Knowledge as Power: Members of the UP community tackle hereditary breast cancer with optimism, action

By Clare Duffy | December 3, 2015 5:40am

Hannah-feature-image

Hannah Hoeflich holds a photo of her grandmother, Adele, on her wedding day. While Hoeflich never met her grandmother, Adele did have a significant impact on her life. 

by Thomas Dempsey / The Beacon

Adele Hoeflich was born in 1931. She was married and had three children. But she would never know her granddaughter, Hannah Hoeflich. Adele died of breast cancer at the age of 27, many years before Hannah was born. And while Adele and Hannah would never meet, photos aren't the only physical evidence Hannah has of her grandmother  Adele may have saved her life.

Cancer was nothing new to Hannah Hoeflich.

As a child, she had watched her mother fight breast cancer. Her grandmother died of breast cancer at the age of 27.

“There was kind of this family legacy of women getting breast cancer really young, children growing up without their moms,” Hoeflich said.

At the age of 27, Hoeflich took action to end to that legacy.

“I turned 27 and I went to my doctor and I said, ‘I’m 27. My grandmother got breast cancer at that age, should we be doing something?’” Hoeflich said. “And the doctor’s face just dropped.”

Hoeflich, a psychologist resident at UP’s Health Center, found out she has the BRCA-1 genetic mutation, resulting in an 87 percent lifetime risk of breast cancer and a 44 percent risk of ovarian cancer.

But Hoeflich became what she calls a cancer “previvor.” Just nine months later, she had breast removal surgery, reducing her risk to what one doctor estimated to be around three percent.

Now she shares her story with the hope of spreading knowledge and awareness about options for breast cancer screening and prevention.

“It didn’t really feel real to me, I think partly because I never met my grandmother. She passed away and was kind of like this distant person I never met,” Hoeflich said. “I was totally shocked when they told me that I have the BRCA-1 genetic mutation.”

BRCA-1 and BRCA-2 are hereditary genetic mutations that increase a person’s lifetime risk of breast cancer to around 60 percent. They affect between one in 400 and one in 800 women in the U.S., according to the Susan G. Komen Foundation.

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Hoeflich’s primary care doctor sent her to a geneticist who conducted a survey of her family history and completed a saliva test.

She described the moment of shock when she discovered that of the 18 women in her family’s recent past, 16 had died of breast or ovarian cancer.

“I actually had a moment of shock and horror,” Hoeflich said.

That moment continued when she tested positive for BRCA-1 — and she was assigned an oncologist.

“That was a big deal, I think, emotionally,” Hoeflich said. “I thought, ‘I don’t have cancer, how do I wrap my head around this?’”

BRCA mutations came into the public eye when Angelina Jolie publicly announced in a May 2013 op-ed in the New York Times that she had undergone a double mastectomy after discovering that she, too, had the BRCA-1 mutation. Like Hoeflich, Jolie was given an 87 percent risk of developing breast cancer during her lifetime.

At the age of 28, Hoeflich had a preventative double mastectomy. She said she plans to have her ovaries removed in the future, too.

“I realized that I am born in this time in history when I have choice. There’s so much knowledge,” Hoeflich said. “I feel like, in some ways, it was this gift I’ve been given. My relatives didn’t have this choice.”

Dr. Jone Sampson, head of the clinical cancer genetics program through the Knight Cancer Center at Oregon Health Sciences University, said that an important first step for anyone concerned about possible hereditary risk for breast cancer is to talk with a geneticist.

BRCA mutations are just two of a variety of genetic factors that can increase risk for breast cancer and other cancers including ovarian, prostate and pancreatic cancer. Increased knowledge and testing for these cancers has created greater opportunities for screening and prevention for those with strong family histories of cancer.

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Hoeflich’s grandmother and other relatives belong to the nearly 10 percent of all cancer cases that are truly hereditary.

Sampson said there are a number of high- and moderate-risk genes in which a mutation can be found that, in combination with family history, can elevate a woman’s risk for breast cancer above the 12 percent general population risk.

BRCA-1 and BRCA-2 are considered mutations in high-risk genes. According to Sampson, generally any risk over 20 percent qualifies for increased screening.

“We take a detailed three-generation family history and determine whether the person is eligible for testing. We talk about what the implications (of a positive result) would be ... because you don’t want to test somebody without telling them, ‘Well, this is what it’s going to mean,” Sampson said. “I do think it’s important to talk to somebody who can give you that information up front.”

As with Hoeflich, Sampson said her office calls patients in to discuss positive results. Double mastectomies and ovary removal are the most common preventative methods for people with high-risk breast cancer genes, alongside more intensive and frequent screenings.

“When you get genetic testing, they give you a ton of options, but they seem like the worst options ever,” Hoeflich said. “You’re like, ‘Well, I don’t really want to live with my risk, but I don’t really want to have a mastectomy, but I don’t really want to have my ovaries removed.’”

Hoeflich found community and support in several organizations for women with BRCA mutations and cancer survivors that facilitated mentorship programs and retreats. Sampson said she regularly refers patients to such groups for tools to explain genetic mutations to family members, updates on research and other resources.

“I was kind of in shock for a while and trying to wrap my head around this ... but I ended up connecting with a lot of women who had this mutation and had gone through surgeries and that kind of thing, and they helped me think about it differently,” Hoeflich said. “One of the them said to me, ‘This is the closest thing we have to a cure, it’s barbaric and whatever, but amazing that we are empowered to do something about this.’”

Hoeflich said her husband, too, was relieved when she decided to have the mastectomy.

Sampson explained that other benefits to speaking with a geneticist include receiving a “family letter” that explains the mutation and testing process to family members and getting a greater understanding of insurance laws. She said that there are laws to protect patients against discrimination from health insurance companies based on the genetic testing results, but that affected patients may encounter problems with life and long-term disability insurance companies.

“We always tell young people that they should get their life insurance and long-term disability insurance in place before they get genetic testing if they really want to safeguard against that,” Sampson said.

The recommended age to begin surveillance for breast cancer is 25, or 10 years younger than the youngest person in the family who died of breast cancer.

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Facing Our Risk of Cancer Empowered, a national organization for awareness and prevention of hereditary cancers, reports that a common challenge for women with the BRCA-1 or BRCA-2 mutation is knowing when and how to talk to their children and other family members about it.

Sampson said she recommends that affected women begin talking with their children around age 12, when kids generally start learning about genetics in school.

But junior Emma Guintini says she’s always had an awareness of her family’s history of cancer.

Guintini’s grandmother and two of her grandmother’s three sisters died of breast cancer at a young age. Neither her mother nor her three aunts have breast cancer. But still, Guintini explained she and her sister know that they might be at a greater risk for it.

“No one really talked about having breast cancer when my grandma had it because she had it in the ’90s ... she hid it from her family,” Guintini said. “Now everyone (in the family) talks about their mammograms and makes sure that everyone gets them because it’s not worth going through what she went through.”

There is a 50 percent chance that the BRCA genes will pass from parent to child. So while her mother hasn’t been tested, if Guintini’s grandmother did have the mutation, there’s a 25 percent chance Guintini and her sister are affected.

Guintini began seriously considering preventative action when she started college three years ago. She plans to get tested for BRCA-1 and BRCA-2 at 25, with the possibility of taking more drastic measures down the road if she discovers she does have the mutation.

“There’s really no reason not to, especially because I have such a big family history of it and it’s something that can be almost completely prevented,” Guintini said. “Knowing that I won’t have to go through what (my grandmother) went through, especially because there are so many things you can do now... If I do have the gene, at least then I can fix it.”

And Guintini said she’s grateful that her family’s predisposition to cancer was an open subject growing up; the simple awareness of her potential risk bringing her peace of mind.

“No one wants to talk about cancer because cancer is the big ‘C-word’ that no one wants to bring up with their family,” Guintini said. “Breast cancer is not something to be scared of, especially now.”

Hoeflich echoed this sentiment, saying that approaching her condition from a place of empowerment allowed her to come out not only with a positive outlook, but also knowing that she’d done something meaningful for future generations of women in her family.

“This is a challenge, but it’s also a gift and you find a sense of empowerment and choice in this,” Hoeflich said. “I’m the same person, I just feel more confident. I feel safer knowing that my risk has been reduced so much and I have choices.”

Contact news and managing editor Clare Duffy at duffy17@up.edu or on Twitter @claresduffy.
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