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Gene mutation doesn't make women diagnosed with breast cancer more likely to die

A gene mutation that makes it likely for women to develop breast cancer doesn't actually make the disease worse.

Tibi Puiu
January 12, 2018 @ 4:37 pm

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Angelina Jolie made headlines when she underwent preventative surgery after learning she had an up to 87% chance of developing breast cancer. Doctors had found that the star had mutations in BRCA genes which increase a woman’s risk of breast cancer by four-to-eightfold. Now, new findings suggest that Jolie may have been too rushed.

Credit: Wikimedia Commons.

Credit: Wikimedia Commons.

Scientists at the University of Southampton, UK, recently reported that women who carry a mutation in the BRCA1 or BRCA2 genes are not more likely to die after a breast cancer diagnosis than non-carriers. What’s more, carrying these mutations might, in fact, boost the odds of beating cancer if the diagnosis is triple-negative breast cancer.

BRCA mutations can cause cancer because the DNA self-repair mechanisms can malfunction. Besides breast cancer, these mutations have been linked to an increased risk of ovarian and prostate cancers.

“Women diagnosed with early breast cancer who carry a BRCA mutation are often offered double mastectomies soon after their diagnosis or chemotherapy treatment” compared to non-mutation carriers, study co-author Diana Eccles of the University of Southampton said in a statement.

“Our findings suggest that this surgery does not have to be immediately undertaken along with the other treatment.”

The study involved 2,733 British women aged 18-40 who had been diagnosed with breast cancer between 2000 and 2008. About 12 percent of the patients had a BRCA mutation, yet again confirming the association between this ‘faulty gene’ and breast cancer. Roughly 30 to 60 percent of BRCA1 or BRCA2 carriers will develop breast cancer in their lifetime, compared to an estimated 12 percent of women in the general population.

After the women’s medical records were tracked for up to ten years, researchers found that 651 of 678 total deaths were due to breast cancer. Most importantly, they uncovered that there was no difference in overall survival two, five, or ten years after diagnosis for women with and without a BRCA mutation. Actually, those with a BRCA mutation had slightly higher survival rates for the first two years after diagnosis, in the case of patients with triple-negative breast cancer.

About a third of those with the BRCA mutation had a double mastectomy to remove both breasts after being diagnosed with cancer, the same surgery Jolie went through. This surgery did not appear to improve their chances of survival at the 10-year mark, according to the findings published in The Lancet Oncology.

The findings might come as a welcomed breath of fresh air for many young women newly diagnosed with breast cancer, particularly those who are BRCA carriers. It means that they can take time to discuss whether radical breast surgery is the right choice for them as part of a longer-term risk-reducing strategy.

“So long as women are treated appropriately and are safe there is no crashing hurry … they need to be given the space to get as much information as they can and not feel like they need to do it all at once,” Fran Boyle, Professor of Medical Oncology at the University of Sydney told the SMH. 

“This important topic needs more prospective research as preventive surgical measures might have an effect on what might be a very long life after a diagnosis of breast cancer at a young age,” wrote Peter Fasching from the Friedrich-Alexander University Erlangen-Nuremberg, Germany.

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