To your health: Being BRCA positive a warning sign, not a cancer diagnosis

By Alfred Casale - To Your Health | October 31st, 2017 6:00 am

No matter how healthy your lifestyle is, you can’t choose your genes. So, if you have a family history of breast cancer, your doctor may recommend that you undergo genetic testing to look for BRCA1 and BRCA2 mutations in your genes. If you test positive for BRCA1 or BRCA2, it means you’ve inherited a gene mutation that puts you at greater risk for developing breast cancer.

Finding out you’re BRCA positive certainly raises a lot of questions. How will this affect you? What does it mean? How worried should you be?

BRCA1 and BRCA2 are genes that help repair damaged cells and DNA. If you have a mutation of either or both of these genes, it stops their ability to repair damaged cells and can make you more susceptible to breast cancer. Being BRCA1 or BRCA2 positive doesn’t mean you’ll get breast cancer, but it does mean you need to work closely with your doctor and be more vigilant.

How does the BRCA gene influence breast cancer development?

Women with a BRCA mutation are up to seven times more likely to get breast cancer than someone without the mutation.

The mutation is not common though. It affects between 1 in 400 and 1 in 800 people. However, people with Ashkenazi Jewish heritage are at an elevated risk of inheriting the gene — about 1 in 40 of Ashkenazi Jewish people have the mutation.

Check yourself regularly

Relying on your doctor is only part of the story. To catch breast cancer early, do regular self-exams.

Perform a breast self-examination at least once a month. Keep track of any strange lumps, especially if they are present for more than a week. If a lump persists, talk to your doctor immediately.

Get screened more often

If you have a BRCA mutation, your doctor may recommend more frequent screening for breast cancer since breast cancer does not always create a lump that can be felt.

A woman who is BRCA positive may begin mammograms earlier, perhaps between 25 and 35. Your doctor may also recommend a combination of mammograms and MRIs each year to screen for breast cancer.

Talk to your doctor about chemoprevention medications

Since some breast cancers rely on estrogen to grow and spread, your body’s estrogen production can contribute to your breast cancer risk.

Chemoprevention medications stop the production of estrogen, so they can prevent and treat breast cancer. However, these medications only work on breast cancer that is receptor positive, so it isn’t usable for all types of cancer. Chemoprevention medications are usually taken over the course of a few years for maximum effect.

Preventive surgery is an option

Preventive surgeries like mastectomies are a possibility for women who are at risk for breast cancer.

Some women with the BRCA gene decide that it is not worth the risk and opt to get a mastectomy to avoid complications. You may recall that Angelina Jolie, who had a strong family history of breast cancer, chose to have a double mastectomy as a preventive measure, after finding out she tested positive for a BRCA mutation.

Unfortunately, this is not 100 percent effective, but it does significantly lower the risk of breast cancer. This option is extreme, however, and should be carefully discussed with a doctor to make sure it is the right choice. Breast reconstruction surgery can be done at the same time as or after the surgery to help those who undergo a mastectomy regain a sense of normalcy.

We’ve entered the age of “precision medicine,” in which the combination of sophisticated genetic testing, screening for large numbers of metabolic abnormalities and advanced imaging capabilities — along with our ever-growing understanding of how the three combine to identify predispositions before disease develops — finds abnormalities early. This early detection and the ability to target treatments to the precise problem at hand are revolutionizing medicine.

Hold on, it’s going to be a wild ride!

Alfred Casale To Your Health Casale To Your Health

By Alfred Casale

To Your Health

Dr. Alfred Casale, a cardiothoracic surgeon, is Associate Chief Medical Officer for Geisinger Health and Chair of the Geisinger Cardiac Institute. Readers may write to him via [email protected]