BRCA Gene Mutation Does Not Affect Breast Cancer Survival Rates For Younger Women

Dubbed the 'Angelina Jolie Effect', some women with the faulty genes opt to have preventative mastectomies.

Women under the age of 40 with breast cancer have the same chances of survival whether or not they’ve been diagnosed with a BRCA gene mutation, new research suggests.

Having a faulty BRCA gene - either BRCA1 or BRCA2 - is known to increase a woman’s risk of breast cancer.

Women with the gene faults are advised to have regular screening for breast cancer and some, such as Angelina Jolie, choose to have preventative surgery, such as a double mastectomy, to limit their chances of breast cancer diagnosis.

But the study by the University of Southampton, of women between the ages of 18 and 40 years, found after treatment, there was no significant difference is survival rate between women who have a faulty gene and women who do not.

However, the researchers noted the results might not translate to older women with a BRCA mutation, as they were not involved in the study and more research would be needed in this area. 

This is of particular note as the majority of breast cancer cases (81%) occur in women over the age of 50.

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Faulty BRCA1 or  BRCA2 genes are inherited and these mutations place women at a greater risk of breast and some ovarian cancers.

Past studies have suggested 45%-90% of women with the mutation develop breast cancer during their lifetime, compared to roughly 12.5% of women developing breast cancer in their lifetime overall in the UK.

The study recruited young women with breast cancer between the years 2000 and 2008, when BRCA testing and risk-reducing surgery were not routine for early breast cancer (stage one or stage two).

The researchers noted previous evidence on whether carrying these types of mutation affects a woman’s cancer prognosis has been mixed.

The study involved 127 hospitals across the UK and included 2,733 women aged 18-40 years who had recently been diagnosed with breast cancer for the first time.

All women included in the study were tested for BRCA mutations, and 338 (12% carried one – including 201 women with a mutation in the BRCA1 gene and 137 with a mutation in the BRCA2 gene.

The researchers tracked the women a their treatment for more than eight years.

The majority of women (89%) underwent chemotherapy. Half had breast-conserving surgery (49%), half had a mastectomy (50%), and less than 1% had no breast surgery.

During the course of the study, out of the 2,733 women, there were 678 deaths, including 651 deaths from breast cancer, 18 from other cancers, and nine from other causes.

The study found that there was no difference in overall survival two, five or 10 years after diagnosis for women with and without a BRCA mutation. These findings remained similar regardless of whether mutations were in the BRCA1 or BRCA2 gene.

Commenting on the findings, Professor Diana Eccles, head of cancer sciences at the University of Southampton, said: “Our study is the largest of its kind and our findings suggest that younger women with breast cancer who have a BRCA mutation have similar survival to women who do not carry the mutation after receiving treatment.

“Women diagnosed with early breast cancer who carry a BRCA mutation are often offered double mastectomies soon after their diagnosis or chemotherapy treatment, however, our findings suggest that this surgery does not have to be immediately undertaken along with the other treatment.

“In the longer term, risk-reducing surgery should be discussed as an option for BRCA1 mutation carriers in particular, to minimise their future risk of developing a new breast or ovarian cancer. Decisions about timing of additional surgery to reduce future cancer risks should take into account patient prognosis after their first cancer, and their personal preferences.”

Professor Peter Fasching, from Friedrich-Alexander University Erlangen-Nuremberg, Germany, added: “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.”

The study is published in full in The Lancet Oncology journal.

Breast Cancer Signs And Treatment
What Are The Symptoms?(01 of10)
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"A new painless, firm breast lump with irregular margins is a potential symptom of breast cancer," says Dr. Sandhya Pruthi, a breast cancer researcher at the Mayo Clinic. "The cancer diagnosis is confirmed following a biopsy of the lump." She notes that usually, women who are newly diagnosed with breast cancer are healthy and don't feel sick at all. (credit:LarsZahnerPhotography via Getty Images)
Other Symptoms(02 of10)
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Another potential symptom/sign of breast cancer, Pruthi notes, is a new onset of persistent redness on the skin overtop the breast with an orange peel appearance. This would also need a biopsy to confirm a diagnosis of breast cancer. (credit:Image Source via Getty Images)
Metastatic Cancer Symptoms(03 of10)
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"If the cancer is very advanced (metastatic) then the symptoms may also include weight loss, bone pain, headaches, nausea and persistent cough," Pruthi says. (credit:pamela burley via Getty Images)
What Are The Risk Factors?(04 of10)
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Some commonly associated risk factors, Pruthi says, are menstruation before age 11, menstruation after age 54, a first pregnancy after age 35 and a family history of relatives diagnosed with breast or ovarian cancer. (credit:AP Photo/M. Spencer Green)
Are There Any Lifestyle Risk Factors?(05 of10)
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"There is evidence in the literature that obesity after menopause, lack of regular exercise, consuming greater than more or more alcoholic beverages daily, and a high fat diet can all be associated with a higher breast cancer risk," Pruthi notes. But, she points out, "women need to know that any woman can get breast cancer even in the absence of any of these risk factors." (credit:Adrian Samson via Getty Images)
Can I Eat Anything To Prevent It?(06 of10)
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There are no specific types of diets, Pruthi says, but rather women are encouraged to eat fruits, vegetables, fibre, and minimize their alcohol and fat intake, as well as get regular exercise. (credit:lola1960 via Getty Images)
How Do Doctors Determine Treatment?(07 of10)
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"The most current treatment of breast cancer has taken on a individualized approach and is dependent on the biology or aggressive features of the breast cancer," Pruthi explains. "Breast cancer is a heterogeneous disease and this means that are many sub-types and different degrees of aggressiveness. So staging, which typically takes into account common prognostic features such as tumour size and if lymph nodes are involved, are no longer the only factors doctors use to determine treatment options." (credit:Christopher Futcher via Getty Images)
So What Do They Look At?(08 of10)
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"Today the biology of the tumour is also characterized by molecular markers (also known as predictive markers) such as if the estrogen or progesterone receptor is positive or negative and if the HER 2 protein is positive or negative," she says. "This helps decide who will benefit from a specific chemotherapy regimen, hormonal medications known as antiestrogens or who may need both chemotherapy and hormonal treatment." (credit:BluePlanetEarth via Getty Images)
What About Preventative Mastectomies?(09 of10)
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"Preventive mastectomy is an option for women at very high risk for developing breast cancer because they are BRCA 1 or 2 gene positive or if someone has hereditary predisposition to getting breast cancer but chooses not to have the genetic testing done," Pruthi says. "It is prudent that women who are considering this surgery know their family history in detail. Based on the moderate or strong family history, your doctor would recommend you meet with a genetic counselor to go over the family pedigree and help decide who should test for the breast cancer gene, when to test and how to interpret the genetic test results before proceeding with this preventive surgery." (credit:Jesús Jaime Mota via Getty Images)
Are Other Preventative Treatments Available?(10 of10)
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"High risk women who have had precancerous breast biopsies or strong family history may also be eligible to take preventive medications such as tamoxifen, raloxifene or exemestane to reduce breast cancer risk," Pruthi adds. (credit:art-4-art via Getty Images)