BARD1

The BARD1 gene provides instructions for making a protein that helps control cell growth and division. Within the nucleus of cells, the BARD1 protein interacts with the protein produced from the BRCA1 gene. Together, these two proteins act as tumor suppressors, which means they prevent cells from growing and dividing too rapidly or in an uncontrolled way.

The BARD1 and BRCA1 proteins work together to repair damaged DNA. Research has shown that the BARD1 protein binds to the BRCA1 protein, which stabilizes both proteins and targets BRCA1 to sites where DNA strands are broken. Breaks in DNA can be caused by natural and medical radiation or other environmental exposures, but also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair damaged DNA, the BARD1 and BRCA1 proteins play a critical role in maintaining the stability of a cell's genetic information.

Studies suggest that the BARD1 protein also has functions apart from its partnership with BRCA1. BARD1 interacts with another protein, p53 (which is produced from the TP53 gene) to promote controlled cell death (apoptosis) and regulate cell division. Other potential functions of the BARD1 protein are under study.

breast cancer - associated with the BARD1 gene

The role of BARD1 mutations in cancer risk is uncertain. Although some research studies have found that changes in the BARD1 gene may influence a person's risk of developing breast cancer, other studies have not supported this association.

Mutations in the BARD1 gene may prevent the BARD1 protein from helping repair damaged DNA. As defects accumulate in DNA, they can allow cells to grow and divide uncontrollably and form a tumor. Additionally, BARD1 mutations may prevent cells from self-destructing (undergoing apoptosis) when they are damaged or no longer needed, which can also contribute to the formation and progression of cancerous tumors.