EMSY
Overview
EMSY (11q13.5) encodes a protein that binds the BRCA2 transactivation domain, suppressing BRCA2-mediated transcriptional activation and DNA repair. Amplification of EMSY provides a mechanistic link between the BRCA2 homologous recombination pathway and sporadic (non-germline) breast cancer. EMSY sits within the 11q13/14 amplicon cassette, one of the most clinically relevant copy number gain regions in breast cancer.
Alterations observed in the corpus
- Amplification in 34/45 cases (76%) of IntClust 2 breast cancer (11q13/14 amplicon, ER-positive) in the METABRIC cohort (2,000 tumors); co-amplified with CCND1, PAK1, and RSF1 as part of a cis-acting cassette; links the BRCA2 pathway to sporadic breast cancer PMID:22522925
Cancer types (linked)
- BRCA (breast cancer): EMSY amplification is concentrated in IntClust 2, an ER-positive high-risk subgroup with steep mortality trajectories in METABRIC; the relative contribution of EMSY versus co-amplified genes (CCND1, PAK1, RSF1) in this cassette remains unresolved PMID:22522925
Co-occurrence and mutual exclusivity
- Co-amplified with CCND1 (11q13.3), PAK1, and RSF1 (11q14.1) in IntClust 2 breast cancer PMID:22522925
Therapeutic relevance
- EMSY amplification links sporadic breast cancer to BRCA2 pathway dysfunction, raising the possibility that PARP inhibitor strategies relevant to BRCA2-mutant tumors could be explored; no direct clinical trial evidence in this corpus.
Open questions
- The 11q13/14 amplicon contains multiple candidate drivers (CCND1, EMSY, PAK1, RSF1); the relative contribution of each gene is not resolved PMID:22522925
Sources
This page was processed by entity-page-writer on 2026-05-06.