BARD1 gene
BARD1 gene
The BARD1 gene is involved in the Fanconi anemia (FA)–BRCA pathway, which works with other important genes and is critical for DNA repair. Mutations in these genes are estimated to increase a person’s lifetime risk for breast cancer by 4 fold. Current studies are looking to see if there is a link to an increased risk of ovarian cancer as well.
No national guidelines exist for managing cancer risk in people who inherit a mutation in BARD1. We recommend consulting with a genetics expert who can assess your personal and family history of cancer, and can help you to determine the best risk-management plan.
Some surveillance options may include:
Breast Cancer:
Education
Breast awareness from age 18
Surveillance
Women:
Clinical breast exam once a year from age 20 and twice a year from age 25
Imaging starting 10 years before the earliest breast cancer in the family or age 40, whichever is younger:
Mammogram once a year, starting no earlier than age 30
Depending on family history and other personal risk factors, consider breast MRI once a year staggered 6 months from MRI
Prevention
Current data on a BARD1 mutation does not alone confirm a level of risk that would be an indication for Tamoxifen or risk-reducing mastectomy, though this could vary based on family history.Tamoxifen and other preventive medications have been shown to significantly reduce breast cancer risk in women at high risk; however, the data on women with genetic mutations is limited. Women can elect to consult with an oncologist about the potential benefits and risks of preventive medications.
Ovarian Cancer:
Education
Symptoms include persistent (>2 weeks) of abdominal bloating, changes in bowel habits, frequent urination, or early satiety
Prevention
Oral contraceptives (if not contraindicated) lower the risk of ovarian cancer by 50% when taken for 3-5 years.
Resources
Genetics Home Reference http://ghr.nlm.nih.gov/gene/BARD1