Understanding Your Cancer Risk: A Decision That Can Make a Difference
- After learning that they both carried a BRCA2 mutation, influencers Alix and Ashtin Earle saw the experience as an important opportunity to educate others about inherited cancer risk. A BRCA2 mutation is a change in the BRCA2 gene, which normally helps repair damaged DNA and protect cells from becoming cancerous. Some inherited BRCA2 mutations weaken that protection and raise the risk of certain cancers, including breast and ovarian cancer.
- Genetic testing can be done using a blood sample, saliva, or tissue collected during a biopsy. The results can provide important information about a person’s risk of developing cancer and may also help guide treatment decisions. By identifying specific genetic mutations associated with an increased cancer risk, testing can give doctors a better understanding of a patient’s individual risk and, for those diagnosed with breast cancer, help inform a more personalized approach to care.
- The U.S. Preventive Services Task Force (USPSTF) recommends women get mammograms every other year at the age of 40. The American Cancer Society recommends getting a mammogram every other year for women 55 and older.
- To further help you on your cancer journey, explore SurvivorNet’s proprietary AI tool, “My Health Questions.” This powerful resource, embedded across the SurvivorNet website, was built to bridge that gap by offering on-demand explanations of treatment options, clinical trials, side effects, insurance concerns, and more.
The BRCA2 gene plays an important role in protecting cells from becoming cancerous. When a person inherits a harmful mutation in BRCA2, their lifetime risk of developing breast cancer and certain other cancers—including ovarian, prostate and pancreatic cancer—can be significantly higher, the Breast Cancer Research Foundation explains.
Read More
Offering insight into how it felt learning about having a gene mutation while filming, Earle told E! News at the show’s premiere, “It was hard. Even the moments where I’m like, ‘I just want to go [be] alone and cry right now.’”
She said when they were going through it, she really didn’t pay too much attention to the cameras, “because we were so focused on each other and just being there and supporting each other.”
“It’s a really powerful story and I’m happy that we captured it. It’s unfortunate when things happen in life that aren’t the best, especially with health, but we had cameras up for all of this,” she added. “And that’s sort of the whole show, we just kept everything going as things were naturally happening in our lives.”
‘Higher Risk’ for Breast Cancer
In episode 7 of the series, their genetic counselor is seen informing them, “If you test positive, it doesn’t mean 100% you’re going to get cancer. It just means you’re 55 to 69% higher risk than the general population.”
View this post on Instagram
Earle’s sister, Ashtin, also offered insight into their plan after learning they had the gene mutation, telling TV Insider that they both have a genetic counselor and plan to get screened earlier.
After explaining that neither sister had previously known it was possible to carry a gene mutation that could increase the risk of certain cancers, Ashtin said, “So it was a really big learning experience for us, and we thought it would be great to be educational for other people out there who may not know that this is a thing.
“And now we both have a genetic counselor who kind of is guiding us through this, and she’s [Alix] at the age where she is able to start getting MRIs yearly … and I’m still a little young for that, so right now I’m just living life. But it was definitely really, really hard and a really intense moment, especially to be on camera, but I think it’ll be worth it to educate people hopefully.”
It’s important to understand that specific mutations in BRCA genes lead to an increased risk of developing breast cancer. People who have a family history of breast or ovarian cancer may want to consider being tested for mutations, like the Earle sisters have, particularly if the relative was diagnosed with cancer before age 50.
According to the National Cancer Institute, about “13% of women” in the general population will develop breast cancer sometime during their lives. By contrast, 55% to 72% of women who inherit a harmful BRCA1 or BRCA2 variant will develop breast cancer by 70 to 80 years of age.
Between 5% and 10% of breast cancer cases are thought to be hereditary. And about 10% of patients who undergo genetic testing will test positive for mutations in the BRCA1 or BRCA2 genes, Dr. Julie Rani Nangia, an assistant professor at Baylor College of Medicine, previously told SurvivorNet.
Expert Resources On Early Detection & Cancer Screenings
- Breast Cancer: Introduction to Prevention & Screening
- The Mammogram Debate: Should Women Start Breast Cancer Screening at 30?
- How to Avoid False Positive Cancer Results in Women With Dense Breasts: Ultrasounds Used in Addition To Mammograms
- A New Recommendation Adds To The List Of Drugs That Can Lower Breast Cancer Risk For Women With High Risk Of Developing The Disease
- Men With BRCA Gene Have More Than DOUBLE The Risk Of Developing Prostate Cancer, New Research Suggests
- Major Advance: PARP Inhibitor Pill Extends Life For Women With High Risk Breast Cancer & BRCA Mutations
“The genetic BRCA1 and (BRCA)2 mutations, if a woman has one of these mutations … it puts her at basically the highest quantifiable risk for getting breast cancer,” Dr. Elisa Port, a surgical oncologist at Mount Sinai, also told SurvivorNet in an earlier interview.
“We typically say between the 60 and 80 percent range. Having a BRCA1 and (BRCA)2 mutation also means that that person is at higher risk of getting breast cancer at an earlier age, and also maybe at risk for other cancers like ovarian cancer, like pancreatic cancer for men, prostate cancer and male breast cancer may be a concern.”
View this post on Instagram
Since the discovery of the BRCA mutations in the 1990s, doctors have gone on to identify many other gene mutations that put people at a higher risk of developing breast cancer.
“There’s actually eight to 10 genes that also can put someone at a higher risk for breast cancer,” Dr. Port says, adding that usually that risk isn’t as high as the BRCA mutations. These additional gene mutations include PALB2, ATM, TP53, CHEK2, PTEN, CDH1 and STK11.
“We call them more moderate penetrance genes and those genes, the risk of breast cancer associated with them can be anywhere from, say, 20 percent to 50 percent. So still very high, but lower than the BRCA genes that were the ones we originally described.”
Understanding Genetic Testing
Genetic testing for cancer is typically conducted in a medical setting, such as a primary care office or an OB-GYN clinic. However, some tests are now available for direct purchase, allowing individuals to explore their genetic risk independently.
Initially, genetic testing was recommended for a limited group of individuals based on specific risk factors, including a strong family history of breast cancer, personal cancer history, or certain ethnic backgrounds.
WATCH: Helping you understand genetic testing.
“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,” explains Dr. Port.
Guidelines from the National Comprehensive Cancer Network (NCCN) suggest that genetic testing should be prioritized for patients at higher risk for hereditary breast cancer. This includes individuals diagnosed with breast cancer before the age of 45, those with a strong familial history of the disease, and individuals of Ashkenazi Jewish descent.
Meanwhile, the American Society of Breast Surgeons (ASBrS) takes a broader approach, recommending genetic testing for all patients diagnosed with breast cancer.
These evolving recommendations reflect a growing emphasis on personalized medicine, ensuring that individuals at risk receive appropriate screening and guidance to manage their health proactively.
What If You Have the BRCA Gene Mutation?
Discovering a genetic mutation can be unsettling, but there are several options available to manage cancer risk effectively. These include enhanced screenings for early detection, prophylactic (risk-reducing) surgery to remove high-risk tissue and chemoprevention—the use of medications designed to lower the chances of developing cancer.
Interestingly, for individuals diagnosed with ovarian cancer, carrying a BRCA mutation may provide a treatment advantage when paired with a class of drugs known as PARP inhibitors. Approved by the FDA starting in 2014, these targeted therapies have transformed the landscape of ovarian cancer treatment.
PARP inhibitors function by blocking the protein PARP, which normally repairs damaged DNA. By preventing this repair process, the inhibitors selectively destroy cancerous cells while sparing healthy ones, making them a powerful treatment tool.
“The PARP inhibitor prevents the repair of the [damaged] single-strand DNA break, and your BRCA mutation prevents the repair of the double-strand DNA break,” explains Dr. Rebecca Arend, Associate Scientist at the University of Alabama, Birmingham, in an interview with SurvivorNet.
What You Need to Know About BRCA1 and BRCA2 Genes
This combination of genetic insight and advanced medical therapies highlights how precision medicine continues to evolve, offering more effective, tailored approaches to cancer prevention and treatment.
What to Consider When Weighing Preventive Mastectomy?
A prophylactic, or preventative, mastectomy is an operation where the breast tissue is removed to prevent cancer from developing in the future.
“Risk-reducing mastectomies are an operation where we take women at, usually, very high-risk for getting breast cancer for genetic mutation carriers, who are the ones at the highest risk; there’s unfortunately only one way to actually prevent breast cancer,” Dr. Port tells SurvivorNet.
“Women who are found to test positive for a genetic mutation really have two options,” Dr. Port explained. “One is what’s called high-risk surveillance, which means we check them every six months or so mammograms, MRIs with the hope that if God forbid, they develop breast cancer, we pick it up early. But that’s not prevention; it’s early detection.
“Early detection is a goal; it’s not a guarantee. For the woman who wants to be more proactive about actually preventing breast cancer, or as we say, reducing her risk, unfortunately, the only way to do that is to remove the actual tissue at risk, and that is the breast tissue,” she adds.
Some women decide to have their breasts reconstructed and have implants put in right after the mastectomy, while others don’t have reconstruction at all.
The benefits of a prophylactic or preventative surgery are:
- Significant reduction in cancer risk (from 80-90% to 1-2%)
- Nipples can often be spared
- Women can get reconstruction at the same time
What Are the Options if You Have a High Risk of Developing Breast Cancer?
If you’ve been diagnosed with a BRCA mutation, there are still steps you can take to lower your risk of developing a 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, previously told SurvivorNet.
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.
Additionally, about ten percent of breast cancers are hereditary, Dr. Ophira Ginsburg, Director of the High-Risk Cancer Program at NYU Langone’s Perlmutter Cancer Center, told SurvivorNet.
What this means is any genetic testing offered to the average woman will likely come back negative. That’s why she recommends screening usually only for women who have a family history of rare cancers, or family members with breast or ovarian cancer and other cancers associated with the Lynch Syndrome (a genetic condition that puts you at high risk for certain cancers), or if there’s a family history of common cancers diagnosed at a young age.
Should I Get Genetic Testing to Assess My Risk for Breast Cancer?
If you do have this family history, Dr. Ginsburg recommends asking about your cancer center’s hereditary cancer program and/or finding a genetic counselor through the National Society of Genetic Counselors (NSGC ) to discuss what kind of genetic testing is right for you.
When to Screen for Breast Cancer
Guidance on mammograms varies slightly by organization, which can cause confusion among patients, but we’re here to help.
In April 2024, the U.S. Preventive Services Task Force (USPSTF) updated its recommendation, advising all women at average risk to get a mammogram every other year starting at age 40 and continuing through age 74 — a change from its 2016 guidance, which set the starting age at 50.
The USPSTF said moving the starting age to 40 could save roughly 19% more lives, and noted that Black women face a 40% higher breast cancer mortality risk than white women, a disparity the earlier guidelines didn’t address.
The American Cancer Society’s guidance is close but not identical: annual mammograms starting at 45, moving to every other year (or annual, if preferred) starting at 55.
Women with a strong family history of breast cancer, a BRCA mutation, chest radiation before age 30, early menstruation (before 12), or dense breast tissue are considered higher risk and may need to start screening earlier—however, that conversation should happen with a doctor rather than by following a general guideline.
Questions To Ask Your Doctor
If you have a breast cancer screening coming up or have recently had one, you may have questions you want answered. SurvivorNet’s proprietary AI tool “My Health Questions” is designed specifically for patients and caregivers.
WATCH: How One Cancer Survivor and Her Sister Used ‘My Health Questions’ to Navigate Care
This powerful resource is embedded throughout the SurvivorNet website and delivers structured responses grounded in clinical guidelines and peer-reviewed research to help people better understand their treatment options and feel more confident navigating their care.
My Health Questions can also help patients prepare useful questions ahead of their next appointment.
Contributing: SurvivorNet Staff
Learn more about SurvivorNet's rigorous medical review process.
