Living with Two Mutations: A Survivor and Previvor Reflect on Hereditary Cancer Risk

Two different paths lead to a shared commitment to awareness, screening, prevention and survivorship.

by Debbie Denardi and Sara Kavanaugh

Most people who learn they carry a hereditary cancer mutation spend time adjusting to the idea of living with increased risk. For us, the adjustment involved learning that each of us carries two genetic mutations.

We came to that knowledge in very different ways. Debbie first encountered genetics after being diagnosed with breast cancer. Sara learned about her mutations before developing cancer, placing her in the category of a previvor, someone living with an inherited cancer risk but no diagnosis.

Although our journeys began at different points, we now navigate many of the same questions about screening, prevention and how to talk about hereditary cancer with our families. Our experiences highlight something important: some people discover genetics after cancer, while others learn about it before, but both paths ultimately lead to the same goal of understanding risk and taking action to protect health.

Different paths to genetic discovery

Debbie’s path to understanding her inherited cancer risk began with a breast cancer diagnosis. In 2010, she was diagnosed with triple-negative breast cancer at age 48. Genetic testing following her diagnosis revealed a BRCA1 mutation.

After genetic testing, Debbie found the PRECEDE study on FORCE’s website. This study hopes to develop a biomarker to diagnose pancreatic cancer early. The head of the study asked Debbie about her father’s side of the family. Her grandfather died of colon cancer. Her uncle died of metastatic prostate cancer, and her father was diagnosed with early-stage prostate cancer. Upon hearing her family history, the researcher recommended retesting with a full panel.

The full panel results confirmed Debbie’s BRCA1 mutation and also found a PMS2 mutation in one of the Lynch syndrome genes. Debbie had already experienced the impact of cancer in her family. Her mother died from breast cancer at age 44, making the genetic connection deeply personal.

Sara’s path unfolded differently. While being evaluated by a breast specialist because of dense breast tissue, she was encouraged to pursue genetic testing to better understand whether any inherited cancer risk might also be present. The testing revealed that she carried two mutations: an MSH6 mutation associated with Lynch syndrome and a CHEK2 mutation. At the time, she had not been diagnosed with cancer, but the results immediately shifted the way she approached her health, screening and long-term planning.

These two paths—cancer first versus genetics first—illustrate how people often arrive at genetic information in different ways, yet face many of the same questions, concerns and uncertainty once they have it.

Why screening matters

For both of us, one of the most immediate changes after learning about our genetic mutations was the role that screening would play in our lives.

Understanding hereditary cancer risk means recognizing that screening recommendations are not the same for everyone.

For individuals with Lynch syndrome, regular colonoscopies remain the gold standard for detecting polyps and preventing colon cancer. While stool-based screening tests are often used for people at average risk, individuals with hereditary cancer syndromes typically require colonoscopy-based surveillance because of their elevated risk. Lynch syndrome also carries an increased risk for other cancers, such as endometrial cancer, making the screening complex and costly.

Similarly, hereditary mutations that increase breast cancer risk, such as BRCA1 or CHEK2, often lead to enhanced breast screening. This may include earlier and more frequent imaging, such as mammograms and breast MRIs, to detect changes as early as possible. These mutations also have an increased risk of ovarian cancer, requiring other screenings.

For Debbie, screenings provide reassurance and an opportunity for early detection after her breast cancer experience. For Sara, learning about her mutations before cancer meant approaching prevention and surveillance proactively.

In both of our lives, screening has become more than a routine appointment. It is a tool for staying ahead of potential disease. These intense screenings entail cycles of anxiety and relief.

Advocacy as a way forward

For both of us, learning about hereditary cancer eventually led to advocacy.

Through our involvement with FORCE, we found not only information but a community working to improve the future for families facing hereditary cancer.

Debbie’s advocacy grew out of her experience as a cancer survivor. She volunteers with FORCE and participates in research advocacy, helping bring the patient perspective into conversations with researchers and clinicians.

Sara’s advocacy focuses on education and awareness. As a Patient Advocate Leader with FORCE and host of The Positive Gene Podcast, she works to help people better understand hereditary cancer and encourages conversations about genetic testing, screening and prevention.

For both of us, advocacy is deeply personal. Our hope is that sharing our experiences will help others feel less alone and better prepared to take proactive steps for their health. We know that information is power, and we encourage patients and families to know their genetic information.

Looking ahead

Our journeys began in different ways, one through a cancer diagnosis and the other through genetic testing. Living with two hereditary cancer mutations has brought each of us to the same place: a shared commitment to awareness, early detection and helping others understand their risks. We need to continue working with researchers to understand the impact of multiple mutations to help our families and our community.

Whether someone learns about their risk before or after cancer, understanding hereditary cancer can empower individuals and families to ask questions, pursue genetic counseling and follow screening plans that may detect problems earlier or prevent cancer altogether.

For us, living with two mutations has shaped how we approach our health, our families and our advocacy. If sharing our experiences encourages even one person to explore their family history, consider genetic counseling and testing or stay current with recommended screenings, those conversations are already making a difference.

FORCE support services can connect you with individuals who have multiple mutations so that you do not have to face this alone.

Debbie Denardi is a breast cancer survivor and research advocate living with a BRCA1 mutation and a Lynch syndrome mutation. After being diagnosed with triple-negative breast cancer in 2010, she became actively involved in patient advocacy and cancer research initiatives. In addition to volunteer and board roles with FORCE, Debbie volunteers with several organizations supporting individuals affected by hereditary cancer. She also works to increase awareness of genetic testing and screening.

Sara Kavanaugh is a hereditary cancer advocate, speaker and host of The Positive Gene Podcast. Living with Lynch syndrome and CHEK2 mutations, she shares educational resources and personal insights to help individuals and families navigate hereditary cancer risk. Sara is also a Patient Advocate Leader and Peer Navigator with FORCE. She also works to promote awareness, prevention and early detection.