ATXN1
Overview
ATXN1 (Ataxin-1) encodes a polyglutamine-containing protein involved in transcriptional regulation; germline CAG repeat expansions cause spinocerebellar ataxia type 1. In cancer genomics, ATXN1 was identified by MutSigCV analysis as a significantly mutated gene in pancreatic ductal adenocarcinoma, though its functional role in PDA biology remains to be validated.
Alterations observed in the corpus
- MutSigCV-significant mutation in pancreatic ductal adenocarcinoma (PDA); functional role in PDA biology awaits validation PMID:25855536
Cancer types (linked)
- PAAD — recurrently mutated; classified among additional MutSigCV-significant genes not previously highlighted in PDA PMID:25855536
Co-occurrence and mutual exclusivity
- Co-occurs with other MutSigCV-significant PDA drivers; specific co-mutation patterns not detailed PMID:25855536
Therapeutic relevance
- No direct therapeutic relevance established for ATXN1 alterations in PDA.
Open questions
- Functional role of somatic ATXN1 mutations in pancreatic cancer biology is unresolved.
Sources
This page was processed by crosslinker on 2026-05-14.