Is there more to BARD1 than BRCA1?
review · Level V
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- Record sourced from PubMed, PMID 16633366.
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Abstract
It has been over a decade since mutations in BRCA1 and BRCA2 were found to be associated with a small number of familial breast cancer cases. BRCA1 is a large protein that interacts with many other proteins that have diverse functions, so it has been a challenge to determine how defects in its function could lead to cancer. One particular protein, BARD1, seems to be an important regulator of the tumour-suppressor function of BRCA1, as well as acting as a tumour suppressor itself. BARD1 is indispensable for cell viability, so loss-of-function mutations are rare, but mutations and truncations that alter its function might be involved in the pathogenesis of breast cancer.
Medical subject headings
- BRCA1 Protein
- Breast Neoplasms
- Germ-Line Mutation
- Tumor Suppressor Proteins
- Ubiquitin-Protein Ligases