RSF1
Overview
RSF1 (Remodeling and Spacing Factor 1) encodes a chromatin remodeling protein that forms part of the RSF complex involved in nucleosome remodeling. Located at 11q14.1, RSF1 is frequently co-amplified with PAK1 as part of the 11q13/14 amplicon cassette in breast cancer, particularly in the ER-positive IntClust 2 subgroup.
Alterations observed in the corpus
- Amplified in the 11q13/14 cis-acting amplicon cassette alongside PAK1 in IntClust 2 breast cancers (predominantly ER-positive); 34-39/45 IntClust 2 cases amplified at this locus PMID:22522925
Cancer types (linked)
- Breast cancer (ER-positive, IntClust 2): recurrent focal amplification at 11q14.1 as part of the 11q13/14 cassette PMID:22522925
Co-occurrence and mutual exclusivity
- Co-amplified with PAK1 at 11q14.1 and CCND1, EMSY at 11q13/13.5 in IntClust 2 breast cancer PMID:22522925
Therapeutic relevance
- The 11q13/14 amplicon defines a high-risk ER-positive subgroup (IntClust 2) that may warrant distinct therapeutic approaches beyond standard ER-positive classification.
Open questions
- Specific functional contribution of RSF1 amplification versus co-amplified genes (PAK1, CCND1, EMSY) to the IntClust 2 phenotype is not fully delineated.
Sources
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