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Breast cancer caused by genetic mutation gets first approved treatment

13 January 2018

The latest approval was based on a study of 302 women with cancers that have spread beyond the breast and who had a BRCA gene mutation.

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.

Young women treated for breast cancer have the same survival rates regardless of whether they have the BRCA gene mutation, a study suggests.

When those results were published last June, Mark Robson, an oncologist at Memorial Sloan Kettering Cancer Center who led the multisite trial, described the treatment as "an early chapter in a woman's journey" dealing with breast cancer - one that can delay the start of chemotherapy and help preserve her quality of life.

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"While there is now no cure for metastatic breast cancer, today's approval offers a new, targeted option that may help to delay disease progression for these patients", Dr. Susan M. Domchek at the University of Pennsylvania's Abramson Cancer Center said in a statement.

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The BRCA1 and BRCA2 genes usually produce molecules inside cells that help to fix DNA. "By undergoing genetic testing for BRCA mutations, we can gain critical information that will inform personalized treatment options specifically for women with this mutation".

The team tracked the women's medical records for an average period of just over eight years, and found that 651 of 678 total deaths were due to breast cancer.

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A study of nearly 3,000 British women found that preventative surgery - like a double mastectomy - straight after being diagnosed with this type of breast cancer did not improve survival over 10 years. Most had chemotherapy, half has what's called breast-conserving surgery instead of a complete mastectomy, the other half had a full mastectomy and a very few did not have any surgery. About 20 percent to 25 percent of patients with hereditary breast cancers have a BRCA mutation.

Consultant breast surgeon Fiona MacNeill, of the Royal Marsden NHS Foundation Trust in London, said: 'This is an important large prospective national study. "And our data suggest that this decision can be made, if preferred, once a woman has physically and psychologically recovered from their cancer treatment".

'This study can reassure young women with breast cancer ... that breast conservation with radiotherapy is a safe option in the first decade after diagnosis and double mastectomy is not essential or mandatory at initial treatment.

Women who have had breast cancer are also more likely to be diagnosed with the disease a second time if they carry these genetic faults, which is why some choose to have risk-reducing surgery such as removing the breasts.

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She added: "In view of this, younger women with breast cancer can take time to discuss whether radical breast surgery is the right choice for them as part of a longer-term risk reducing strategy".

Breast cancer caused by genetic mutation gets first approved treatment