Genetic Testing Is a Helpful Tool for Cancer Patients and Their Family Members
- CNN correspondent Sunlen Serfaty underwent preventative surgeries after genetic testing revealed she had a gene mutation called the PALB2 gene, making her more susceptible to breast and ovarian cancer.
- The PALB2 gene, which is referred to as the partner and localizer of the BRCA2 gene, provides instructions to make a protein that works with the BRCA2 gene protein to fix damaged DNA and stop tumor growth.
- Serfaty’s older sister battle ovarian cancer twice and her late grandmother fought breast cancer. The notable journalist, who put off getting genetic testing for years, is now hoping her decision to undergo genetic testing and preventative surgeries will inspire other women to do the same if needed.
- Genetic testing can help predict an individual’s cancer risk by looking at inherited gene mutations. These results can provide potentially life-saving information for patients who test positive for known mutations and who then can undergo preventative screenings or specific treatments for cancer.
- Women must weigh the pros and cons of cancer-prevention surgery in consultation with their doctors.
The notable journalist, who saw her older sister battle ovarian cancer twice and her late grandmother fight breast cancer, admitted to People she would often have doctors advise her to get genetic testing done so that she can know her cancer risk, but she never made it a priority.
Read MoreSeveral days later she discovered she’d tested positive for the PALB2 gene, making her more susceptible to breast and ovarian cancer.
The PALB2 gene, which is referred to as the partner and localizer of the BRCA2 gene, provides instructions to make a protein that works with the BRCA2 gene protein to fix damaged DNA and stop tumor growth.
CNN’s Sunlen Serfaty Recalls 'Ticking Time Bomb' Cancer Risk Before Preventative Double Mastectomy, Ovary Removal (Exclusive) https://t.co/rOvAhCAF19
— People (@people) April 2, 2024
Looking back on how she was told the gene mutation could raise her risk of developing breast cancer and ovarian cancer by 60%, she told the celebrity news outlet, “That day was such a dark day for me because immediately I felt the weight of something big on my back.
“I had two kids at the time. I was building this beautiful life with my family, and all of a sudden something was just laid on me that was uncontrollable. It was this ticking time bomb.”
She continued, “I went home and told my husband and it was almost like we pre-mourned what potentially could happen. We were almost grieving. It was a very hard conversation. And then the next morning I was like,’ Okay, let’s do something about this.'”
Serfaty then spent a few years seeing various doctors and undergoing screenings, appointments which all doctors told her she “definitely” should get her ovaries surgically removed as a safety precaution.
She chose to get the preventative procedures after having a third child last year.
RELATED: Should I Get Genetic Testing to Assess My Risk for Breast Cancer?
Serfaty, who was referred to an oncologist at Sibley Memorial Hospital in Washington D.C., is hoping her story can inspire others to undergo genetic testing and learn their cancer risks.
Prophylactic Mastectomy For High-Risk Women
“Knowledge is power. It was just turning that unfortunate bit of information into action. And I think one of the things that probably made the decision very easy was because I felt so incredibly lucky to have this information. This is information my sister did not have,” she explained to People.
“I felt like I was given such a gift because I saw her struggle and I’ve seen the depths of her sadness. I’ve also seen the magnitude of her bravery. Seeing her go through that really inspired me to take control of my health to do the thing that she could not do. She could not change her outcome but I potentially can. It would’ve almost been an affront to her if I ignored it.”
Expert Resources On Genetic Testing
Serfaty, mom to her daughter, aged 6, and two sons, aged 4 and 7-months, has never been more grateful to have undergone the surgery as she no longer has to stress about the what ifs.
She concluded, “The best thing is the mental load is off. I feel incredible relief knowing that this is not on my shoulders. I just feel such incredible gratitude to have control over my health when so many women do not have that control. And if I can be public about that message, if I can help another woman who may be considering getting this screening, I just want to say do it. It’s scary. It is. But you will be given a gift of knowledge if you know about your own potential health risk.”
The Pros and Cons of Prophylactic Surgery for Ovarian Cancer
Evaluating Cancer Risk
Genetic tests can be as simple as a simple 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.
“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, previously told SurvivorNet.
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.
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.
Where can you get help after undergoing genetic testing?
“If someone gets a genetic test result back, it’s really important for them to know what this is. (What does this) mean for them? Put it into context,” Dr. Elisa Port, a surgical oncologist at Mount Sinai, previously explained to SurvivorNet.
Genetic counselors help patients during this critical phase of understanding.
“What does it mean for their family members? For their relatives? Genetic counseling to follow up genetic testing is a really, really important part of the whole process and is not always available in the direct-to-consumer type avenue.”
According to the U.S. Centers for Disease Control and Prevention, your doctor can refer you for genetic counseling based on your personal and family health history.
Understanding Genetic Testing
The most common gene mutations are the BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) mutations. It’s important to note that if a parent carries a BRCA gene mutation, there’s a 50-50 chance you could be carrying it too.
Dr. Julie Rani Nangia, an assistant professor at Baylor College of Medicine, previously told SurvivorNet about 10 percent of patients who undergo genetic testing will test positive for the BRCA1 or BRCA2 gene, but an additional 5 to 6 percent will test positive for other genes.
Other gene mutations that can lead to inherited breast cancer outside of PALB2 and the BRCA genes include ATM, TP53, CHEK2, PTEN, CDH1 and STK11. These gene mutations, however, are much less common and most of them don’t increase the risk of breast cancer as much as the BRCA and PALB2 mutations.
And for cancers like pancreatic and ovarian cancer that can have very hard to spot symptoms, genetic testing can sometimes lead to an earlier diagnosis which generally means better treatment outcomes. Dr. Anirban Maitra, the co-leader of the Pancreatic Cancer Moon Shot at MD Anderson Cancer Center, previously told SurvivorNet that the prognosis for pancreatic cancer is not always good.
“By the time individuals walk into the clinic with symptoms like jaundice, weight loss, back pain or diabetes, it’s often very late in the stage of the disease,” Dr. Maitra said. “And, unfortunately, most will die from this disease within a few months to a year or so from the diagnosis.”
RELATED: Explore SurvivorNet’s digital guide to next-generation sequencing for breast cancer.
But genetic testing can provide people with greater knowledge to work with when considering their risk for the disease.
“If you’re concerned about pancreatic cancer in your family, start by talking to a genetic counselor to learn more about your risk and what options you have,” Jessica Everett, a genetic counselor at NYU Langone’s Perlmutter Cancer Center, said.
Genetic testing can be used in cases like Sunlen Serfaty’s for preventative measures, but it can also be very helpful in navigating treatment options after a cancer diagnosis. With ovarian cancer, for example, BRCA 1, BRCA 2, PALB2, ATM gene mutations can point doctors toward PARP inhibitors which work by preventing cancer cells from repairing their own damaged DNA.
Genetic Testing Can Help Guide Ovarian Cancer Treatment Decisions
“Certain individuals with ovarian cancer, if they proceed with genetic testing and they test positive in specific genes, they might benefit the most from having PARP inhibitor medicine prescribed for them as treatment for their ovarian cancer,” says Lauren Mills, a genetic counselor at UT Health San Antonio, adding that women who test negative for mutations in these specific genes may also benefit from PARP inhibitors.
Overall, genetic testing can be a great way to better understand your risk of developing certain cancers as well as best potential treatment options if you’ve been diagnosed with a certain cancer.
What are some Popular Genetic Test Panels?
Breast cancer genetic testing began with Myriad Genetics when they introduced a genetic test for the two BRCA genes more than two decades ago. This test used to cost thousands of dollars. Testing has since expanded exponentially in its scope and become far cheaper and more accessible. Some modern gene panels can analyze more than 80 genes, which could contribute to the development of breast, ovarian, colon, and many other cancers. Popular panels include but are not limited to:
- MyRisk by Myriad Genetics: This is a direct-to-consumer test that analyzes 35 genes that may be relevant to the clinical management of numerous cancers. Breast cancer is one of them. Notably, it integrates genetic analysis with family and personal history to provide a more holistic assessment of cancer risk. It can be performed on any patient, including those who have not yet developed breast cancer. After obtaining the results, the patient and their physician can decide on a number of preventative or treatment strategies.
- 23andMe DNA Testing: A direct-to-consumer test, 23andMe has been approved by the FDA to test for genes that may contribute to many cancers, including breast and prostate cancers.
- Invitae multi-cancer panel: Another direct-to-consumer text, which tests more than 80 genes to screen patients for proclivity towards certain inherited cancers, including breast.
- Color Health Genomics Test: This test is ordered via a physician and assesses 30 genes to screen for mutations that may lead to a higher risk of cancer development. They include genes that are relevant for colon, stomach, melanoma, pancreatic, uterine, and breast cancers.
- OncotypeDX: The test is administered to women diagnosed with early-stage, hormone receptor-positive (Estrogen, Progesterone), and HER2-negative breast cancers. It is ordered by a physician and requires cancer tissue usually extracted from either biopsy or surgery. It analyzes 21 genes and outputs a numeric score, which ranges from 0-100. The higher the score, the more the chance of cancer returning after treatment. Such people are usually given chemotherapy in addition to hormone therapy to mitigate their risk.
- Guardant360 CDx: This is a blood test sometimes called a liquid biopsy, which analyzes dozens of genes recommended by the National Comprehensive Cancer Network (NCCN). This includes the 55 genes relevant to cancers, including breast cancer. It is usually done in a patient with a later stage breast cancer, such as stage III and IV, and can guide the selection of the most efficacious treatment option.
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?
Contributing: SurvivorNet Staff
Learn more about SurvivorNet's rigorous medical review process.
