EDC4
Overview
EDC4 (Enhancer of mRNA decapping 4) encodes a scaffold protein for the RNA decapping complex (P-bodies). Somatic mutations in EDC4 are enriched in metastatic breast cancer relative to early breast cancer, and the gene is part of an eight-gene signature associated with a 2-fold increase in death hazard in patients with metastatic breast cancer.
Alterations observed in the corpus
- Mutations more frequent in metastatic breast cancer (BRCA) vs early breast cancer (eBC) at FDR<0.01 (one of eight metastasis-enriched genes: ESR1, FSIP2, AGRN, FRAS1, IGFN1, EDC4, OSBPL3, PALB2) in 216 mBC whole-exome sequencing samples PMID:28027327.
- Patients with ≥1 mutation in the 8-gene metastatic-enrichment set had a 2-fold increase in death hazard (HR=1.97, 95% CI 1.34–2.89, p=0.001) on multivariate analysis PMID:28027327.
Cancer types (linked)
- BRCA — EDC4 is part of the 8-gene metastasis-enriched signature in HR+/HER2− mBC; prognostic significance requires independent validation PMID:28027327.
Co-occurrence and mutual exclusivity
- Co-enriched with ESR1, FSIP2, AGRN, FRAS1, IGFN1, OSBPL3, and PALB2 as part of the metastasis-enriched mutation signature in mBC PMID:28027327.
Therapeutic relevance
- No direct therapeutic targeting reported. The 8-gene signature may have prognostic stratification utility but authors note survival association was not corrected for mutational load PMID:28027327.
Open questions
- The functional basis for EDC4’s contribution to metastatic breast cancer (if any) is unknown; the mutation enrichment may reflect mutational load or selection bias rather than a cancer driver role PMID:28027327.
Sources
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