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An Unimaginable Choice

By Dr. Sharon McQuillan
Posted On Sep 24, 2015


Much attention has been given to Angelina Joelie’s diagnosis of the BRAC1 gene, and her subsequent preventative double mastectomy.


In February of this year, actress Angelina Jolie— confronted with her high genetic risk for breast cancer—made the rational choice to preserve her health and undergo an elective bilateral mastectomy. Two months later, she shared this choice with women around the world, displaying the kind of selfless and inspiring behavior we have come to expect from her.

It is highly unusual (extraordinary, really) for a beauty icon to tarnish her glamorous image in favor of creating awareness of genetically linked breast and ovarian cancers. But then, Jolie has always used her celebrity status as a positive humanitarian force. In her “special envoy” role with the United Nations, she has worked tirelessly to provide shelter, food, and medical care to refugees and displaced people throughout the world. Now, she seems to have chosen another worthy cause to champion: a provocative approach against breast cancer.  ??ian cancer. Marcheline Bertrand, Jolie’s mother, died at age 56, following an eight-year battle with ovarian cancer. Bertrand’s cancer was likely linked to this same genetic mutation.

In an effort to protect her health and to prevent her own children from experiencing this same loss, Jolie elected to short circuit her genetic fate and have her breast tissue, ovaries, and fallopian tubes prophylactically removed. These events have brought genetic testing—as well as breast and ovarian cancer management—into the spotlight. However, very little practical knowledge or guidance exists for women with regard to managing their own health risks.

BRCA1 and BRCA2 belong to a class of genes called tumor suppressors that normally ensure the stability of cell DNA and prevent uncontrolled cell growth, thereby preventing the forma??marily lead to increased risk of developing breast and ovarian cancers. These mutations have also been shown to increase the incidence of melanoma as well as prostate, cervical, pancreatic, gastric, gallbladder, bile duct, and colon cancers. If anyone— woman or man—inherits a faulty variation of this gene, the risk for developing cancer increases. It does not, however, guarantee that they will develop cancer in their lifetime.
American women face a 12 percent risk of developing breast cancer.

The risk becomes 50 to 85 percent when they have a hereditary breast and ovarian cancer (HBOC) syndrome due to mutations in the BRCA1 and BRCA2 genes. Although ovarian cancer is less common than breast cancer, and seen in less than 1 percent of American women, the risk is between 15 and 40 percent for patients with HBOC. We do not typically associate ?ulation) but this risk increases to about 6 to 10 percent in men with HBOC. Genetic testing allows everyone the opportunity to understand and manage risks for these hereditary disorders.

Most women who develop breast and ovarian cancer do not have a BRCA mutation. Mutations are identified in approximately 10 percent of patients with breast cancer, and less than 15 percent of patients with ovarian cancer. If you suspect that you are at risk for HBOC, the first step in determining risk is working with a physician to evaluate your personal and family medical ?ing—usually involves a risk assessment and discussions about the indications for genetic testing, the accuracy of testing methods, ?ative test result, and the risk of passing a mutation on to children. The results of genetic testing are both confidential and privileged information. In 2008, the Genetic Information ?ing discrimination based on genetic information in relation to health insurance and employment. The law does not, however, cover life insurance, disability insurance, or long-term care insurance. When applying for these types of insurance, people may be asked to sign forms that give an insurance company permission to access their medical records.


The insurance company may take genetic testing results into account when making decisions about ?ance companies for high-risk patients. ?ing as much of the “at-risk” tissue as possible to reduce the chance of developing cancer. Although bilateral prophylactic mastectomy (the removal of healthy breasts) and prophylactic salpingo-oophorectomy (the removal of healthy fallopian tubes and ovaries) dramatically reduces the risk of cancer, it does not reduce the risk to zero. Even with meticulous surgery, 100 percent of the at-risk breast or ovarian tissue is not removed. However, the menopausal, prophylactic bilateral salpingo–oophorectomy decreases the risk of breast cancer by 50 percent and the risk of fallopian tube and ovarian cancer to 1 to 2 percent or less. Prophylactic ?cent, to below 10 percent. In conjunction with prophylactic salpingo–oophorectomy, it is reduced by 95 percent.

Prophylactic mastectomy has become more appealing in ?tectomy and reconstruction. However, recent data shows that ?tion will undergo prophylactic mastectomies. Over the last few decades, we have learned that we can spare the skin, the areola, and even the nipple without substantial increases in breast cancer risk. Nipple-sparing mastectomy allows women to retain all of the skin of the breast and the nipple, allowing for a more natural appearance of a reconstructed breast. Advances in reconstructive techniques include options using a patient’s own tissue, as well as improvements in implants. These advances have helped to make the choice of undergoing prophylactic mastectomies easier.

Since 1998, federal law has mandated that insurance policies cover reconstructive surgeries for breast cancer patients. However, laws are less clear for prophylactic mastectomies. That said, surveys show that women with genetic mutations who instruction have not had trouble getting their surgeries covered. ?cer have breast reconstruction after mastectomy, due to a lack of education, according to James Stern, MD, board-certified plastic surgeon in South Florida. Conversely, women considering risk-reducing bilateral prophylactic mastectomy tend to be a unique ?tion regarding reconstructive options. They are significantly more likely to have immediate breast reconstruction. Studies have shown that women have markedly better body image and self-esteem when they have immediate reconstruction.

??cipitate early menopause—which places women at risk for osteoporosis, memory impairment, mood disorders, insom??mone replacement with bio-identical hormones can alleviate these symptoms,” says Neal Rouzier, MD, medical director of ?entific evidence that it increases the risk for developing cancer after prophylactic mastectomy or oophorectomy.” However, estrogen may cause certain types of cancer to grow more rapidly. Supplements containing black cohosh, calcium, magnesium, and amino acids can control symptoms. Quality-of-life issues and health concerns need to be carefully weighed in order to deter?mine the best individual therapy for you.

Surveillance is another form of risk management, and involves implementing aggressive screening strategies. This method does nothing to prevent HBOC or to reduce the risk of developing cancer, but attempts to diagnose it at an earlier stage. Intensive screening for breast cancer is recommended beginning at the age of 25—or 10 years earlier than your youngest relative was diagnosed. Breast cancer screening includes mammography, MRI, biannual clinical breast examination, and monthly self-examination. Ovarian cancer screening includes pelvic ultrasounds and blood tests every six months, and normally begins at the age of 35,
or five to 10 years earlier than your youngest relative with ovarian cancer was diagnosed.

This path is taken by women who want to preserve fertility, are not ready for surgery, or choose not to proceed with prophylactic surgery. Chemoprevention is the third avenue women with HBOC can take, in addition to increased surveillance. For ovarian cancer, this involves the use of oral contraceptives, shown to reduce ovarian cancer risk by approximately 5 percent per year—up to 50 percent at 10 years of use.

For breast cancer risk, estrogen blocking medications such as Tamoxifen have been used, which have been shown to reduce the risk of developing estrogen-sensitive breast cancers in high-risk women by 50 percent. However, there is not much data evaluating their benefit for breast cancer prevention in patients with genetic mutations. Although BRCA genetic testing has given the highest risk women a valuable way to manage their cancer risk, there are simple but important lifestyle changes that all women should implement.

The goal of these changes is to reduce the risk of developing more common forms of breast and ovarian cancer, which account for 90 percent of all breast cancers and 85 percent of all ovarian cancer cases. We can stack the deck against breast and ovarian cancers with common sense, a healthy diet, exercise, avoidance of cigarettes, moderated intake of alcohol, and informed choices about hormonal therapies. There are a number of viable options available to you. The only factor that is not an option is ignorance. Indications for BRCA genetic testing  Positive responses to any of the following are an indication for BRCA genetic testing:


? Has had breast cancer at age 50 or younger
? Has had ovarian cancer at any age
? Is male and has had breast cancer at any age
? Is of Ashkenazi Jewish descent and has a personal or family history of breast, ovarian, or pancreatic cancer


? Has had two breast cancers in the same person or on the same side of the family
? Has had somebody diagnosed with triple negative breast cancer at any age
? Has had pancreatic cancer and an HBOC-associated cancer in the same person or on the same side of the family
? Has three or more family members with breast cancer on the same side of the family
? Has had a previously identified BRCA1 or BRCA2 mutation in the family

What Every Woman Should Know About Reducing the Risks of Breast and Ovarian Cancer


? Eat a low-fat diet, which will help prevent obesity. The maintenance of a healthy weight is key, as obesity increases breast and ovarian cancer risk.
? Participate in strenuous physical activity for more than four hours a week, which decreases the relative risk of breast cancer by 30 to 40 percent.
? Moderate alcohol consumption: The relative risk of breast cancer increases by 7 percent for each drink per day, compared to nondrinkers.
? Breastfeeding: The relative risk of breast cancer is decreased by 4.3 percent for every 12 months of breastfeeding.
? Use of oral contraceptive pills for 10 years reduces the risk of ovarian cancer by 50 percent. There is no evidence that it increases long-term breast cancer risk.
? Be aware of environmental chemical exposure, although research does not currently show a link between PCBs (Polychlorinated Biphenyls) and cancer risk.
? Don’t smoke, and avoid secondhand smoke.


? Perform self breast exams monthly.
? Get a mammogram once a year if you are over the age of 40, and additional imaging if it is necessary.
? See your doctor if you detect any lumps, irregular tissue, or experience discharge from the nipple, even if your mammograms have been normal.