HECW1
Overview
HECW1 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1, also known as NEDL1) encodes a HECT-domain E3 ubiquitin ligase. In cancer, it has been identified as a statistically significant candidate driver gene in esophageal adenocarcinoma (EAC) based on whole-genome and whole-exome sequencing, though its precise oncogenic mechanism in this context remains to be experimentally validated.
Alterations observed in the corpus
- Recurrently mutated in 8% of esophageal adenocarcinomas (EAC) in a WGS/WES study of 145 tumors; nominated as a statistically significant candidate driver but not yet experimentally validated PMID:23525077
Cancer types (linked)
- EAC (Esophageal Adenocarcinoma): mutated in ~8% of tumors in a large WGS/WES cohort; statistical significance established but functional role not confirmed in this study PMID:23525077
Co-occurrence and mutual exclusivity
- Co-nominated alongside AKAP6, AJAP1, and NUAK1 as additional significant candidate drivers in EAC PMID:23525077
Therapeutic relevance
- No approved targeted therapies; nominated as a candidate driver warranting further validation PMID:23525077
Open questions
- Functional validation is lacking; HECW1 is nominated statistically in EAC but not experimentally confirmed in this study PMID:23525077
Sources
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