AHNAK2
Overview
AHNAK2 encodes a large scaffold protein involved in membrane repair and signal transduction. In cancer genomics, AHNAK2 appears at a high coding-mutation frequency in breast cancer, but its driver status is uncertain due to a high background mutation rate. It has been flagged alongside MUC16 and SYNE1 as a gene where tumorigenic roles cannot be confirmed without further analysis.
Alterations observed in the corpus
- High coding-mutation frequency of 16.2% in the METABRIC 2,433-sample breast cancer cohort; flagged alongside MUC16 and SYNE1 as having a high background mutation rate; uncertain breast-cancer driver status PMID:27161491
Cancer types (linked)
- BRCA (breast cancer): 16.2% coding-mutation frequency in the METABRIC cohort; driver status uncertain due to high background mutation rate PMID:27161491
Co-occurrence and mutual exclusivity
- Co-flagged with MUC16 and SYNE1 as pan-cancer-frequent genes with high background mutation rates in the breast cancer context PMID:27161491
Therapeutic relevance
- No therapeutic relevance established; driver status unconfirmed.
Open questions
- Whether high AHNAK2 coding-mutation frequency reflects positive selection in breast cancer or simply a high background mutation rate remains unresolved PMID:27161491
Sources
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