When BRCA Genes Make Trouble

Let’s face it. Many risk factors exist for breast cancer. Some you can’t change – like your age or race. Others you can, especially if they’re lifestyle choices like smoking, drinking and diet. Inheriting certain genes can also raise your risk, but you can take steps to manage that. The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene.

What Role Do BRCA Genes Play in Breast Cancer?

When they function properly, BRCA1 and BRCA2 genes work to suppress the development of breast cancer, says Thomas Heck, MD, Surgical Director at the breast center at Miami Valley Hospital North. But, if they are mutated or broken, the risk of developing breast cancer is increased.

Click play to watch the video or read the transcript.

Can you explain BRCA I and BRCA 2 genes?

The first thing is when I see a patient who fits the criteria, meaning there are certain criteria we work by in our high-risk program. The criteria we use is based on the NCCN guidelines. That is the National Cancer Comprehensive Network. This is an organization that deals with all cancers, not just breast cancer, and basically the smartest people in the country, if you will, get together several times a year to come up with recommendations for the diagnosis, the treatment and how to handle different cancers. When I see a patient for the first time that maybe has never been diagnosed with cancer but she’s here to evaluate a breast lump or abnormal mammogram, part of our work up is inquiring about her own past history herself, her family history which is very important, to see is she a candidate for possibly undergoing a more full evaluation to see if she meets that criteria. One thing that is very important is that BRCA testing is not a screening tool. People shouldn’t walk in off the street and want that test. There is very strict criteria that should be met before they’re tested because only then do you know the implications it can have for that patient.

 

You can inherit a harmful BRCA1 or BRCA2 mutation from your mother or father. If this is the case, your lifetime risk of developing breast and/or ovarian cancer rises greatly.

How Can I Find Out If I Carry These Genes?

Genetic testing can tell you if you are a carrier for mutations in either BRCA gene. Dr. Heck explains that cancer specialists use such genetic tests in patients who meet the criteria for testing, not as a screening tool.

Click play to watch the video or read the transcript.

How do women know if they are a carrier of the gene?

The first thing is when I see a patient who fits the criteria, meaning there are certain criteria we work by in our high-risk program. The criteria we use is based on the NCCN guidelines. That is the National Cancer Comprehensive Network. This is an organization that deals with all cancers, not just breast cancer, and basically the smartest people in the country, if you will, get together several times a year to come up with recommendations for the diagnosis, the treatment and how to handle different cancers. When I see a patient for the first time that maybe has never been diagnosed with cancer but she’s here to evaluate a breast lump or abnormal mammogram, part of our work up is inquiring about her own past history herself, her family history which is very important, to see is she a candidate for possibly undergoing a more full evaluation to see if she meets that criteria. One thing that is very important is that BRCA testing is not a screening tool. People shouldn’t walk in off the street and want that test. There is very strict criteria that should be met before they’re tested because only then do you know the implications it can have for that patient.

 

Genetic testing examines your DNA – usually from a blood or saliva sample. If you’re considering genetic testing, talk first with a doctor, nurse or genetic counselor who is qualified to explain and the pros and cons of testing and to interpret the results.

Harmful BRCA1 and BRCA2 gene mutations are rare.

Keep in mind that harmful BRCA1 and BRCA2 gene mutations are rare. Most experts agree that if you don’t have cancer, you should only be tested if your individual or family history indicates a possible problem. Only a small fraction of women who have a family history of breast cancer should be referred for genetic counseling and testing.

I Have a Harmful BRCA Gene. Now What?When BRCA Genes Makes Trouble - In Content

If you know that you carry a harmful BRCA1 or BRCA2 mutation and want to manage your cancer risk, consider these options in consultation with your physician:

  • Enhanced screening: You could start cancer screenings at a younger age than is typical or get screened more often. Some experts recommend annual clinical breast exams and mammograms before the age of 40.
  • Genetic testing: Be sure to discuss your situation with a breast specialist or genetic counselor. They can identify and explain the incidence of certain kinds of cancer for you and your family, and present options for general cancer prevention and medical watchfulness. If further testing is necessary, a certified genetic counselor can explain the advantages, disadvantages and limitations of genetic test results.
  • Preventive (prophylactic) mastectomies: Removing both breasts before cancer is diagnosed can greatly reduce the risk of breast cancer – by up to 97 percent, according to the American Cancer Society. Some women who have cancer diagnosed in one breast decide to remove the other healthy breast to help prevent a second breast cancer. Removing the ovaries also reduces the risk of breast cancer in premenopausal women by eliminating a source of hormones that can fuel the growth of some breast cancers.
  • Chemoprevention: Using drugs to reduce the risk of cancer is also showing some promise. Tamoxifen and raloxifene can be used by some women to block the action of estrogen in breast tissue. Experts recommend that these drugs only be used by women who know they are at risk of breast cancer.
Small Steps: Ask for Your Medical Records
When you go for a second opinion, be sure to ask that your medical records be shared with the doctor you are going to see.