Three years ago, Mary Margaret, a 31-year-old from Vermont, discovered she has a mutation in the BRCA gene that could potentially lead to cancer. “I’m not currently ill, and I might never be,” she reflects. “I’ve just been informed that I could face something in the future.”

This situation presents a unique challenge, as she grapples with the uncertainty of her health. “It felt like a loss, but I have nothing tangible to mourn,” she adds.

Margaret identifies as a previvor. While she understands she has a significant statistical likelihood of developing cancer, she has yet to experience it, and might never do so. “Being in this position is vastly different from dealing with an actual diagnosis,” she states.

BRCA gene mutations are hereditary, with parents having a 50% chance of passing them on. Many individuals become aware of their BRCA status following family cancer cases. Margaret, her sister, and her brother underwent testing after their mother was diagnosed with breast cancer. The National Cancer Institute indicates that a mutation in the BRCA1 gene offers a 72% risk of developing breast cancer and a 44% chance of ovarian cancer, while BRCA2 mutations correspond to a 69% risk for breast cancer and a 17% risk for ovarian cancer. Approximately one in 400 people carry a BRCA mutation.

Discussions surrounding BRCA mutations often focus on cancer, yet individuals like Margaret find themselves in a somewhat distinct category: they are aware of their potentially harmful gene but also recognize that they might never face cancer, leading to a lifetime of anxiety over a condition they may never develop.

For those with BRCA mutations, preventative surgery often becomes a pressing consideration. Medical professionals frequently recommend double mastectomies and oophorectomies to mitigate breast and ovarian cancer risks. “I’m not ready to commit to surgery just yet; I’m still enjoying my life,” Margaret jokes, noting her desire to expand her family. “Let’s take a moment to breathe!”

Although BRCA-related cancers can be more aggressive and occur at younger ages, Margaret’s youth allows her to delay immediate action. While 40% of breast cancers in women under 35 are hereditary, the average age for BRCA carriers to receive a diagnosis is between 40 and 50. Her BRCA status, however, serves as a persistent reminder: “With screenings and follow-ups, I have over ten appointments annually. It’s overwhelming. I constantly ponder how life would change if they discovered something.”

Nikki McCoy, a 39-year-old from Washington, has a tattoo representing her previvor journey: DNA strands formed by pink and teal ribbons, symbolizing breast and ovarian health, respectively. After learning of her BRCA status, she underwent a gynecological procedure just four months later. “I knew I had to act quickly because ovarian cancer screening is inadequate,” she shares.

Currently in recovery from a preventative mastectomy and reconstruction, McCoy notes, “I’m a bit sore and fatigued, but overall, I’m doing well,” adding that this recovery is less intense than her previous hysterectomy and the removal of her ovaries and fallopian tubes.

Though McCoy is well-informed, she emphasizes the need for self-advocacy in navigating her healthcare: “I fought to keep my cervix, as many doctors combine the uterus and cervix in discussions. That choice was crucial for me, as it provided a sense of control,” she explains. “It was essential to feel knowledgeable about my decisions.”

The decision-making process can be swift yet emotionally complex. Removing the ovaries leads to surgical menopause, a change McCoy is managing through hormone replacement therapy (HRT). “Navigating menopause was incredibly challenging,” she states, having had numerous discussions with her doctor regarding HRT. While some forms of HRT may be safe for BRCA carriers, others are linked to breast cancer risks, creating uncertainty in medical recommendations. Joy Larsen Haidle, a hereditary cancer expert at the National Society of Genetics Counselors (NSGC), stresses the importance of having proactive discussions with doctors about surgical menopause and symptom management. “It’s much harder to discuss these issues later on when you’re not feeling like yourself,” she notes. “It’s important to balance both quantity and quality of life.”

“I wrestled with this choice a lot. I thought, ‘I might never develop cancer. What if surgery leaves me less healthy than I currently am?’” McCoy reflects.

When faced with a high cancer risk, opting for the removal of non-essential organs may seem straightforward, especially for those who have completed their families. Yet, even individuals who are confident in their decisions acknowledge the gravity of the situation: “I treated the surgery as a significant life event,” McCoy recalls, explaining her travel to Texas for the procedure. “The journey allowed for introspection. My husband and I spent the day before my surgery at the San Antonio Botanical Garden, surrounded by an incredible variety of cacti. It was a moving experience.”

Surgery can also feel like a profound loss. For some women, losing their breasts can impact their self-image. “I struggled deeply with my decision,” states Lisa Kirsch, a 49-year-old from London, U.K., who tested positive for BRCA six years ago. “I thought, ‘What if I never get cancer? What if I come out of surgery worse off than I am now?’”

Kirsch eventually proceeded with surgery after witnessing a friend with BRCA battle cancer and ultimately succumb. However, the aftermath didn’t bring the relief she anticipated. Kirsch realized she couldn’t simply revert to her previous life — the experience reshaped her values: “I underwent these surgeries to ensure I’d be there for my son, yet I found myself absent due to work commitments,” she laments. “It led me to question, ‘What’s it all for?’ I wanted to be present for school pickups and performances.”

Similar to several others we interviewed, Kirsch pursued a new career following her BRCA diagnosis — she now operates a small events business. “I didn’t find this experience empowering, as some describe it; it was a challenging time,” she says. “However, I’ve transformed as a person. I wouldn’t change anything.”

The implications for children — both current and future — frequently arise in discussions about BRCA. “Women with younger children often feel increased pressure to maintain their health, as they bear the responsibility of being present for their kids,” Larsen Haidle observes. With BRCA mutation testing available for approximately 25 years, many individuals learn of their status at younger ages, some knowing a test awaits them when they turn 18. This reality can be overwhelming, particularly for those who envision parenthood. One option includes in vitro fertilization coupled with genetic screening to prevent passing on the mutation. Yet, a more immediate concern may be determining when to disclose BRCA status to a potential partner.

Receiving such information at a young age can provide time to process it. Nafisa Sayani-Bromley, a 32-year-old from Kent, U.K., tested positive at 23. “I wasn’t prepared to confront it,” she admits. “It was only as I approached my 30s that I realized the seriousness of my situation and felt compelled to take action.” When her boyfriend proposed while she was preparing for a mastectomy, she felt supported: “He was ready to navigate this with me.” With aspirations of having children, she has chosen to delay any gynecological surgeries for now.

Risk perception is deeply personal; what one individual finds acceptable, another may deem intolerable. When asked if individuals with BRCA2 mutations are more likely to choose surveillance over surgery compared to those with BRCA1 mutations, Larsen Haidle asserts that family experiences play a significant role. Witnessing relatives endure cancer often drives individuals toward more aggressive measures, while those with less exposure to such trauma may adopt a different mindset. However, overall rates of preventative surgeries among BRCA previvors have surged in recent years, as reported by researchers from Ohio State University. Approximately half of BRCA previvors opt for prophylactic oophorectomy and mastectomy, although numbers can vary significantly across different socioeconomic groups. For instance, Black women are less frequently referred for BRCA testing and are less likely to undergo preventative surgeries compared to their white and Hispanic counterparts.

Kelly Frantz, a 41-year-old from Pennsylvania, has been aware of her family’s BRCA history since her early 20s, as multiple relatives had been diagnosed with breast and ovarian cancer. However, she only pursued testing four years ago. “My health insurance didn’t cover the tests previously, and my OB-GYN believed there was no benefit in knowing,” Frantz explains. She finally tested after a new gynecologist encouraged her to pursue it — a shift in perspective regarding BRCA.

Frantz’s decision for surgery was influenced by her three children; she didn’t want them to witness her battling cancer. “I used to think, with so many family members succumbing to cancer, I’d likely face the same fate,” she recalls.

Yet, not every family member understood her drastic choice. Some questioned why she wouldn’t just wait until a cancer diagnosis to react. “I wanted my children to see that I was strong enough to proactively prevent something,” she states. When asked if she would have made the same decision without children, she replies, “I’m not sure.”

Many individuals report a sense of relief after preventative surgery. Frantz shares, “I feel a mix of emotions.” While she has done her best to stay healthy, the psychological weight is significant. “Post-mastectomy, I felt lost,” she reveals. “I didn’t feel feminine, nor did I feel masculine; I lost my sense of self. I couldn’t face myself in the mirror and didn’t want my husband to see me.” Breast reconstruction aided her recovery. “However, my relationship with my husband has changed slightly. I’m still working through it.”

Frantz finds solace in online forums, where she can converse freely with others who share similar experiences. For those who haven’t faced cancer, articulating the emotional turmoil can be challenging. Moreover, with cancer being such a close concern, discussing body image and sexuality may seem trivial, leading some healthcare providers to avoid these topics. For this reason, Larsen Haidle often addresses self-confidence and relationship dynamics during consultations: “These discussions aren’t trivial. You’re still human! Issues of sexuality and the need for acceptance from partners are critical yet often overlooked when women contemplate surgical options.”

Living as a previvor entails a continuous state of alertness. “You’re a healthy individual facing risk,” Larsen Haidle explains. “However, during screenings, a healthy person may feel anxious, fearing they might discover something unexpected.”

While surgeries can significantly lower risks, complete peace of mind remains elusive. BRCA mutations also elevate risks for fallopian, peritoneal, pancreatic, and, in men, prostate cancers — recent studies suggest a connection to uterine cancer as well. “It’s a lifelong adjustment,” Larsen Haidle advises, urging carriers to take charge of their health.

Sayani-Bromley has always been inclined to plan ahead. “My grandmother and her sisters were diagnosed with cancer in their 30s. I never had the chance to meet my grandmother, but I want to ensure I can meet my grandchildren.”

Her BRCA mutation was inherited from her father. “I vividly remember telling my dad about my positive results. There was this profound silence on the line, a moment that felt endless. I often think about the guilt he might carry for passing the mutation to me,” Sayani-Bromley reflects. “However, it has strengthened me, and I’m less likely to be caught off guard. This knowledge is a gift.”