ANKRD62
Overview
ANKRD62 (Ankyrin Repeat Domain 62) is a protein-coding gene of uncertain function. It encodes an ankyrin-repeat-containing protein, a domain family frequently involved in protein-protein interactions. Its role in cancer biology has not been extensively characterized; it has emerged as a recurrently observed candidate in clonal evolution studies of urothelial carcinoma (UC).
Alterations observed in the corpus
- Sub-clonal ANKRD62 mutation present in the WCM117 untreated TURBT primary (urothelial carcinoma) became enriched in chemotherapy-treated metastatic lesions, representing an early founder signal that survived chemotherapy selection in a 12-sample rapid-autopsy case PMID:27749842.
Cancer types (linked)
- BLCA: Observed as a sub-clonal mutation in a UC rapid-autopsy case, enriched after platinum-based chemotherapy PMID:27749842.
Co-occurrence and mutual exclusivity
- Co-occurs with other sub-clonal mutations in the WCM117 UC primary including RYR2, NCOA3, and LSS, all of which were enriched in post-chemotherapy metastatic lesions PMID:27749842.
Therapeutic relevance
- No direct therapeutic relevance established. Its enrichment post-chemotherapy in UC suggests it may mark clones with a selective advantage under platinum-based treatment, but functional studies are lacking.
Open questions
- Functional significance of ANKRD62 mutation in UC clonal evolution is unknown; the single-patient observation from WCM117 limits generalizability PMID:27749842.
Sources
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