It isn’t often that a genetic mutation becomes part of popular culture. Yet the BRCA mutation did just that when it was featured prominently on Freeform’s The Bold Type. One of the show’s main characters, fashion magazine writer Jane Sloan, discovered she’d inherited the mutation which can raise a woman’s lifetime risk of developing breast cancer to 70 percent. It was the same disease which had killed her mother. After agonizing over the decision, the healthy 26-year-old opted to get a preventative mastectomy.
It’s not an uncommon path for many women who discover they have the genetic mutation. Although getting a so-called prophylactic mastectomy can reduce the risk of developing breast cancer by up to 95%, it’s a drastic choice. Recent research into a drug protocol with targeted treatment for early-stage breast cancer in women with inherited BRCA1 or BRCA2 mutations has had some encouraging results. Here’s what the drug does and why it may be important for women with the mutation.
Breast Cancer and The BRCA Mutations
At its heart, cancer is a genetic mutation where damaged cells divide rather than die. Not every collection of genetically damaged cells is dangerous –– many are benign. Tumors can be deadly when they spread and kill healthy cells. While these genetic mutations can occur for a variety of reasons, the BRCA mutation is different because it’s inherited. These abnormal genes are passed on from parent to child like eye color. People who inherit this gene find their bodies can’t repair damaged cells as easily –– which can lead to cancer. Having one or both BRCA mutations elevates a person’s risk for developing cancer in the prostate, pancreas, and ovaries along with a higher chance of getting breast cancer.
With the exception of lung cancer, breast cancer kills more women in the United States than any other type. Around 13% of women will be diagnosed with invasive breast cancer at some point in their life with almost 300,000 new cases in 2021 alone. The disease kills over 43,000 women every year. The prevalence of the BRCA mutation in breast cancer diagnoses varies widely across the globe, but recent research put it at over 30% in the U.S. for some types of breast cancer. Regardless of prevalence, its outsized impact puts targeted treatments in high demand. A new drug tested by OlympiA Clinical Trials is just such a treatment.
A New Hope
In the trial, women were recruited who had both early-stage breast cancer and had inherited the BRCA mutations. They had undergone a variety of treatments from radiation to mastectomies and lumpectomies. Despite those efforts, they were at high-risk for cancer recurrence. The women were divided into a control group given sugar placebo pills and a testing group which received a drug called Olaparib. This medication is a PARP inhibitor –– it blocks the work of the “poly adenosine diphosphate-ribose polymerase” enzyme. These helpful enzymes are deployed to repair DNA damage. However, by targeting only the BRCA-mutated cancer cells, the hope was that the damage would not be repaired and the cells would die due to increased DNA damage.
The initial results are promising. Women on the drug fared better than those on the placebo. Two and half years later, 85% of the women on olaparib were alive and free from recurrence of the original cancer. They also had a lower likelihood of being diagnosed with a new, second cancer. Women receiving the placebo notched 77% on these metrics. Further, researchers predicted that the likelihood cancer would not spread was almost 88% for women on the drug compared to just 80% in the control group. While the differences may seem small, in a large population it can mean hundreds, even thousands of lives saved. This helps explain why the FDA approved it to treat BRCA-related cancers not just of the breast but of the ovaries, prostate, and pancreas as well. For women who have learned they have inherited the BRCA mutation, it offers more than just an option but the hope that in the future preventative mastectomies will be unnecessary.
- Breast Cancer Risk Factors You Cannot Change
- Preventive (prophylactic) mastectomy: Surgery to reduce breast cancer risk
- DNA damage and gene mutations
- Neoplasm (Tumor)
- A new targeted treatment for early-stage breast cancer?
- A systematic review of the international prevalence of BRCA mutation in breast cancer
- Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer
John Bankston is a published author of over 150 nonfiction books for children and young adults including biographies of Jonas Salk, Gerhard Domak, and Frederick Banting.