BRCA mutation

A percentage of breast cancers are strongly associated with a BRCA mutation. Many women will undergo radical and invasive surgeries as a preventative measure. A research group in the UK analyzed if young breast cancer patients with a BRCA mutation can afford to postpone preventative surgeries.

BRCA mutations are mutations in either breast cancer type 1 or type 2 susceptibility protein (BRCA1/ BRCA2). These proteins are responsible in aiding to repair damaged DNA. If they are unable to repair this DNA, then they send the cell to be destroyed. Mutations in these genes ultimately mean that damaged DNA is not repaired or destroyed and this can increase the risk for breast cancer. Currently, anywhere between 5-10% of breast cancers are associated to a BRCA mutation.

How Does a BRCA Mutation Impact our Health Decisions?

Women with a BRCA mutation have a significantly increased risk of breast cancer. However, what should be noted is that just because women may harbour a BRCA mutation, does not guarantee that they will develop cancer. There are different types of preventative surgeries that could lower the cancer risk for women who have a BRCA mutation, including mastectomies. Although radical mastectomies are a common choice among those with a BRCA mutation, research studies have been unclear whether the surgery is a necessary step. Researchers in the UK conducted a study to determine if women with the BRCA mutation needed to rush and undergo radical surgeries.

This study was recently published in the Lancet Oncology and was reviewed by BMJ Research News. This cohort study included 2,733 women who were 40 years old or under when they were initially diagnosed with breast cancer. The researchers analysed the DNA of the participants and found that 12% of these patients had a BRCA mutation. The patients underwent conventional treatment including chemotherapy, breast-conserving surgery, and mastectomy.

A follow-up after two years found that overall survival of women with a BRCA mutation (97%) had comparable survival rates to women who did not carry the BRCA mutation (96.6%). These results were consistent at follow-ups at both five years (83.8% vs 85%) and 10 years (73.4% and 70.1%). The researchers found that women who harboured a BRCA mutation in patients with triple-negative breast cancer had a slight overall survival advantage over women who do not carry a BRCA mutation. They concluded that this was not due to having had radical surgery and that the real reason was still unclear. The study also revealed that double mastectomy was not correlated with better survival rate.

Double Mastectomies are Not Mandatory for Those with a BRCA Mutation

This research study concluded that a double mastectomy, especially for women diagnosed with breast cancer early on in life, does not seem to confer an advantage for those with a BRCA mutation. She said that this radical and invasive surgery does not have to take place immediately and other treatment options can be undertaken prior to a surgery. It also means that young women with a BRCA mutation and diagnosed with breast cancer can weigh their options to make the right choice for themselves to ensure longer survival rates.

Written by Ingrid Qemo, BSc

References:

(1) Copson, E., Maishman, T., Tapper, W. 2018. Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. Lancet Oncol. doi:10.1016/S1470-2045(17)30891-4.
(2) Wise, J. 2018. Young women with BRCA mutation can safely postpone radical surgery. BMJ Research News. doi: 10.1136/bmj.k180

Facebook Comments

How much did this article help your understanding of this health condition?

0 1 2 3 4 5