SMC1A are present in ~13% of AML cases; associated with a distinct mutual-exclusivity pattern relative to ASXL1 and other epigenetic modifiers PMID:23634996
Co-occurrence and mutual exclusivity
- SMC1A co-mutated with other cohesin subunits (SMC3, RAD21, STAG2) in AML; cohesin gene mutations are part of a mutual-exclusivity group vs. ASXL1 PMID:23634996
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus; cohesin-deficient AML may show altered sensitivity to topoisomerase inhibitors or other DNA-damaging agents.
Open questions
- Precise mutation types and frequencies for SMC1A specifically (vs. the combined cohesin group) are not individually reported in this study.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:24121792
This page was processed by crosslinker on 2026-05-09.