Gene Mutation BARD1 and Cancer Risk

BARD1 is a gene that works with the BRCA1 gene to repair damaged DNA in your body.

If a woman has a change, or mutation, in the BARD1 gene, she may be more likely to develop breast cancer and possibly ovarian cancer. In fact, the BARD1 gene is associated with the most aggressive breast cancer subtype, triple-negative breast cancer, according to Massachusetts General Hospital.

It’s not known if men with a BARD1 alteration have an increased risk of cancer, and it is possible that this mutation raises the risk of other cancers in both men and women.

Although BARD1 and BRCA1 collaborate with one another, they are separate genes. People with BARD1 defects typically don’t have BRCA1 mutations. (2)

BARD1 interacts with the BRCA1 gene to help fix damaged DNA in the body. Additionally, it works as a tumor suppressor, meaning it stops cells from growing uncontrollably or dividing too quickly. (3)

Yes, genetic testing is available to detect BARD1 mutations.

You might consider testing if your family members have gene abnormalities, you develop BARD1-related cancer, or you have other risk factors.

You’ll be asked to provide a blood or saliva sample that will be analyzed in a lab.

It’s a good idea to meet with a genetic counselor before being tested. This professional can assess your family history and help you understand how the test works. (4,5)

Finding out you have a BARD1 gene mutation can help you better understand your risk of cancer. It’s also helpful information for family members.

Researchers are still trying to determine exactly how much a BARD1 mutation increases a person’s risk for cancer. One 2020 study suggests a woman’s chances of developing breast cancer are 2 to 4 times higher if she has the defect.

If you inherit a BARD1 mutation, you have a fifty-fifty chance of passing it on to each of your children.

Having a BARD1 defect doesn’t mean you will definitely develop cancer; it only means your risk is higher than those who don’t have the mutation. (4,5)

In 1996, a team of researchers from the University of Texas Southwestern Medical Center first described how the BARD1 protein interacted with BRCA1 in an article published in the journal Nature Genetics. (6)

If you test positive for a BARD1 mutation, you may undergo earlier and more frequent cancer screenings.

Currently, there are no standard guidelines for lowering the risk of breast cancer in women with BARD1 mutations. But, you should talk to your doctor about an individualized cancer screening approach.

Your doctor may want you to have tests, such as mammograms and breast MRIs, performed at a younger age and more often. Or you might take certain medicines that can lower your risk of breast cancer.

Talk to your doctor about your options. (2)