When Breast Cancer Risk Runs in the Family
- “The Bachelor” alum Lesley Anne Murphy tested positive for BRCA2, a genetic mutation that increases a person’s risk for developing breast and ovarian cancers.
- Now, as she’s pregnant with her second child, Murphy wonders if she has passed down the BRCA mutation to her two-year-old daughter Nora.
- There are many gene mutations that can raise your risk of breast cancer, but the BRCA genetic mutation raises people's risk levels the most.
- If a parent carries a BRCA gene mutation, there's a 50-50 chance the child is carrying it as well.
- If you discover you have an increased risk of developing breast cancer because of a BRCA mutation, you should discuss your options for moving forward with your doctor. Those options can include intensive surveillance, medication, and surgery.
Murphy previously tested positive for BRCA2, a genetic mutation that increases a person’s risk of developing breast and ovarian cancers, back in 2017.
Expert Info on BRCA Mutations
“I just think the further away you get from an experience, the more you forget about the pain, your corpse-like chest, and the every day tasks that all of a sudden seemed impossible like opening doors and trying to beat a child-proof pill top,” she explained. “In the last six years, I've been able to process everything and ultimately heal both physically and emotionally.
Murphy, who is married to certified drone pilot Alex Kavanagh, continued, “I'm often asked if I have any regrets since surgery. The answer is always a resounding ‘no.’ How could I regret living a healthier life and giving my daughter the best chance at spending the most time with her mom? And lest we forget: babies will thrive on formula just as much as they'll thrive on breast milk. Nobody gets a medal for either one.
“Now that I'm a mother to a little girl, the BRCA gene has new meaning. I do wonder if I've passed it down to her, but it doesn't consume me because I know that whatever happens, we'll have the knowledge and tools to move forward however she decides. We're all in this together.”
The travel blogger previously opened up on her website about how following her mom’s breast cancer diagnosis, she knew she “needed to be proactive” about her health.
She wrote on her website, “I'll always look fondly on that experience for giving me beautiful cancer-free boobs and a whole new community of supportive internet friends!”
Murphy, who has since been raising awareness about genetic testing for women, said that she now has a “1 percent chance of being diagnosed with breast cancer.”
What Is a BRCA Mutation & Why Does It Increase Cancer Risk?
BRCA stands for a “breast cancer gene mutation” and it is actually two genes (BRCA1 and BRCA2), each proteins that work as tumor suppressors and help repair damaged DNA. These genes are important for ensuring the stability of each cell's genetic material.
When either of these genes is altered, that mutation can mean that its protein product does not function properly, or that damaged DNA may not be repaired correctly.
These inherited mutations in BRCA1 and BRCA2 can increase the risk of female breast and ovarian cancers and have also been associated with increased risks for several other cancers, including fallopian tube and peritoneal cancer (which are ovarian cancers).
As Dr. Rebecca Arend, Associate Scientist at the University of Alabama, Birmingham, previously explained to SurvivorNet, “What a BRCA mutation is, is a defect in your ability to repair a double-strand break (in your DNA).”
When the BRCA gene has a mutation, that basically means that cells have a tougher time repairing their DNA the “right” way. When cells repair their DNA the wrong way, that's when cancer is more likely to develop.
According to the Centers for Disease Control and Prevention (CDC), approximately 1 in every 500 women in the U.S. has a mutation in either her BRCA1 or BRCA2 gene.
MORE: What Are the Options if You Have a High Risk of Developing Breast Cancer?
The CDC also explained that “about 50 out of 100 women with a BRCA1 or BRCA2 gene mutation will get breast cancer by the time they turn 70 years old, compared to only 7 out of 100 women in the general United States population.”
“About 30 out of 100 women with a BRCA1 or BRCA2 gene mutation will get ovarian cancer by the time they turn 70 years old, compared to fewer than 1 out of 100 women in the general U.S. population,” the CDC adds.
Who Can Have a BRCA Mutation?
The BRCA mutation (which is passed on from a father or a mother), can cause a variety of cancers. If one of your first-degree relatives carries a BRCA gene mutation, there is a 50-50 chance you're carrying it, too.
Since BRCA mutations aren't tied to the X or Y sex chromosome, that blood relative does not need to be a woman. You're just as likely to inherit the risks of cancers associated with BRCA from your father as you are from your mother.
Dr. Ophira Ginsburg On Who Should Get Genetic Testing To Determine Their Breast Cancer Risk
Ethnicity plays a role in how likely someone is to have a BRCA mutation, too. For example, people of Ashkenazi Jewish descent have a higher prevalence of harmful BRCA1 and BRCA2 mutations than people in the general U.S. population. Studies have also highlighted a higher prevalence of mutations among people with African ancestry.
When Breast Cancer Risk Runs in the Family
To help understand your inherited risk of developing certain cancer, like breast and ovarian, you and your loved ones have the option to undergo genetic testing.
“Genetic testing is an exploding area, and it started out with a very narrow field of women and men who were recommended to have it based on certain risk factors, family history of breast cancer or other cancers and also ethnic backgrounds,” Dr. Elisa Port, a surgical oncologist at Mount Sinai, previously told SurvivorNet.
“We now feel that casting a wider net with genetic testing is probably very prudent because finding out that one has a cancer predisposition gene can definitely change their course, their risk for cancer and what they might want to do about it.”
Genetic Testing for Breast Cancer: What is This Type of Test? And What Do My Results Mean?
There are many gene mutations that can raise your risk of breast cancer, including PALB2, ATM, TP53, CHEK2, PTEN, CDH1, and STK11. But the BRCA genetic mutation as discussed in Lesley Murphy’s story above puts people at the highest risk of developing breast cancer.
“If a woman has one of these mutations the genetic BRCA1 and (BRCA)2 mutations, it puts her at basically the highest quantifiable risk for getting breast cancer,” Dr. Port explained. “We typically say between the 60 (percent) and 80 percent range.”
Advice For Women At Risk
People who have a family history of breast or ovarian cancer, like Lesley Murphy, may want to consider being tested for mutations, particularly if the relative was diagnosed with cancer before age 50.
If you've been diagnosed with a BRCA mutation, there are still steps you can take to lower your risk of developing cancer.
“When I meet with women who are at an increased risk for breast cancer because of BRCA mutations, I like to talk about the three options that they have for managing their risk,” Dr. Freya Schnabel, Director of Breast Surgery at NYU Langone Medical Center, told SurvivorNet in an earlier interview. Those options are:
Intensive surveillance: This means keeping an eye on your health, in an attempt to catch disease early if it does present itself.
Medication: There are certain drugs available to lower the risk of developing breast cancer. But as with any medical treatment, risks, and benefits must be considered.
Surgery: This is the option that will lower a woman's chance of getting breast cancer as much as possible. It involves removing as much breast tissue as possible while attempting to preserve the nipple area, should a woman opt for reconstruction.
Contributing: SurvivorNet Staff
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