SPATC1L
Overview
SPATC1L (Spermatogenesis And Centriole Associated 1 Like) is a candidate tumor suppressor gene identified through epigenetic silencing analysis in muscle-invasive bladder cancer (MIBC). It was identified in the TCGA 2017 comprehensive MIBC study as one of several novel genes silenced by methylation in a substantial fraction of tumors, suggesting a potential functional contribution to bladder cancer pathogenesis.
Alterations observed in the corpus
- Epigenetically silenced in 19% of MIBC tumors in the TCGA 412-tumor cohort; candidate functional contributor and potential therapeutic-vulnerability biomarker alongside LXN, PARP6, and NAPRT PMID:28988769.
Cancer types (linked)
- BLCA (Bladder Urothelial Carcinoma) — Epigenetic silencing (methylation) in 19% of MIBC (n=412 TCGA cohort); identified as a novel candidate tumor suppressor hit PMID:28988769.
Co-occurrence and mutual exclusivity
- Co-identified with other epigenetically silenced novel candidate genes LXN (27%), PARP6 (26%), and NAPRT (13%) in MIBC PMID:28988769.
Therapeutic relevance
- Epigenetic silencing raises potential for demethylating agent sensitivity; functional role in MIBC not yet validated in preclinical models PMID:28988769.
Open questions
- Functional role of SPATC1L in bladder cancer biology is uncharacterized; whether epigenetic silencing confers growth advantage or is a passenger event requires experimental validation PMID:28988769.
Sources
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