Taking Proactive Steps to Reduce Your Cancer Risk
- Actress Jackie Tohn learned she carried a BRCA1 mutation after her father’s diagnosis of BRCA‑associated male breast cancer, placing her at significantly elevated lifetime risk and prompting proactive risk‑management discussions.
- Guided by genetic testing and clinical counseling, Tohn elected to undergo a prophylactic (preventive) mastectomy, the most effective risk‑reduction strategy for individuals with high‑risk hereditary breast cancer mutations.
- A prophylactic, or preventive, 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.
- New research published in the medical journal ESMO Open shows BRCA1/2 carriers also face elevated risks beyond breast and ovarian cancers. Thyroid, bladder, melanoma, head and neck, pancreatic, and prostate cancer risks are also elevated with BRCA1/2, underscoring the need for broader surveillance and personalized medicine.
- 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.
BRCA1 and BRCA2 genes normally help regulate cell growth; when mutated, they lose that control, allowing abnormal cells to grow unchecked and significantly increasing the risk of cancer.
“Asking questions about what might be going on with your aunts, your uncles, your cousins, your grandparents … that’s going to make it a much easier process for your genetic counselor and your physician,” says Rachel Webster, a genetic counselor at MD Anderson Cancer Center.
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Guidelines vary: the National Comprehensive Cancer Network (NCCN) recommends testing for patients with specific risk factors such as early-onset breast cancer, strong family history, or Ashkenazi Jewish ancestry, while the American Society of Breast Surgeons recommends offering genetic testing to all patients diagnosed with breast cancer.
Tohn explained that her father discovered lumps under his arm last year, which testing revealed to be metastatic cancer. Further evaluation confirmed he was BRCA1‑positive, and he was ultimately diagnosed with male breast cancer.
Although rare, male breast cancer can be just as serious as female breast cancer. Experts emphasize that men should be aware of changes in their chest, including lumps, swelling, or discomfort, even though they are not routinely screened.
Armed with her genetic results and her father’s diagnosis, Tohn chose to undergo a prophylactic mastectomy (also called a preventive mastectomy) to dramatically reduce her own risk.
“Risk‑reducing mastectomies are an operation where we take women at very high risk for getting breast cancer—genetic mutation carriers, who are the ones at the highest risk,” explains Dr. Elisa Port, Chief of Breast Surgery at Mount Sinai Health System. “There’s unfortunately only one way to actually prevent breast cancer.”
Expert Resources to Reduce Cancer Risk
What to Consider When Weighing Preventive Mastectomy?
“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. Port 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 preventive 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
After a mastectomy, many women undergo breast reconstruction. Dr. Andrea Pusic, Chief of Plastic and Reconstructive Surgery at Brigham and Women’s Hospital, affirms the deeper significance of reconstruction: “Breast reconstruction is a restoration of a woman’s form and her sense of self.”
“Breast reconstruction is a restoration of a woman’s form and her sense of self. A lot of breast reconstruction is trying to erase the trauma of the mastectomy surgery, putting cancer behind a patient, saying this is in the rearview mirror, and putting her back on track,” Dr. Pusic told SurvivorNet.
WATCH: Breaking Down Breast Reconstruction Options
Plastic surgeons can reconstruct your breasts with implants or with your own tissue taken from some other place on your body, such as your back, your abdomen, or your inner thigh. Reconstruction that uses your own tissue is called a flap procedure. A flap can produce breasts that look and feel more natural than implants.
Like natural breasts, they can also change as your body changes. For example, they can get bigger or smaller as your weight changes. However, not all women are eligible for this surgery, such as those who smoke, have poorly controlled diabetes, circulation problems, or connective tissue disorders. Luckily, there’s another option.
Breast implant surgery is a significantly more straightforward process than a flap procedure; therefore, the recovery process is much quicker. However, implants won’t look and feel as much like natural breasts. As you age or gain or lose weight, the implants will stay the same, which could make them look less natural over time.
Implants can sometimes leak or burst. In this case, you would have to have them replaced. When choosing implants, women will then need to decide whether they want saline or silicone ones.
The main difference between the two is that saline is a sterile saltwater-filled implant and typically requires less monitoring since it’ll be pronounced if it starts leaking. While silicone implants usually feel better and look more realistic, they require more surveillance during an MRI. Additionally, if the silicone leaks, it doesn’t jeopardize your health, but it will need to be replaced immediately.
WATCH: Regaining your sense of self after reconstruction.
Reconstruct Now or Later?
Immediate reconstruction can produce better-looking results than delayed reconstruction, resulting in fewer surgeries overall. However, it may require a longer initial hospitalization and recovery time. This long surgery may also have a higher risk of complications, such as infections, than two separate surgeries.
It may be worth noting that “Delayed reconstruction has fewer complications than immediate reconstruction,” Dr. Terry Myckatyn, a plastic surgeon specializing in breast reconstruction, tells SurvivorNet.
New Research Finds that BRCA1/2 Variants Bring Cancer Risks for More Cancer Types
According to a new study published in ESMO Open, people with pathogenic BRCA1/2 variants face increased risks of thyroid, bladder, skin, and head and neck cancers, in addition to the well‑known breast and ovarian risks.
The study followed 3,489 cancer patients and found:
- BRCA1 carriers had a 10% cumulative risk of thyroid cancer.
- BRCA2 carriers had a 9% cumulative risk of melanoma 8.3% risk of head and neck cancer.
- Bladder cancer risk was also elevated — 12.8% in women and 5.6% in men.
- Risks of pancreatic and prostate cancer were also higher for carriers of the BRCA gene mutation.
WATCH: How do PARP Inhibitors Treat Ovarian Cancer?
Researchers emphasized the need for expanded personalized medicine approaches, including broader surveillance and the use of PARP inhibitors, which are designed to block DNA repair in cancer cells and have shown strong results in patients with BRCA mutations.
“You think about DNA being a double helix, which we all learned about in basic science,” says Dr. Rebecca Arend, Associate Scientist at the University of Alabama, Birmingham.
“If you have a single-strand break, a PARP enzyme is needed to repair that single-strand break. If you have a PARP inhibitor, then you can’t repair that single-strand break. If you have a single-strand break that’s not repaired, that actually leads to a double-strand break.”
Better Understanding of Tohn’s Father’s Breast Cancer
Like women, men have breast tissue and can develop breast cancer. Breast cancer starts when cells in the breast start growing out of control, typically forming a tumor that’s felt as a lump.
WATCH: Men Get Breast Cancer Too
A man’s risk of developing breast cancer may be higher if there’s a history of breast cancer in the family. Typically, male breast cancer manifests as lumps in the chest area. Factors like a patient’s race can impact the prognosis. Five types of standard treatment are used to treat breast cancer in men:
- Surgery for breast cancer in men mirrors the procedure in women. A modified radical mastectomy removes the whole breast with cancer. The result may involve removing the nipple, according to the National Cancer Institute.
- Chemotherapy involves cancer-killing drugs to prevent the cancer cells from growing. Chemo drugs are usually taken orally or intravenously.
- Hormone therapy involves removing hormones or blocking their ability to help cancer cells grow.
- In radiation therapy, high-energy beams such as X-rays are aimed at cancer cells to kill them.
- Targeted therapy treatment uses drugs designed to target specific cancer cells.
WATCH: Marc Futterweit shares his breast cancer journey.
When Marc Futterweit was told to get a mammogram by his doctor, like Roundtree, he, too, was in disbelief.
“I said, What do you mean by a mammogram?’ I don’t have breasts,” Futterweit recalled saying.
However, a second opinion from another physician confirmed Futterweit had breast cancer.
“When I was first diagnosed, I didn’t tell my wife. I thought I was holding it together,” Futterweit said.
When his family learned he was battling breast cancer, they supported him. Having a support group filled with loved ones is an important part of a cancer patient’s journey toward survivorship, according to experts SurvivorNet has spoken to.
He realized that with their support, having male breast cancer is nothing to be ashamed of.
“Men are basically standing in the shadows, they’re ashamed or embarrassed,” Futterweit says.
“Just remember, it’s nothing that you have done to cause you to get breast cancer. It’s nothing to be embarrassed about. It’s not a woman’s disease,” he continued.
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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