To kick off Hereditary Breast and Ovarian Cancer week and Breast Cancer Awareness Month, BCRF hosted an empowering conversation with experts and patients focused on all things breast cancer risk and genetics.
Joining BCRF’s Chief Scientific Officer Dr. Dorraya El-Ashry and Sadia Zapp, who was diagnosed with breast cancer at 36, were Allyn Rose, founder of The Previvor, and BCRF investigator and Scientific Advisory Board member Dr. Susan Domchek, who serves as executive director of the Basser Center for BRCA at the University of Pennsylvania Perelman School of Medicine.
Below, we recap five of the top takeaways from their conversation. Watch the full video above and sign up for our email list to learn about future events.
Dr. Domchek kicked off this webinar by giving an update on some current guidelines for who should be screened. While there are other criteria—and the best person to discuss this with is your doctor or a genetic counselor—she highlighted these key points for who should be considered for genetic testing:
If you were diagnosed before the age of 50 or if you have family members who were diagnosed before 50, it’s especially important that you speak to your doctor about being tested, Dr. Domchek emphasized. If you fall into any of the above categories or think you might, talk to your doctor or find a genetic counselor near you. The National Society of Genetic Counselors’ Find a Genetic Counselor website is a great place to start, as is a large comprehensive cancer center, if you live near one.
Dr. Domchek stressed that while these guidelines have changed over time, that’s because research has increased our understanding of hereditary breast cancer and genetic mutations—and has helped refine recommendations.
For women like Sadia and Allyn, who both tested negative for known genetic mutations that increase breast cancer risk, they still have unanswered questions.
“It’s important to emphasize the fact that genetic testing doesn’t tell us everything about who’s at risk,” Dr. Domchek said. “Family history is always important, but so are other things. For so many women who are diagnosed, especially at early ages, we don’t find any known genetic risk.”
That’s why more research focused on risk and risk is so important.
“Work is underway to try to find that missing genetic risk and to also understand additional risk factors, particularly for women who develop breast cancer before their first mammogram,” Dr. Domchek said.
Our knowledge will only continue to grow to the point where, thanks to research, women will be offered much more personalized risk assessment, Dr. El-Ashry said. More personalized risk assessment, coupled with personalized risk-reduction strategies like potential vaccines and other treatments, are under study as part of BCRF’s Precision Prevention Initiative.
“The only way we're going to make a dent in slowing and reducing the breast cancer incidence is with this concerted and strategic effort to advance prevention,” she said.
BRCA1 and BRCA2 were first discovered by BCRF investigators Dr. Mary-Claire King and Alan Ashworth, respectively, in the 1990s. We now know that having mutations in these genes—everyone has BRCA1 and BRCA2 genes—can significantly increase a person’s lifetime risk of breast cancer. The average woman’s lifetime risk of breast cancer is around 13 percent; someone with a mutation in these genes has a lifetime risk of up to 70 percent.
But, Dr. Domchek pointed out, there are other genetic mutations to be aware of. PALB2 has a risk closer to BRCA1/2 (up to 55 percent), while other mutations like CHEK2 and ATM do increase risk but not as significantly (around 25 percent lifetime risk). Still others like RAD51C and BARD don’t have as high of an increase in lifetime risk, but increase the odds of a triple-negative breast cancer diagnosis.
The point, Dr. Domchek said, is we know more than ever before. She also stressed that if you’ve had genetic testing and you experience a change in your family history—like a relative’s new cancer diagnosis—bring this up to whoever ordered your test. If you were tested prior to 2015 and anything has changed in your family history, it’s especially a good idea to alert your doctor (prior to that year, genetic tests weren’t typically widespread panels of several genetic mutations, so you may need further testing).
Many women also learn during genetic testing that they have variants of unknown significance. These are mutations that we don’t yet know how they impact risk, if at all, though time and more research will tell.
“90 percent of those are going to be nothing,” Dr. Domchek said. “But if you see those on your results, it’s a good idea to check in about once a year with your doctor to make sure nothing has changed.”
In addition to funding research on genetic mutations and variants of unknown significance, Dr. El-Ashry said BCRF is supporting research into other DNA variations like single nucleotide polymorphisms (SNPs).
“These are short, little changes in genes. Any one of them doesn't really increase your risk of breast cancer that much, but a lot of them in the right combination of genes could start to elevate risk,” she said. “A lot of research is trying to get at these polygenic risk scores that look at large numbers of these genes and the SNPs in them to create a risk score. We’re moving forward to make risk assessment more personalized.”
Everyone, regardless of their family history or genetic mutations, can make changes to reduce their risk of breast cancer and improve their overall health: exercise, eat a plant-forward diet that’s low in processed foods, reduce alcohol consumption, try to reduce chronic stress. It’s important to note that making changes to these modifiable risk factors can sometimes only go so far.
“You can do absolutely every single thing right—and get breast cancer,” Dr. Domchek said.
She also noted that for people who carry mutations that increase breast cancer risk like BRCA1 and BRCA2, these risk-reducing strategies don’t significantly counter that risk. That doesn’t mean you shouldn’t make changes—they will help your overall health—but that you need to talk to your doctor about other options and not rely on these strategies alone to lower your risk.
During the webinar, Allyn powerfully shared how and why she opted to have a prophylactic double mastectomy. Her mother had been diagnosed with stage 3 breast cancer at the age of 27 and experienced a recurrence 20 years later, ultimately passing away from the disease at the age of 50. Allyn was 16 at the time. Many other women in Allyn’s life were diagnosed and lost their lives to breast cancer, so, in her 20s, Allyn began to explore her options. Like many women, although she has a strong family history of the disease, genetic testing didn’t reveal any known mutations. After weighing her options, Allyn opted to undergo surgery to reduce her risk.
“I didn't want my future husband and my future children to know what it was like to live without their wife or their mother,” she said. “It has been one of the most challenging but most rewarding experiences of my life to do that.”
Her experience inspired her to start The Previvor, a resource for patients to find educational, empowering information about genetic risk and treatments options, resources for self-advocacy, and stories from real women.
“When I was first navigating this, I knew I was at high risk, but there was no one comprehensive place I could go to learn about my options,” Allyn said. “What I wanted to do with The Previvor is put everything together in an easily digestible, comprehensive place so women could feel like, ‘OK, maybe I have this gene mutation, but I can now walk through the process, learn about what the options are, and feel empowered in my doctor's office.’ We see over and over that women are happier with their outcomes—even if their outcomes are worse— if they feel empowered in the decision-making process.”
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