ASXL2
Overview
ASXL2 (Additional Sex Combs Like 2) is a chromatin-binding protein in the Polycomb group family. It functions as an epigenetic regulator that modulates histone H2A ubiquitination via the Polycomb repressive deubiquitinase (PR-DUB) complex. In cancer, ASXL2 acts as a tumor suppressor, with predominantly inactivating mutations observed across multiple tumor types. It is a significantly mutated gene (SMG) in muscle-invasive bladder cancer (MIBC).
Alterations observed in the corpus
- Polycomb-group chromatin-modifier SMG in MIBC (TCGA, n=412) with predominantly inactivating mutations, co-listed with ASXL1 as a recurrently mutated epigenetic regulator PMID:28988769.
Cancer types (linked)
- BLCA — Identified as a significantly mutated gene (SMG) in the TCGA MIBC cohort of 412 chemotherapy-naive bladder urothelial carcinomas; predominantly inactivating mutations PMID:28988769.
Co-occurrence and mutual exclusivity
- Co-listed with ASXL1 as part of the Polycomb-group chromatin-modifier SMG cluster in MIBC PMID:28988769.
Therapeutic relevance
- Chromatin-modifier mutations are pervasive in MIBC, motivating HDAC inhibition with mocetinostat (Phase 2, NCT02236195) as a class-level therapeutic strategy PMID:28988769.
Open questions
- The specific mutation frequency of ASXL2 in MIBC was not individually reported; it was co-reported with ASXL1 as a chromatin-modifier SMG class PMID:28988769.
Sources
- PMID:28988769 — TCGA comprehensive molecular characterization of 412 MIBC tumors (Robertson et al., 2017).
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