September 12 2024
Article by Diane Rose an NRG Oncology Patient Advocate
Sixteen years ago, when I started my hereditary cancer journey, I vividly remember thinking that by the time my youngest child, my daughter, reached the age where she would need to consider genetic counseling and testing, there would be many advances in genetics, screening tools, and options for preventing breast and ovarian cancer. While many advances have been made, we are still, in many respects, at the same place for screening tools and prevention options as my daughter considers genetic testing while finishing her undergraduate studies
Living in a BRCA family
Growing up, I was unaware of any cancer in my family. Then in 1999, when I was in my 30s, my paternal aunt was diagnosed at age 53 with stage IV ovarian cancer. She was referred for genetic counseling and testing toward the end of her treatment and tested positive for a BRCA1 gene mutation. She was then diagnosed with breast cancer in 2006. Her daughter was diagnosed at age 28 with bilateral breast cancer, and not surprisingly, she tested positive for the same BRCA1 mutation. My immediate family acted quickly, having genetic counseling and testing: my father, and then my two brothers and I tested positive for the BRCA1 mutation. My sister, however, tested negative.
I was a 38-year-old-previvor—a survivor of a predisposition to cancer without a cancer diagnosis. Along with my genetic test results and recommendations for my health, my genetic counselor handed me a FORCE brochure and a business card from the local FORCE support group leader. This information led to my connection with FORCE and saved my life. It also educated, equipped, and empowered me to make informed decisions about my health and the health of my children and grandchildren.
People who learn that they have an inherited risk for cancer must navigate an overwhelming roadmap of information, including statistics about their cancer risk and analysis of their family history for specific cancers, not to mention multiple screening and risk-management guidelines, recommendations, and clinical trials.
FORCE helped me move forward with confidence
Knowing about my genetic mutation, I needed to equip myself to protect my health. I enrolled in a high-risk clinic and started increased screening every six months to monitor my breast and ovarian health. National guidelines recommended this increased screening, along with prophylactic surgeries to remove my breasts, ovaries, and fallopian tubes between ages 35-40. I felt good about making these decisions. Being a previvor, I was lucky to have these options; options that others just one generation before me didn’t have.
I connected with FORCE, the only national nonprofit organization dedicated to improving the lives of the millions of individuals and families facing breast, colorectal, endometrial, ovarian, pancreatic, and prostate cancers. Our community includes people with inherited gene mutations that raise the risk of cancers, including mutations in the ATM, BRCA, CHEK2, PTEN, and EPCAM, MLH1, MSH2, MSH6, PMS2 (Lynch syndrome genes), or other genes.We accomplish this through education, support, advocacy, and research efforts.
Facing previvor challenges
Turning 40 seemed to come quickly, and I started to feel like I was having screenings so I could find out if this time they would find cancer. I realized I wasn’t doing anything proactively. Watching my aunt and cousin go through their cancer surgeries, I realized the same surgeries would reduce my breast and ovarian cancer risk. That understanding compelled me to make the difficult decision to have a bilateral mastectomy (with breast implant reconstruction) and bilateral salpingo-oophorectomy. I was fortunate to have met so many people through FORCE who already had these surgeries; they helped me process the physical and emotional challenges I would endure.
One of these challenges is the management of surgically induced menopause. At age 40, I needed to find healthcare providers to help me manage the menopausal symptoms and side effects from my prophylactic surgeries, which can include:
Quality of life for previvors is extremely important. Without a comprehensive and straightforward plan, we must piece together decisions, often on our own. I don’t regret having prophylactic surgeries 16 years ago, but that doesn’t mean that my need for continued care and decision-making is behind me.
I was married and already had my family when I received my genetic test results, and I feel lucky to have been at that place in my life without having a cancer diagnosis. I didn’t have to worry about making even more difficult decisions. Many young people are not as lucky. They may be in college, dating, getting married, or wanting to start a family, while at the same time trying to make risk-management decisions. I’ve talked to young people in new relationships who must decide when to tell their partner about their inherited mutation and what that might mean for their relationship and family.
Previvors may also feel isolated if they can’t talk to their peers about recommended preventive screenings—biannual breast MRIs and mammograms, transvaginal ultrasounds, CA-125 blood tests, colonoscopies—and the myriad of health experts they need to see because their peers aren’t experiencing the same things at the same time. Previvors often don’t discuss the stress and anxiety they may feel in the days and weeks before each of these frequent check-ups.
Sharing information with family members
Sharing your inherited cancer risk with your blood relatives provides them with the opportunity to make informed decisions about their health. But this process may not always be easy. How do you begin to share this information? What do you do when a relative denies your request to share the information or decides not to seek genetic counseling or testing? This happened with one of my dad’s sisters. Unfortunately, she was later diagnosed with primary peritoneal cancer and passed away within two years. FORCE’s downloadable resource, “The Genes Between Us: Your Guide to Sharing Genetic Test Results with Relatives,” can help guide this process.
I felt early on the importance of sharing my cancer risk with my children, providing pieces of age-appropriate information that they could understand and handle. I didn’t hide anything from them and answered all of their questions. As I was a volunteer and then a staff member at FORCE, they were familiar with my work and the reasons behind my decisions. They helped with fundraisers, watched me on the news, and read articles about me and our family.
I think about my daughter and what decisions she may have to make in the coming years. But I also think about my two sons. One attended two FORCE conferences before deciding to have genetic counseling and testing; he has since tested positive. He’s married now, and he and his wife will have to decide if they want to go through Preimplantation Genetic Diagnosis (PGD) to prevent the mutation from being passed down to future generations. My other son hasn’t tested yet, but he and his wife have three daughters. I can’t help but be hopeful that my granddaughters will have so many more options by the time they need to think about genetic testing.
Fallopian tube clinical trial
NRG Oncology’s SOROCk [NRG-CC008] clinical trial is studying whether removing just the fallopian tubes of women with an inherited BRCA1 mutation can reduce the risk of ovarian cancer as effectively as removing both the ovaries and fallopian tubes. The main benefit of removing the fallopian tubes but preserving the ovaries is to prevent surgically induced menopause. Researchers believe that most ovarian cancers first begin in the fallopian tubes, suggesting that removing only the fallopian tubes may prevent ovarian cancer. This study will also examine various patient-reported quality-of-life outcomes. It took 10 years to bring this trial to the FORCE community. And that speaks to the timeline of many prevention studies. My daughter will be 30 years old when this study closes. She may be considering marriage and family plans, and she will have already started screening for breast and ovarian cancer. But my grandchildren have a brighter future.
Engage with research advocates
There are many people who are willing to participate in prevention and quality of life studies in addition to treatment studies. Research advocates are trained and ready to help researchers throughout the research continuum including helping to identify and prioritize research questions and proposals, help funding agencies choose research studies to support, help design approaches to answer questions that are important to patients, and review study proposals. NRG Oncology Patient Advocate Committee (PAC) and FORCE have trained research/patient advocates who come from diverse backgrounds and are eager to provide input.
About the Author
Diane Rose is an NRG patient advocate who joined the Patient Advocate Committee, Cancer Prevention and Control Committee, and the Breast Committee in 2019. Diane is also the VP of Research at FORCE, serving on the staff since 2014 to ensure the FORCE community has access to information about clinical trials that enroll people like them. Diane’s most recent FORCE project as co-investigator is for a cooperative agreement through the Center for Disease Control and Prevention (CDC), Expanding XRAYS ThRough Alliances (Project EXTRA). The major goal of this project is to improve patient digital health literacy and connect young breast cancer survivors, women living with metastatic breast cancer, caregivers, community health workers, and healthcare providers to relevant information, national guidelines, clinical trials, and supportive services.