Genetic Testing Is a Helpful Tool for Cancer Patients and Their Family Members
- Actress Angelina Jolie is getting praise for helping bring awareness to genetic testing that looks for the BRCA gene mutation, which increases your risk for cancer, including breast and ovarian.
- The “Girl, Interrupted” star underwent a prophylactic or preventative mastectomy in 2013. In 2015, Jolie underwent a bilateral salpingo-oophorectomy, which removed her ovaries and fallopian tubes to reduce her cancer risk since she carries the BRCA gene mutation.
- The genetic test may involve a simple blood test, saliva sample, or tissue collected through a biopsy. Test results may also influence possible treatment.
- The results help your care team determine if you have a specific mutation that puts you at higher risk for cancer. The results help doctors tailor your treatment and are helpful for breast cancer patients.
- A double mastectomy is a procedure that removes both breasts. Some women choose this procedure to reduce their risk of cancer, especially if they have a family history of cancer or possess the BRCA1 and BRCA2 gene mutation, which also increases your risk.
- Genetic counselors help patients better understand the results of genetic testing. Patients should ask their care team for a counselor if they’ve undergone genetic testing.
Actress Angelina Jolie, 48, impact on breast cancer advocacy is as powerful as her roles on screen. When she helped raise awareness of the BRCA gene mutation, which increases your risk of breast and ovarian cancer years ago, she sparked curiosity among countless women to learn their cancer risks through genetic testing.
Genetic tests can be as simple as a saliva swab or blood sample. The results help your care team determine if you have a specific mutation that puts you at higher risk for cancer.
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“I do not feel any less of a woman. I feel empowered that I made a strong choice that in no way diminishes my femininity,” Jolie said about her decision to get a prophylactic double mastectomy (removal of both breasts) and a bilateral salpingo-oophorectomy (removal of the ovaries and fallopian tubes) to reduce her cancer risk because she carries the BRCA gene mutation.
“When she shared her story publicly, what followed is known as the ‘Angelina Jolie Effect.’ Women across the world began looking at their family cancer histories, undergoing genetic testing and learning of their own genetic predispositions to cancer, and risk-reducing actions similar to Angelina’s,” My Faulty Gene said in a caption.
Genetic testing for cancer is usually done in a doctor’s office (either your primary care doctor or an OB-GYN), but there are a few tests available for people to purchase commercially.
“It started out with a very narrow field of women and men who were recommended to have it based on certain risk factors, family history of breast cancer, or other cancers, and also ethnic backgrounds,” Dr. Elisa Port, a surgical oncologist at Mount Sinai, told SurvivorNet.
The National Comprehensive Cancer Network (NCCN) recommends testing only select patients with risk factors for hereditary breast cancer. These include but are not limited to patients who were younger than 45 years old when they were diagnosed with breast cancer, those with a strong family history of this cancer, and those with Ashkenazi Jewish heritage. The American Society of Breast Surgeons (ASBrS) recommends offering genetic testing for all patients diagnosed with breast cancer.
How Genetic Testing Helps Cancer Patients
- Men With BRCA Gene Have More Than DOUBLE The Risk Of Developing Prostate Cancer, New Research Suggests
- Genetic Testing Can Empower You With Important Information
- Genetic Testing Can Help Guide Ovarian Cancer Treatment Decisions
- Considering Genetic Testing? Talk to Family if You Can
- Getting Genetic Testing for Your Kids — a Tough, but Crucial Call
Angelina Jolie Effect
Angelina Jolie helped popularize BRCA genetic testing in 2013 after she penned an op-ed in the New York Times revealing she had the BRCA1 gene mutation. In her memorable piece, she noted the gene mutation increased her risk of breast cancer by an estimated 87% and her risk of ovarian cancer by 50%.
“Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much (as) I could,” Jolie writes. “I made a decision to have a preventive double mastectomy (removal of both breasts). I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex.”
“But I am writing about it now because I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today, it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.”
Jolie, who is a mother of six, had her ovaries and breast removed after her mom, Marcheline Bertrand, passed away after battling breast and ovarian cancers.
Colloquially called the “Angelina Jolie Effect” or “Jolie gene” test, the impact of the actress’ op-ed prompted a notable spike in BRCA gene testing. The new test was created to determine the women who are at the most significant risk of developing breast cancer and ovarian cancer because of a specific gene mutation, the BRCA gene mutation. According to a 2016 Harvard Medical School report, “Researchers estimated that in the span of two weeks, the op-ed may have precipitated 4,500 more BRCA tests than would have normally occurred during that time period nationally at a price tag of $13.5 million.”
What If You Have the BRCA Gene Mutation?
If you discover that you do have a mutation, there are options available to manage your cancer risk, which include enhanced screenings; prophylactic (risk-reducing) surgery, which involves removing as much of the “at-risk” tissue as possible; and chemoprevention, the use of medicines to reduce the risk of cancer.
WATCH: Understanding the BRCA Gene Mutation
If you do discover you have ovarian cancer, it actually can be advantageous to have a BRCA mutation, as long as you are being treated with a PARP inhibitor, a drug therapy that was developed and approved by the FDA beginning in 2014. PARP inhibitors work by blocking the protein PARP from repairing the damaged DNA that can lead to cancer. These inhibitors kill the dangerous cells but leave the healthy ones intact, which is exactly what you want to happen.
“The PARP inhibitor prevents the repair of the (damaged) single-strand DNA break, and your BRCA mutation prevents the repair of the double-strand DNA break,” Dr. Rebecca Arend, Associate Scientist at the University of Alabama, Birmingham, explains to SurvivorNet.
What to Consider When Weighing Preventive Mastectomy?
A prophylactic, or preventative, mastectomy is an operation where the breast tissue is removed to prevent cancer from developing in the future.
“Risk-reducing mastectomies are an operation where we take women at, usually, very high-risk for getting breast cancer for genetic mutation carriers, who are the ones at the highest risk; there’s unfortunately only one way to actually prevent breast cancer,” Dr. Elisa Port, Chief of Breast Surgery at Mount Sinai Health System, tells SurvivorNet.
WATCH: What to Consider When Thinking About a Mastectomy
“Women who are found to test positive for a genetic mutation really have two options,” Dr. Port explains. “One is what’s called high-risk surveillance, which means we check them every six months or so mammograms, MRIs with the hope that if God forbid, they develop breast cancer, we pick it up early. But that’s not prevention; it’s early detection.
“Early detection is a goal; it’s not a guarantee. For the woman who wants to be more proactive about actually preventing breast cancer, or as we say reducing her risk, unfortunately, the only way to do that is to remove the actual tissue at risk, and that is the breast tissue,” she adds.
Some women decide to have their breasts reconstructed and have implants put in right after the mastectomy, while others don’t have reconstruction at all.
The benefits of a prophylactic or preventative surgery are:
- Significant reduction in cancer risk (from 80-90% to 1-2%)
- Nipples can often be spared
- Women can get reconstruction at the same time
Questions to Ask Your Doctor
If you’re facing the option of having a mastectomy, here are some questions to consider asking your doctor:
- What can I do to prepare for a double mastectomy?
- What happens before and after the procedure?
- For reconstruction, what are the benefits of using implants over my own tissue and vice versa?
- What should I know about implants? Should I opt for preventative surgery?
- What will recovery look like after the procedure?
- What are the benefits of a watch & wait approach vs. preventative surgery?
- What kind of surveillance is required after the surgery?
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