TL;DR:
- Breast cancer risk in South Africa has risen to about 1 in 29 women, with a global 1 in 8 lifetime risk.
- Around 90% of breast cancers are sporadic, only about 10% are linked to inherited mutations like BRCA-1 and BRCA-2.
- Dr Nedic explains BRCA-1 carriers face up to an 85 to 90% lifetime risk of breast cancer and a 33% risk of ovarian cancer.
- Angelina Jolie’s public BRCA-1 diagnosis and preventive double mastectomy are discussed as a case study.
- South African specialists Dr Carol Ann Benn and Dr Owen Nosworthy weigh in on risk-reducing mastectomy and when it’s appropriate.
- DNA/BRCA testing lets women understand their personal risk and make informed decisions, even without a family history.
Dr. Nedic, featured in Longevity magazine, explains hereditary breast cancer…
Choosing Life
if you could see into the future and know your health risks – what would you do?
The facts are simple: breast cancer is on the increase. In South Africa alone, one in 29 women are diagnosed with breast cancer annually – in comparison with the one-in-31 statistic 10 years ago.
The World Health Organization reports that breast cancer kills around 458 000 people each year, and we have a one-in-eight chance of developing breast cancer within our lifetime. One. In. Eight. Look around you. This statistic means that you, or someone close to you, be it a family member, friend or work colleague, will get breast cancer – guaranteed.
And, research shows that 90% of all breast cancers are sporadic. This means that for 90% of us, there are no brightly lit arrows pointing down at our heads, warning us of these dangers. However, for a lucky 10% of the population, there is a warning: the BRCA.
Dr Sly Nedic, an aesthetic and anti-aging practitioner based in Johannesburg who has a specialty in DNA analysis, says only about 10% of breast cancers can be linked directly to inherited mutations. “Since the identification of several SNPs responsible for the familial cases, this area has undergone remarkable evolution.”
Nedic explains that the tumor suppressor for BRCA-1 has been identified. “Women who inherit a mutated allele from either parent have an approximately 85% to 90% lifetime chance of developing breast cancer (with 70% risk of breast cancer by the age of 60), and a 33% chance of developing ovarian cancer. Men who carry a mutant allele have an increased incidence of prostate cancer, but usually not breast cancer.”
Another one, BRCA-2, has also been associated with an increased risk of breast cancer. As these mutations are high penetrance/ low-frequency mutations which do not make up the majority of breast cancers, they are found in only 10% of the population.
Nedic says the testing is easily performed, and it is vital to undergo the counseling, both prior to and after the results. As BRCA-1 is linked to a high incidence of breast cancer, carriers of this mutation may want to consider a double mastectomy. “Preventive measures which are usually advocated in cases of sporadic breast cancers cannot be used in the case of these inherited mutations,” she adds.
You simply cannot change your inherited make-up. This is the reality that actress, humanitarian and mother Angelina Jolie faced. As she shares in her opinion piece My Medical Choice, published in the New York Times in May, her mother, Marcheline Bertrand, bravely fought cancer for almost a decade before succumbing at 56. As a mother herself, Jolie says she has had to explain to her children the illness that took away their grandmother, and assuage their fears that the same could happen to her. And, yes, it could have. reduce her risk. She tested positive for the BRCA-1, with her personal results revealing that she had an 87% risk of developing breast cancer and a 50% risk of ovarian cancer in her lifetime. The statistic is different for each woman who tests positive. As she rightly notes, only a fraction of breast cancers results from an inherited mutation. Those with a defect in BRCA-1 have, on average, a 65% risk.
“Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much as I could. I made a decision to have a preventive double mastectomy.”
Jolie underwent her first procedure in February and the last in April. She started with a nipple delay, a procedure that increases the chances of saving the nipple. This was followed two weeks later with the mastectomy itself, an operation that can take up to eight hours. “You wake up with drain tubes and expanders in your breasts. It does feel like a scene out of a science-fiction film. But days after surgery you can be back to a normal life,” she said. Nine weeks later, Jolie had her final her breasts with implants. “I wanted to write this to tell other women that the decision to have a mastectomy was not easy. But it is one I am happy that I made. My chances of developing breast cancer have dropped from 87% to under 5%.”
The decision to undergo a prophylactic (or risk reduction) mastectomy is not based on any one factor, says Dr Carol Ann Benn. A specialist surgeon with an interest in breast disease, Benn heads up both the Helen Joseph Breast Unit and the Netcare Breast Care Centre of Excellence, and lectures in the Department of Surgery at the University of the Witwatersrand. She says the removal of so-called healthy breast tissue creates an intensive debate, among both clinicians and women themselves. Benn adds that the term “prophylactic mastectomy” is not entirely accurate. “Prophylaxis means to prevent, and although with the techniques used for mastectomies today, over 98% of breast tissue can be removed, this is never 100%. Therefore, the correct terminology would be a risk-reducing mastectomy.”
There are two types of risk-reducing surgery currently offered in South Africa: one is a bilateral skin-sparing mastectomy, usually with immediate reconstruction; the second is for those women who have been diagnosed with breast cancer, who wish to undergo an opposite-side mastectomy. Dr Owen Nosworthy, a specialist physician and medical oncologist at Wits Donald Gordon Medical Centre, explains that the preventive bilateral mastectomy is still a relatively uncommon procedure.
“Unfortunately, no true statistics exist for South Africa, but approximately one in 100 women who have surgery for breast cancer will opt for the preventive bilateral mastectomy. It is much more common for women to undergo a single mastectomy or breast-conserving surgery. The bilateral mastectomies generally happen only in women who have confirmed BRCA mutations or have a very strong family history.” He adds that the double mastectomy is an extremely involved procedure, taking a number of surgeries and reconstructions. “It requires very thorough counselling prior to considering it, as well as a very committed patient.” This consideration should be taken only in consultation with a breast cancer specialist. “The type of hereditary cancer found in Angelina Jolie is extremely rare, and the type of surgery she underwent is extreme. In the vast majority of women, such an extreme approach is not needed. However, any woman with a family history of breast cancer who is concerned should consult their doctor to discuss their individual risks for the disease,” says Nosworthy. The only way to know if you carry a BRCA mutation is to undergo DNA analysis. A positive result will then allow you to make an informed decision, according to your own personal risk factors. However, the experts all say that, unfortunately, in 90% of breast cancers, there may be no real warning signs that you are at risk.
Nedic comments that, often, patients who have a family history of breast cancer, but who have not been found to carry the cancer mutation, think that the risk of breast cancer does not exist. “Family history of breast cancer is a well-confirmed risk factor for breast cancer, even if your BRCA mutations are not identified,” she says. Lifestyle and environmental factors play a big role in both increasing and lowering your risk of breast cancer, as this is a hormone-dependent disease. Stress also plays a major role in increasing your risk, as does late onset of menopause (post-age 54), early puberty (your first period before the age of 12), hormone replacement therapy, oral contraception, alcohol consumption, a diet high in saturated fats, and so on. So, if you are lucky enough to get a heads-up, like Jolie did, why not take action? As Jolie concludes: “I choose not to keep my story private, because there are many women who do not know that they might be living under the shadow of cancer. It is my hope that they, too, will be able to get tested, and that if they have a high risk, they, too, will know that they have strong options. Life comes with many challenges. The ones that should not scare us are the ones we can take on and take control of.”
Those at risk of Breast Cancer
- Women (men get breast cancer, too, but the risk is lower);
- Women who have a strong family history of a close relative, such as a mother or sister, having breast cancer;
- Women with a confirmed risk factor, such as the BRCA mutation, in the family;
- Women who have been taking hormone-replacement therapy – most significantly if it has been longer than five years; and
- Women who have never had children or who had their first child later in life (after the age of 40).
Source: Dr Owen Nosworthy
The facts:
- Around 5% to 10% of breast cancers are believed to be hereditary and can be inherited from either your mother’s or father’s side of the family.
- About 20% to 30% of women with breast cancer have a family member with the disease. Conversely, 70% to 80% of women who get breast cancer do not have a family member with the disease.
- Breast cancer in a first-degree relative can double your risk.
- Having two first-degree relatives with breast cancer increases your risk fivefold.
- BRCA-1 carries up to an 80% chance of developing breast cancer in your lifetime, and an increased risk of ovarian cancer.
- BRCA-2 carries a similar breast-cancer risk.
- A negative BRCA test does not exclude breast cancer possibility
- Source: Dr Carol Benn