Mother and daughter, both with hereditary cancer risk, share how they made different choices with guidance from MUSC Hollings Cancer Center

When Debbie Herman says that cancer runs in her family, she isn’t exaggerating.

Her mother was one of nine siblings, seven of whom had cancer. Herman’s mother had breast cancer. An aunt had ovarian cancer. A couple of aunts had colon cancer. The uncles all had prostate cancer, and some cousins had breast cancer.

So it is perhaps not too surprising to learn that the BRCA2 gene mutation runs in the family.

Herman and her sister initially put off genetic testing when their mother was diagnosed with breast cancer in 2001, thankfully at an early stage.

“Her physicians suggested that we get tested. We elected not to, which was a mistake,” Herman said.

After her sister was diagnosed with triple negative breast cancer in 2016, Herman got tested. Both she and her daughter, Emily Huggins, M.D., learned they have the BRCA2 gene mutation.

Mother and daughter chose different paths with this information, but Herman and Huggins say that they want to encourage others to get tested so that they, too, can make informed choices about their own health.

What is a BRCA mutation?

BRCA1 and BRCA2 refer to BReast CAncer gene 1 and BReast CAncer gene 2. Mutations in these genes were first linked to breast cancer in 1990, but scientists have since learned that mutations in these genes can also lead to ovarian cancer in women, prostate cancer in men and pancreatic cancer and melanoma in both sexes. Possible connections to other cancers are still being studied.

 

“BRCA1 and BRCA2 are both genes that help protect the genome, the set of genes that determine our physical makeup,” explained Kevin Hughes, M.D., director of the Hereditary Cancer Clinic at MUSC Hollings Cancer Center.

There are two types of genetic mutations – those that are inherited from parents and those that develop over time, either because of exposure to toxins or because of mistakes during the cell replication process. When working properly, BRCA1 and BRCA2 help to “clean up” these copying mistakes.

All cells have two copies of each gene – one from the mother and one from the father – but if someone has an inherited BRCA1 or BRCA2 mutation, they’re starting out with only one working half of the gene pair that cleans up mistakes during cell replication. If something should happen to the good copy in any given cell, and a mistake happens when that cell copies itself, “there’s nothing to clean it up,” Hughes said.

That new mistake, or mutation, then continues to get copied and can lead to cancer.

The National Cancer Institute reports that more than 60% of women with a BRCA1 or BRCA2 mutation will develop breast cancer, compared with 13% of women in the general population.

Making decisions after BRCA testing

With that information in mind, women with a BRCA mutation generally have two choices: a prophylactic mastectomy that removes both breasts, which reduces the risk of breast cancer by 95%, or more intensive screening, with the expectation of catching any cancer at an early stage. Both options lead to a similar full-life expectancy, Hughes said.

 

“I chose to wait to have prophylactic surgery, which was not a good idea. I was taking care of my mother, who was elderly with dementia. She lived with my husband and me for six years, and after she passed, I continued to postpone it,” Herman said.

But postponing surgery, as long as the woman is getting appropriate screening, isn’t a bad choice, Hughes said.

“There is no wrong decision,” he said. Prophylactic mastectomy or increased screening, which usually means alternating mammograms and MRI scans every six months, are equally valid choices, he said. “It is perfectly reasonable to do one or the other."

And the screening did catch Herman’s breast cancer. In 2024, an MRI picked up a small cancer. At that point, she had the double mastectomy, but because the cancer was at an early stage, she didn’t need radiation or chemotherapy.

The timing, though, was a doozy.

Herman’s surgery in September 2024 came hard on the heels of Huggins’ prophylactic mastectomy surgery in July 2024, which Herman helped to nurse her through.

Huggins had learned she had the BRCA2 mutation shortly after her mother did. She heard that Andrea Abbott, M.D., director of the Comprehensive Breast Program at Hollings, had a high-risk breast clinic that followed women with increased risk of breast cancer, and, for several years, both mother and daughter would travel to Charleston every six months for their screenings.

 

Huggins leaned toward the prophylactic surgery option early on. Her aunt, Herman’s sister, died 18 grueling months after her diagnosis in 2016. In addition, Huggins is a hospitalist at MUSC Health Kershaw Medical Center, meaning she cares for people during their time in the hospital.

“I see lots of different conditions, but occasionally we do see terminal cancer diagnoses,” she said. “And I specifically remember taking care of young women who had widely metastatic breast cancer or ovarian cancer – women who had children younger than my own.

“That really resonates. That wasn't the decision-maker but definitely impacted it. Why would I not do something when I can, when I have two young children who I would want to be there for? Why would I wait? To me, that just seems like a gamble. And I know it doesn't reduce my risk of any cancer in its entirety, but it significantly diminishes my risk of breast cancer,” Huggins said.

Abbott said that each woman who comes to her clinic comes with her own perspectives about the route she’d like to take.

"Why would I not do something when I can, when I have two young children who I would want to be there for? Why would I wait? To me, that just seems like a gamble. And I know it doesn't reduce my risk of any cancer in its entirety, but it significantly diminishes my risk of breast cancer.”

Emily Huggins, M.D.

“Everybody has a different risk tolerance,” she said. “Some people are not interested in having any risk, so they want to have surgery right away. I have some women who are in their 20s whose mothers died of breast cancer. They have the genetic mutation, and they want surgery now.

“And then I have other patients who are in their 30s or 40s or 60s. Maybe they're just finding out for the first time that they have the BRCA mutation. But they feel good right now. Maybe nobody in their direct family has cancer. So for them, they want to just continue with screening,” she said.

The important thing is to get the testing so that people know what they’re dealing with, Abbott said.

“I think some people are afraid of getting genetic testing because then they have this diagnosis, and they feel compelled to do something with this information,” she said. “People are afraid that, ‘Well, once I have this, then doctors are going to come at me, and it's just going to be treatment after treatment after treatment. I'd rather just not know, and if something shows up, then I'll deal with it.'

“I think some people are afraid of getting genetic testing because then they have this diagnosis, and they feel compelled to do something with this information.

"But just because you have this information doesn't mean we're going to force you to do anything. It’s just empowering. No one is going to make you do anything until you’re ready."

Andrea Abbott, M.D. 

“But just because you have this information doesn't mean we're going to force you to do anything,” Abbott emphasized. “It’s just empowering. No one is going to make you do anything until you’re ready.”

Huggins waited several years before scheduling the prophylactic mastectomy, engaging in conversations with Abbott about the best timing from both a medical perspective and a life perspective.

“I'm so grateful for her. She's very compassionate. She's very thorough,” Huggins said.

There’s a lot to balance, Abbott noted. Women in their 30s are often juggling work and young families. As doctors assess risk, they’re looking at more than BRCA status. They’re also considering the ages when family members were diagnosed with cancer and how many close family members have been diagnosed with cancer. A woman with family members who had cancer in their 50s might have more time to make a decision than a woman whose family members had cancer in their 30s. Those estimates, though, are not guarantees, which is why ongoing conversation with a doctor with expertise in hereditary cancer is important.

Breast surgery choices

Deciding on surgery isn’t the end of the choices a woman must make. There’s also the question of the type of reconstruction she would like. Here, too, Herman and Huggins made different choices.

Huggins opted for a natural reconstruction, which uses tissue from elsewhere in the body to rebuild the breasts.

Herman opted for a flat closure. She said that getting input from the entire medical team helped as she was preparing for treatment.

“Dr. Abbott gathered the whole team together. When I went down (to Charleston), I had an appointment with her, the oncologist, the plastic surgeon and a radiation oncologist on the same day. It was amazing,” she said. “After thinking through it and seeing all those providers, I decided I didn't want to go through the more complicated surgery that Emily had, and I didn't want implants.”

“I joined some Facebook groups with women that went flat and other women that did reconstruction. And after all that, I decided, ‘I'm OK with being flat,’” she said.

Ovarian and pancreatic cancer risk

Breast cancer is not the only risk with a BRCA mutation. Herman and Huggins are both at higher risk for ovarian cancer and pancreatic cancer.

Unfortunately, there is no screening test for ovarian cancer, which means the only preventive action that women can take is to have their ovaries and fallopian tubes removed.

Herman had had her ovaries, fallopian tubes and cervix removed years before she was diagnosed with breast cancer for other health reasons.

 

For younger women, though, like Huggins, the conversations are nuanced. The National Cancer Institute says that as many as 58% of women with a BRCA1 mutation and up to 29% of women with a BRCA2 mutation will develop ovarian cancer, compared with 1.1% of women in the general population. That’s a strong argument in favor of removing the ovaries. But doing so means that a woman will immediately enter menopause.

“Ovarian cancer is a terrible disease with a not-great prognosis. And, so, you need to get the ovaries out. But, while removing the breast can be psychologically unpleasant, removing the ovaries is physically unpleasant,” Hughes said. “We try to avoid the surgery until as late as possible.”

That means, first, waiting until the woman has decided she won’t have any or any more children. Then, doctors look to an age range when the risk of ovarian cancer starts to accelerate. For women with a BRCA1 mutation, that’s between the ages of 35 and 40. For a BRCA2 mutation, that’s between the ages of 40 and 45.

Hughes said that women who haven’t had breast cancer can get hormone replacement therapy for five years without increasing their breast cancer risk to help with the symptoms of early menopause.

Screening for pancreatic cancer in high-risk patients

 

Pancreatic cancer is another cancer of concern for people with BRCA mutations. Pancreatic cancer screening is relatively new, and there’s still research underway about how effective it is, so national organizations offer different guidelines for screening.

The National Comprehensive Cancer Network (NCCN) updated its recommendation in 2024 to state that people with a BRCA2 mutation should get yearly screening. Before this update, it had recommended screening only for people with both the mutation and a family history of pancreatic cancer.

For people with a BRCA1 mutation, which has a lower risk of pancreatic cancer, the recommendation remains to screen only for people with both the mutation and a family history of pancreatic cancer. But for people with the BRCA2 mutation, research showed that there’s enough of a survival benefit among people whose cancer was found through screening, instead of waiting for symptoms, to merit screening.

Still, more research needs to happen to develop better screening methods because the current screening is expensive, requires special equipment and highly trained personnel and, therefore, isn’t available everywhere.

Annual pancreatic cancer screening starts at age 50 or 10 years before the age that a family member was diagnosed with pancreatic cancer, so Herman is beginning her screening now.

“They’re going to do an MRI first, and then the next year, the endoscopy,” Herman said. “They’ll do an ultrasound of the pancreas through the stomach, which is really unbelievable how that transpires. I’ll alternate those.”

Living with BRCA2

Knowledge about cancer and cancer risk is constantly evolving as research adds to our scientific understanding. With Huggins and Herman both regularly seeing their providers at the Hereditary Cancer Clinic, they know that, as guidelines are updated in response to research, they’ll be getting the latest evidence-based screenings and care.

Genetic testing is also something that Huggins will talk about with her children as they get closer to adulthood.

“We'll start having those conversations closer to that date,” she said. “And they'll make an informed decision. But they'll remember what I went through, and it was so that I had a choice.”

 

Herman said she and Huggins wanted to tell their story to inspire others to get genetic testing.

"I would highly encourage people, if there's breast cancer in your family, to be tested."

Debbie Herman

“I would highly encourage people, if there's breast cancer in your family, to be tested. A reason we wanted to do this is to let people know that it is critical if you have a family history,” she said.

Shortly before Christmas, Huggins was still regaining strength and range of motion after a revision surgery in November, but she was happy to have the surgeries behind her.

“I feel like a weight has been lifted. There was always in the back of my mind that anxiety of ‘When am I going to commit to do this? Will it be too late?’” she said. “So all of this is minimal compared to the emotional knowledge that I've made a positive impact on my health and my family's well-being.”

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