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Gene Symbol BARD1
Synonyms
Gene Description BARD1, BRCA1 associated RING domain 1, forms a heterodimer with Brca1, which functions as an E3 ubiquitin ligase and mediator of DNA repair through homology-directed repair (HDR) (PMID: 8944023, PMID: 30925164) and centrosome regulation (PMID: 29858377). Germline mutations in BARD1 are associated with increased susceptibility to breast and ovarian cancers (PMID: 21344236), somatic mutations are highest in colon and endometrial cancers (PMID: 27283171) and BARD1 has also been implicated in neuroblastoma (PMID: 32047556).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
580 2 2q35 NM_000465 Tumor suppressor (PMID: 30606230)
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