NUAK1
Overview
NUAK1 (NUAK Family Kinase 1), also known as ARK5, is a serine/threonine kinase belonging to the AMPK-related kinase family. NUAK1 has been implicated in cancer cell survival, anoikis resistance, and invasion. In esophageal adenocarcinoma (EAC), NUAK1 was nominated as a significantly mutated gene candidate by whole-exome sequencing.
Alterations observed in the corpus
- Mutated in 3% of 145 esophageal adenocarcinoma cases; nominated as a significantly mutated gene candidate (MutSig FDR q<0.1) in the Broad WES cohort (149 tumor/normal pairs); classified with AKAP6 (8%), HECW1 (8%), and AJAP1 (6%) as additional significant candidates beyond the core set PMID:23525077
Cancer types (linked)
- ESCA (Esophageal Adenocarcinoma): Mutated in 3% of cases; one of 26 significantly mutated genes identified (MutSig q<0.1) in the 149-tumor Broad WES cohort PMID:23525077
Co-occurrence and mutual exclusivity
- Specific co-mutation patterns with other EAC drivers not reported in the paper PMID:23525077
Therapeutic relevance
- NUAK1 is a kinase and potentially targetable; no direct therapeutic data in EAC are reported in this study PMID:23525077
Open questions
- Functional validation of NUAK1 mutations in EAC has not been performed; whether these mutations are gain-of-function, loss-of-function, or passenger events is unknown PMID:23525077
Sources
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