BARD1
Overview
BARD1 (BRCA1-associated RING domain protein 1) is a tumor suppressor that forms a heterodimeric complex with BRCA1 via their respective RING domains. This complex is essential for BRCA1 stability and its E3 ubiquitin ligase activity, and plays a central role in homologous recombination-mediated DNA double-strand break repair. Germline variants in BARD1 are associated with hereditary breast and ovarian cancer susceptibility, and somatic mutations have been identified in neuroblastoma.
Alterations observed in the corpus
- Mutated in neuroblastoma (Broad WES/WGS, 240 tumors); BARD1 identified among recurrently mutated genes involved in DNA-damage repair PMID:23334666
Cancer types (linked)
- NBL (Neuroblastoma): Identified as a recurrently mutated gene in a large WES/WGS cohort of 240 neuroblastoma tumors PMID:23334666
Co-occurrence and mutual exclusivity
- Forms obligate heterodimer with BRCA1; mutations in BARD1 functionally equivalent to BRCA1 loss in DNA-repair competence.
Therapeutic relevance
- BARD1-deficient tumors may be sensitive to PARP inhibitors due to homologous recombination deficiency, similar to BRCA1/BRCA2-mutant cancers.
Open questions
- The precise frequency of BARD1 somatic mutations in neuroblastoma and their functional impact on DNA repair remain to be fully characterized.
Sources
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