Newly Diagnosed

What to Expect When You Have Breast Cancer And A BRCA Gene Mutation

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.

Learning that you have breast cancer — and carry the BRCA gene mutation — is overwhelming, to say the least. But it can also affect the course of treatment suggested for you, and the success of its outcome. And that’s a little bit of a score, in our book.

If you already know you carry the BRCA gene, that information is crucial to share with your doctor. If you don’t know, but any of the entries on this list apply to you, link to the what is BRCA gene article and speak to your medical team about taking that blood test.

Further, there are numerous different variants of BRCA 1 and 2 mutations that can occur in each gene, and those different variants offer their own specialized information. All of this may contribute to your treatment plan.

Effects of BRCA On Your Treatment Plan

Having the BRCA gene can affect your treatment plan in two ways:

Type of chemotherapy

As discussed in this earlier post, the BRCA1 and 2 genes are involved in DNA repair, and it has been proven that tumors with alterations in either of these genes are sensitive to drugs that work by damaging DNA, like platinum-based agents such as carboplatin.

These chemo drugs, therefore, might be used in treating breast cancers in those with BRCA gene mutations, while a different drug may be used for someone with the same kind of breast cancer, but no inherited mutations. The BRCA1 gene is also much more likely to cause Triple Negative breast cancer (not driven by hormones or HER-2), which informs treatment decisions.

Surgery: Mastectomy vs Lumpectomy

A lumpectomy removes the tumor and some surrounding tissue. For many women, this is the route their doctors suggest for breast conservation, and the one they end up choosing. But for carriers of the BRCA gene mutation, a double mastectomy tends to be the standard of care.

Women with a BRCA1 or 2 mutation have a higher-than-average chance of recurrence and of developing cancer in the opposite breast. Therefore, removing not only the tumor but also all the breast tissue in both breasts offers the greatest chance for a curative setting and prevention.

Obviously, this is a major decision and not something to be taken lightly. But the stats, for many, are convincing: a bilateral mastectomy decreases the risk of breast cancer by 90-95% in patients with the BRCA mutations. So, for many, the peace of mind this surgery brings is worth it.. Some of us here have gone through this, and are here to support you if this is the route you take; check out our article, “mastectomy surgery prep.”

Follow-up Maintenance and Prevention

A class of FDA-approved drugs called PARP inhibitors have shown to be particularly effective against BRCA-related ovarian or breast cancer – both treating breast cancer, and reducing the risk of recurrence. PARPs, poly adenosine diphosphate (ADP)-ribose polymerase, help repair damaged DNA in a cell. And the PARP enzymes PARP-1, PARP-2, and PARP-3 are particularly important when another “repair crew” — which includes BRCA1 and BRCA2 — is compromised.

When BRCA1 or 2 genes are not functioning correctly, cancer cells depend on PARPs to survive and grow. Therefore, inhibiting the PARPs from doing their job through these drugs (taken orally) has proven to be a promising treatment for cancers driven by BRCA gene mutations.

This improves outcomes both when used alone or in conjunction with treatments that cause DNA damage (such as chemo and radiation).

The length of time a person is on a PARP inhibitor depends on what it is being used for — prevention, prevention maintenance following treatment, or treatment — and will be discussed with your doctor. The good news is that because they target cancer cells, they mostly avoid healthy cells, thereby having fewer side effects than chemotherapy. The most common side effect is anemia, and others include nausea, dizziness, and decreased appetite.

Currently, there are four PARP inhibitors on the market that have been found to stop the growth of cancer cells with the BRCA mutations. So this is definitely something to ask your doctor about after treatment.

If you have the BRCA gene, you’re not alone. For more information, check out the other pieces in the series.

Can going through breast cancer and having the BRCA gene mutation feel like a slow-moving sh*tstorm? Uh… yup. But we’ve found that having a little bit of knowledge brings a sense of much-needed empowerment.

- 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.