Patients carrying a BRCA1 or BRCA2 gene mutation, the risk of developing breast cancer is about three to seven times higher than women without the mutation.
"The impact on patients has been controversial, but new research suggests that breast cancer survival rates are similar between those carrying the mutation and those that don't," says Martin Dietrich, MD, hematologist and oncologist at AdventHealth.
"For patients, this means that with appropriate treatment, someone with the BRCA mutation can expect to live as long as patients without BRCA mutations. While patients carrying BRCA mutations, especially BRCA1, usually have more aggressive cancer and are diagnosed earlier in life, it is usually more responsive to chemotherapy. This is very important news because the impact on treatment outcomes and survival was previously unknown," Dr. Dietrich continues.
These findings are based on research, conducted in the U.K. that studied 2,733 women under the age of 40 who had recently been diagnosed with breast cancer. Of this group, around 12 percent of the women were found to either have a BRCA1 or BRCA2 mutation. Nearly all of the women had chemotherapy, half had a full mastectomy and the other half had a breast-conserving surgery. A very small number had no surgery, although the reasons for this are not clear.
The treatments yielded nearly identical outcomes. Among the women with the BRCA mutations, 73 percent lived 10 years, while 70 percent of the women without mutations did.
These statistics include women with aggressive triple negative breast cancer, whose survival rates were unaffected by having an abnormal BRCA gene.
"It has been observed that pathological complete response, an early surrogate marker of favorable disease outcomes, was more frequent in the BRCA subgroup of patients. Apparently, improved chemotherapy responses translate into similar outcomes, and hopefully are able to reduce the fear about the knowledge of being a BRCA mutation carrier," says Dr. Dietrich.
These findings may very well change the conversation about treatments, and when to get them. Many women with BRCA mutations who are diagnosed with early breast cancer opt to get mastectomies, often on both breasts, in order to reduce their risk of cancer returning.
Dr. Dietrich adds, "Cancer prevention remains the current goal for patients with cancer-predisposing mutations. Knowledge of BRCA mutations and the associated risk of cancer development can help clarify uncertainty and assist in the decision-making process for cancer patients. This discussion should include prophylactic measures with regards to breast cancer, including additional surgeries. However, these risk-reducing surgeries should be considered on a case-by-case basis, and individual decisions made after close consultation between a patient and her medical team."
The study only included patients that already had been diagnosed with invasive breast cancer. Preventive mastectomies, like the one Angelina Jolie underwent to reduce her risk of developing breast cancer, were not included in this study.
About one in 400 women are believed to carry BRCA mutations. Approximately 55 to 65 percent of women with a BRCA1 mutation and about 45 percent of women with a BRCA2 mutation will develop breast cancer by age 70. BRCA mutations also predispose to a variety of other cancers in both men and women, and care should be sought in a multi-disciplinary setting that can address these individual concerns.
The findings of this study are likely to further brighten for BRCA positive patients. On January 12, 2018, the Food and Drug Administration approved the first BRCA mutation-specific drug olaparib. This drug was approved for certain patients with a germline (hereditary) mutation in one of the BRCA genes.
Genetic testing and counseling can be a key component of cancer care and risk management. Knowing whether or not you have a BRCA mutation can greatly influence how diseases such as breast cancer or ovarian cancer are treated.
"At AdventHealth, we utilize cutting-edge diagnostic capabilities to screen for BRCA and other cancer-causing mutations. Our multi-disciplinary approach allows us to develop a tailored solution for each patient and to address each patient's needs individually. This involves genetic counseling for affected patients and their families, BRCA-specific treatment recommendations and prophylactic measures involving cancer and reconstructive surgeons, gynecologists and medical oncologists," concludes Dr. Dietrich.
Women who are interested in getting tested for BRCA or other gene mutations known to increase cancer risk can schedule a one-on-one consultation at the AdventHealth Cancer Institute by calling
Call855-303-DOCS.
