Newly Diagnosed

Got the BRCA Gene Mutation? You’ve Got Options.

Medically Reviewed By

Toyree Davis, MSN, NP

Toyree Davis, MSN, NP: Toyree Davis is a board-certified Nurse Practitioner with 12 years experience in medical oncology. She is chemotherapy and biotherapy certified. Toyree’s early career focused on all cancer populations and in recent years has focused exclusively on breast cancer, head & neck, and lung cancer populations. She achieved her Master of Science in Nursing as a Family Nurse Practitioner at the University of Memphis. She is passionate about early detection and helping the community to become more informed about preventative cancer screenings and awareness.

Written By

Holly Sidell

Holly is a writer, performer, and health advocate, sharing her personal experience as a breast cancer survivor and carrier of the BRCA1 gene mutation to raise awareness, and support women as they navigate their own cancer journey - practically, spiritually, and emotionally. With training and background in Reiki, spirituality, and holistic health/wellness, her writing runs the gamut from being a regular contributor at The Huffington Post, to produced playwright, to Senior Writer for a global non-profit.

You just learned you’re a carrier of the BRCA gene mutation. We’re here to arm you with information.

Go ahead, cry it out. Yell about how unfair it is… because it is. But then remember that a positive test result indicating that you carry the BRCA gene mutation does not mean you will necessarily develop cancer. And it can’t predict when you might. It does mean that you’re at a much higher risk for it.

Of course, that is anything but great news, but there is a positive side: You now have empowering knowledge that can save your life. You can take control of your health and make proactive decisions to reduce your breast cancer risk.

First and foremost, find a medical team you trust, most likely including a breast surgeon/specialist and oncologist. They will guide you through, and oversee, the main options usually presented to BRCA mutation carriers. Here’s a general rundown:

Preventative measures for BRCA

SURGERIES:

Prophylactic bilateral double mastectomy

Translation: risk-reducing surgical removal of both breasts

This is the most effective measure across the board to reduce the risk of breast cancer, lowering the risk by a whopping 90-95%. But it is also a life- and body-altering one. The decision to go this route is personal to each woman, yet it’s one that many have said brings peace of mind.

Prophylactic Bilateral salpingo-oophorectomy

Translation: risk-reducing removal of both ovaries and fallopian tubes

While having this surgery by the age of 35 is the number one recommendation for the prevention of ovarian cancer in BRCA mutation carriers, the removal of the ovaries and fallopian tubes also offers an approximately 50-56% reduction in breast cancer in women at high risk.

Obviously, undertaking this surgery is a major life decision and there is so much to say and explore about it, but for now, we’re simply laying out the facts so you’re armed with information when you talk to a doctor.

PARP INHIBITORS:

Sometimes, a doctor recommends prevention drugs called PARP inhibitors for BRCA mutation carriers. These FDA-approved drugs are considered “targeted therapies” which have been found to stop the growth of cancer cells with the BRCA mutations, thereby both treating and reducing the risk of breast cancer.

PARP stands for poly adenosine diphosphate (ADP)-ribose polymerase, a type of enzyme that helps repair DNA damage in cells. When BRCA1 or 2 genes are not functioning correctly, cancer cells depend on PARPs to survive and grow. A PARP inhibitor, therefore, blocks the PARP enzymes from repairing the DNA damage, killing the cancer cells.

Taken orally, the length of time someone is on a PARP inhibitor depends on what it is being used for (treatment, prevention, or maintenance), and will be discussed with your doctor. Because they target cancer cells, they mostly avoid healthy cells and therefore tend to have fewer side effects than chemotherapy.

OTHER DRUGS:

There are also two FDA-approved oral medications for breast cancer reduction in those with higher than average breast cancer risk, although not specifically for those with the BRCA gene mutation.

Both block the effects of estrogen on breast tissue. Tamoxifen, often used as part of treatment for hormone receptor-positive breast cancer, can also be used preventatively for premenopausal women without a cancer diagnosis, but high risk based on testing and family history, and Raloxifene (Evista) is used for breast cancer prevention in postmenopausal women with high risk.

Surveillance

Early detection of breast cancer saves lives! Those with BRCA gene mutations who have opted not to have the preventative mastectomy need to be watched more closely than others so that if something does seem off, it can be addressed immediately.

This surveillance includes vigilant self-breast exams, clinical breast exams two times a year, and annual mammograms and breast MRIs. Of course, women who had the mastectomy will remain under surveillance, as well.

A quick note from personal experience: do not rely on mammograms alone. Two weeks before being diagnosed with stage 2 aggressive breast cancer, I had a clear mammogram. If you have the mutation, insist on the MRI and ultrasounds.

Our hope is that all this info helps you feel more empowered about your choices as a carrier of the BRCA mutation, or in your decision to test for it. Some of us here have been in your shoes, and know how confusing and hard it all can be. No matter what you choose, we’re here for you at every stage of the process.

“You just learned you’re a carrier of the BRCA gene mutation. Yeah, it’s terrifying. But, there’s a positive: you now have empowering knowledge that can save your life. You can take control of your health and make decisions to reduce your breast cancer risk.”

- Holly Sidell

This article is for informational purposes only and should not be relied upon as, nor should it be a substitute for, professional medical advice, diagnosis, or treatment. Always consult with your personal healthcare professional to determine what is best for you.