Our bodies are made of tiny units called cells, and within these cells, our genetic information is stored in structures called genes. Genes act as instructions, guiding the body’s development, function, and maintenance. The BARD1 gene is one such set of instructions, playing a specific role in maintaining our health.
The BARD1 Gene’s Role
The BARD1 gene normally functions in DNA repair, fixing damage to our genetic material. It works in close partnership with the BRCA1 gene, forming a complex. By actively participating in DNA repair, the BARD1-BRCA1 complex helps maintain the stability of our genome, preventing uncontrolled cell growth that can lead to disease.
What BARD1 Mutations Mean
A mutation in the BARD1 gene refers to a change in its DNA sequence, which can alter or impair the gene’s normal function. These changes can result in a protein that is less effective or even non-functional, hindering its ability to participate in DNA repair.
BARD1 mutations are typically inherited, meaning they are passed down through families from parent to child. Such inherited mutations are also known as germline mutations. If one parent carries a BARD1 mutation, each child has a 50% chance of inheriting that same mutation. Both males and females can pass on these mutations, and inheriting even one copy of a mutated BARD1 gene can increase an individual’s health risks.
Associated Health Risks
When the BARD1 gene is mutated, its ability to repair DNA damage is compromised, which can lead to an accumulation of errors in the genetic code. This genomic instability increases an individual’s predisposition to certain health conditions, particularly specific cancers. The primary concern associated with BARD1 mutations is an increased risk of breast cancer in women. Studies indicate that women with a BARD1 mutation may have a lifetime breast cancer risk ranging from approximately 17% to 30%, which is significantly higher than the general population’s risk of about 12.5%.
Some research suggests that BARD1 mutations are particularly linked to triple-negative breast cancer (TNBC), a more aggressive subtype that lacks common hormone receptors. While the association with ovarian cancer has been less consistently established, some studies have reported a possible increased risk.
Testing and Risk Management
BARD1 mutations are identified through genetic testing, which typically involves providing a blood or saliva sample for laboratory analysis. Individuals who have a personal or family history of breast or ovarian cancer may consider genetic testing to determine if they carry a BARD1 mutation. Genetic counseling is often recommended before and after testing to help individuals understand the implications of the results and their potential impact on family members.
For those identified with a BARD1 mutation, risk management strategies focus on earlier detection and potential risk reduction. These strategies often include increased surveillance, such as more frequent clinical breast exams, yearly mammograms, and consideration of yearly breast MRIs, sometimes starting at a younger age (around 25 or 40, depending on family history). While there are no universal guidelines for all cancers, discussions with healthcare providers regarding individualized screening plans and possible preventative medications, such as tamoxifen, are common.