Is there more to BARD1 than BRCA1?
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.
Irminger-Finger
Irmgard
I
Biology of Aging Laboratory, Department of Geriatrics, Geneva University and University Hospitals, 30, Bloulevard de la Cluse, CH-1211 Geneva, Switzerland. irmgard.irminger@medecine.unige.ch
Jefford
Charles Edward
CE
D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005544:Forecasting; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D019313:BRCA1 Protein; D025521:Tumor Suppressor Proteins; C102449:BARD1 protein, human; D044767:Ubiquitin-Protein Ligases