Women with breast cancer carrying BRCA mutations do not die faster – a new study

When the famous Hollywood actress, Angelina Jolie, discovered that she carries a mutation of the breast cancer susceptibility gene BRCA1, she had both of her breasts surgically removed to prevent the chances of being diagnosed with breast cancer. The BRCA mutation is not a death sentence, so bilateral mastectomy is unnecessary. Whenever public figures like Angelina Jolie perform an act like this, many people will look at them as their role model and will follow blindly into surgical procedure. When Angelina Jolie did this surgery, I was shocked and strongly felt it should not have been done. A new study is proving that she did make a wrong choice. The question becomes, do these defective BRCA genes affect breast cancer survival in reality? A study published in The Lancet Oncology found that young-onset breast cancer patients with inherited BRCA1 or BRCA2 gene mutations have the same chances of survival as those without the mutations. Only 5% of breast cancer diagnoses are in females younger than age 40, and there is a high percentage of deaths in this age group. Many young female patients in this category carry BRCA1 or BRCA2 mutations compared with those who get breast cancer at an older age (Capson, et al., 2018).

Scientists recruited 2733 female patients from 127 hospitals in UK who were 40 years or younger at time of breast cancer diagnosis between years 2000 and 2008. The BRCA1 and BRCA2 gene mutations were spotted. Out of 2733 patients, 558 (20%) had triple-negative breast cancer (estrogen, progesterone, and HER-2/neu gene negative). Out of 558 triple-negative breast cancer patients, 136 (24%) had BRCA mutations. Out of 2733 patients, there was a BRCA mutation in a total of 338 patients (12%). (Capson, et al., 2018)

Data on treatment and long-term outcomes were collected from routine medical records and an analysis of overall survival was performed in patients with breast cancer for up to 10 years. Out of 678 total deaths, there were 651 deaths (96%) caused by breast cancer post-8.2-year median follow up. The researchers found no significant difference in overall survival between BRCA-positive and BRCA-negative patients. Approximately, 33% of those with BRCA mutation had a bilateral mastectomy after cancer diagnosis. The surgery did not enhance the chances of survival. Also, in patients with triple-negative breast cancer, they found that BRCA mutation carriers might have a survival advantage compared with non-carriers in the first couple years after initial diagnosis. (Capson, et al., 2018)

Here are conclusions of the study involving patients diagnosed with breast cancer between ages 18-40:

• A big percentage are BRCA1 and BRCA2 mutation carriers.
• There is no proof that either BRCA1 or BRCA2 mutations substantially impact overall survival with breast cancer.
• BRCA mutation carriers with triple-negative breast cancer might have an enhanced survival in the first couple years post-diagnosis in contrast to non-carriers (Capson, et al., 2018)

Should breast screening programs and the treatment standards for breast cancer with BRCA mutation be re-evaluated? With the advent of genomic investigations as a component of cancer care, many breast cancer patients know their BRCA mutation status near the time of their diagnosis. As in the case of Angelina Jolie, patients with BRCA mutations are often offered treatments such as mastectomy right away. If there is an early diagnosis of breast cancer and the patient has a BRCA mutation, it is crucial for the physician and patient to communicate before deciding the optimal timing for surgery. Physicians must take into account short-term and long-term pros and cons of mastectomy.

The BRCA1 and BRCA2 genes have been recognized for many years. Specially Ashkenazi Jews, who have been followed for this gene mutation, had higher incidence of deaths from breast and ovarian cancers. Similarly, the Brazilian Ashkenazi Jews, who also have the BRCA1 and BRCA2 genes, do not have a higher incidence of deaths. Even though both have BRCA mutation, the Brazilian Ashkenazi Jews often do not get breast cancer despite the presence of the mutation. The genes are there, but they are ultimately controlled by epigenetics, which can be modified with lifestyle, behavioral, and nutritional changes. Gene therapies were touted to fix all the diseases, cancer included, but fell out of the wagon very quickly. Cancer is a complex and multifactorial disease, and in my opinion, every one of us has some kind of cancer, but if our immune system is doing its surveillance, it keeps a check on these abnormal cells. Cancer does not have to be a death sentence, because our bodies know how to defeat cancer. Whenever there is surgical intervention, we should take second and even third opinion.