ESPL1
Overview
ESPL1 encodes separase, a cysteine protease that cleaves the cohesin subunit SCC1/RAD21 to enable sister-chromatid separation during anaphase. As a critical regulator of chromosome segregation, somatic mutation of ESPL1 in bladder TCC contributes to a broader pattern of sister chromatid cohesion and segregation (SCCS) pathway disruption in that cancer type.
Alterations observed in the corpus
- Significantly mutated in 6% of bladder TCC tumors (whole-exome sequencing of 99 cases); encodes separase that cleaves cohesin during chromosome segregation PMID:24121792
Cancer types (linked)
- BLCA: somatic mutation in 6%; part of a 32% SCCS-pathway alteration burden that makes bladder cancer the first solid tumor type with a predominant SCCS alteration burden PMID:24121792
Co-occurrence and mutual exclusivity
- Co-occurs with mutations in STAG2, NIPBL, SMC1A, SMC3 as part of the cohesin/SCCS pathway alteration set in bladder TCC PMID:24121792
Therapeutic relevance
- SCCS pathway disruption (32% of bladder TCC) is proposed as a potential therapeutic vulnerability; direct ESPL1-targeting strategies not described in the current corpus.
Open questions
- Whether ESPL1 mutations are driver events or passengers in bladder TCC, and whether they contribute to the aneuploidy phenotype, has not been functionally tested.
Sources
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