I have the BRCA1 mutation, and so do 2 of my daughters. Here's what we're doing to prevent breast and ovarian cancer.
- Jen Culton learned she had the BRCA1 gene mutation after her older sister's breast-cancer diagnosis.
- She decided to have two of her three daughters tested; they also have the BRCA1 gene mutation.
Jen Culton, a 48-year-old mom of four from Omaha, Nebraska, never thought much about genetic mutations. "I had read in magazines that Angelina Jolie had a preventative double mastectomy, and I thought, 'That's really aggressive for someone who doesn't even know if she's going to get breast cancer,'" Culton said. A family diagnosis changed her perspective on her own health — and that of her daughters.
In July 2013, Culton's older sister — who was 38 years old at the time — learned she had breast cancer. A genetic test showed she had a gene mutation called BRCA1 predisposing her to cancer, so her oncologist suggested all of her siblings get tested. That's when Jen learned she had the same mutation.
What to know about the BRCA gene mutation
According to the National Cancer Institute, people who inherit BRCA gene mutations have an increased risk of multiple cancers, particularly breast and ovarian. They also tend to develop these cancers earlier than people who don't carry these mutations.
People who learn they have these genetic mutations can take steps to screen for early signs of cancer, or to prevent the cancers from developing altogether.
Culton ultimately had all of her reproductive organs and her breasts surgically removed, drastically lowering her risk of developing ovarian or breast cancer. Now, she's tasked with potentially guiding her daughters down a similar path.
Two of Culton's daughters have also undergone genetic testing
Culton's two older daughters have already undergone genetic testing. So far, only Sammi — Jen's 19-year-old — has tested positive for the BRCA1 mutation. "I cried all day, because I felt guilty that I passed this on to her, but Sammi took the news extremely well," Culton said.
Sammi's already entertaining the idea of having the same surgeries her mom did, but it'll probably be a few years before she takes any medical-preventative action.
The National Comprehensive Cancer Network, an organization that develops preventative guidelines for people with a high risk of genetic conditions, currently advises medical providers to begin screening people with a BRCA1 or 2 mutation in their 20s regardless of when they learn about the mutation.
For people with a BRCA1 mutation, guidelines recommend routine breast imaging to detect early signs of breast cancer beginning at age 25. Screening may start sooner for people with a family member who had cancer at a younger age.
"It's very rare for a BRCA1 carrier to have breast cancer younger than age 25," Nicolette Chun, a genetics counselor at the Stanford Cancer Institute, said. "If there is a family history of breast cancer under age 30; we start MRI screening as young as 20."
In place of breast screening, people with BRCA mutations can have mastectomies, or surgical removal of the breasts, at any point. Medical experts usually recommend oophorectomies, or the removal of one or both ovaries, around age 40 or sooner for those who either don't want kids or are done having them.
How early is too early to test?
Culton's 10-year-old daughter, Daisy, has asked about the mutation, but Culton doesn't plan to screen her until she's at least 18. "My husband and I don't want to cause anxiety or put pressure on her, especially because you can't do anything if you find out you have the mutation that young," Culton said.
Experts agree that finding out about a mutation as a child or teen may do more harm than good.
Most major health organizations, including the National Society of Genetic Counselors, advise against testing minors for adult-onset conditions: There's no medical action to take, and learning about a mutation can cause unneeded fear and anxiety for years to come.
"When deciding about genetic testing, we have to consider the effects it's going to have on a person's healthcare, but we also have to think about the person's mental health," Skyler Jesz, a board-certified physician assistant who has worked with Culton and other patients to decide when to perform genetic testing, said. "It's difficult for an adult to have a conversation about an increased risk, let alone a 10-year-old."
While learning about a genetic mutation gave Culton a sense of control over her own health — and she feels a sense of responsibility over her daughters' well-being — protecting her daughters includes prioritizing their mental health. "I want Daisy to have a childhood," she said. "We can deal with this when she's older."
- Earthquake jolts Delhi and other parts of northern India
- World Bank pegs India's FY24 GDP growth at 6.3% as global headwinds emerge
- Musk's X testing game streaming, live shopping features
- CBSE opposes PIL in Delhi HC seeking common syllabus across India
- Public food stockholding: India urges WTO members to start text-based talks