How Genetic Testing Helps Guide More Efficient Treatment
- “Today” show TV host Jill Martin, 47, is preparing for a year-long journey as part of her ongoing breast cancer treatment. She’s taking the medication she says will help her body fight cancer and keep it away.
- Martin’s latest treatment, Lynparza, is a PARP inhibitor that works by preventing cancer cells that have been damaged by chemo from being able to heal themselves.
- 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. The results help doctors tailor your treatment and are helpful for breast cancer patients.
- Germline genetic testing for inherited predisposition for breast (and ovarian) cancer can include just BRCA1 and BRCA2 testing (gene mutations that elevate cancer risk) or a more comprehensive gene panel that might include 15-25 genes.
“Steals and Deal” guru Jill Martin, 47, continuously and bravely shares her day-to-day experience battling breast cancer.
After undergoing a double mastectomy (removal of both breasts) and grueling chemotherapy, she’s now started medicine she’ll take for the next year that targets the BRCA gene mutation, which increases breast and ovarian cancer risk.
Martin’s bravery and vulnerability have helped many women battling breast cancer find strength and support on their journeys because, through the popular TV host, they knew they were not alone.
Martin says she’s “scared for sure” but insists her body has been strong and it will “continue to fight.”
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“My surgeon and now dear friend Dr. Elisa Port gave me incredible advice when I first started this journey, which I think about every day. These pills are not working to HURT me; they are working to HELP me,” Martin explained.
It’s all in the mindset, and remaining positive is how Martin has coped during her cancer journey.
“It is the way I thought about chemo. Instead of making it something that is attacking my body, it is fighting for me to help me battle,” Martin said.
How Genetic Testing Helps Cancer Patients
- 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
- Genetic Testing For Breast Cancer Can Be Life-Saving For Some: For Others, It Only Causes Confusion and Stress
- Getting Genetic Testing for Your Kids — a Tough, but Crucial Call
Understanding Martin’s Latest Treatment
The FDA also approved the use of PARP inhibitors for the frontline treatment of ovarian cancer and in the maintenance setting. These drugs have typically been most influential in women with certain genetic mutations or markers, including BRCA mutations and homologous recombination deficiency (HRD), a defect in a cell’s ability to repair its DNA.
WATCH: Understanding the BRCA Gene Mutation
Which Gene Mutations Are Important to Look for in Breast Cancer?
Dr. Julie R. Gralow, the Chief Medical officer and the Executive Vice President of the American Society of Clinical Oncology, tells SurvivorNet that “Germline genetic testing for inherited predisposition for breast (and ovarian) cancer can include just BRCA1/2 testing or a more comprehensive gene panel that might include 15-25 genes.”
Related: Genetic Testing for Breast Cancer: What is This Type of Test? And What Do My Results Mean?
The infamous BRCA1 and BRCA2 gene changes are still the most important ones to look for in breast cancer. Together, they are responsible for about half of all hereditary breast cancers. These genes prevent cells from dividing haphazardly and uncontrollably in a person without mutations.
Mutations prevent these genes from doing their job and can allow unchecked growth of breast, ovarian, and other tissues. This voracious growth paves the path for cancer development.
BRCA1 and BRCA2 gene mutations increase the risk of developing breast cancer by up to 85% during their lifetime. To break it down, only 13% of all women will develop breast cancer during their lifetimes. If they carry the mutations, their risk increases to 45%-72%, depending upon their exact mutation.
The presence of such mutations can have a significant impact on the treatment options for women carrying them. “Presence of a BRCA1/2 gene mutation (or others associated with high risk) may impact surgical decision-making in a patient who is newly diagnosed with breast cancer,” says Dr. Gralow.
“It should not really impact treatment of the current cancer (eligibility for lumpectomy versus mastectomy), but the presence of such a mutation carries a very high risk of developing a second breast cancer, so bilateral mastectomy is a reasonable consideration to reduce the risk of second cancer.”
Research has also identified other mutations that may increase the risk of breast cancer. These include changes in PALB2, ATM, CHEK2, KRAS, CDH1, TP53, PTEN, and numerous other genes. Modern genetic testing panels can simultaneously look for mutations in more than 80 genes.
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.
Martin’s Journey So Far
Martin was diagnosed with stage 2 breast cancer in 2023. Her diagnosis came shortly after she underwent genetic testing and learned she carried the BRCA gene mutation, which increased her cancer risk.
After Brooks learned she carried the BRCA gene, she planned to get a preventative mastectomy to minimize her cancer risk. The procedure Brooks attempted to pursue is a prophylactic or preventive mastectomy, which removes breast tissue to prevent cancer from developing. This procedure is an option for women at higher risk, such as Brooks, who carried the BRCA gene mutation.
WATCH: How Testing for BRCA in Breast Cancer Works.
Brooks’ treatment involved chemotherapy, radiation, and a double mastectomy (removal of both breasts), and she had 17 lymph nodes removed.
She also underwent chemotherapy, which she openly documented on her social media channels, most notably her fight to preserve her hair with a scalp-cooling device also called cold caps.
WATCH: What is a scalp-cooling device?
Scalp-cooling devices have been approved by the FDA recently, first for breast cancer and then several other cancers.
That means wearing cold caps or special cooling caps before, during, and after each chemotherapy treatment.
The caps, which are tightly fitting and strap-on helmet-style, are filled with gel coolant chilled to -15 to -40 degrees Fahrenheit.
Essentially, the caps “cause vasoconstriction, or a narrowing of the blood vessels bringing blood to the scalp,” Dr. Renata Urban, gynecologic oncologist at the University of Washington, explains.
By constricting the blood flow to the scalp, the caps limit the circulating chemotherapy that reaches the hair follicles, protecting them from some of the chemo’s damaging effects.
The cold also decreases the activity of the hair follicles, slowing down cell division and making the follicles less affected by the chemotherapy medicine.
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