4 Sisters, 1 Cancer Gene: A Journey Through BRCA Testing and Byond

Christine and her family love to explore the world and make memories together. They travel regularly (a favorite destination being Aruba), and they fish often (and are darn good at it). Until recently, they were set to embark on another adventure by moving from Louisiana to Texas to build the house of their dreams. 

Unfortunately, life had different plans for them in the form of cancer. "Cancer kind of stopped us in our tracks to go to Texas to build the house and all that,” Christine explains. 

Christine, along with her three sisters, know the impact of cancer well after supporting their mother through a breast cancer diagnosis in 2013. Their mother was diagnosed at 67 years old and underwent surgery to remove the cancer, along with chemotherapy and radiation. Now, she’s 78 years old and cancer free. 

In 2023, Christine’s sister, Tracey, found a lump on her breast. While it started out small, it grew to the size of a golf ball within months. She was diagnosed with stage 3 breast cancer at the age of 47. She underwent a double mastectomy (a surgery where both breasts are removed) and 13 rounds of chemotherapy. Now, at 48 years old, she’s cancer free but still on therapy. 

Two cancer diagnoses in one family were surprising enough. “When mom was diagnosed, we were all so shocked,” Christine recalls. “But we never, ever thought that we would have cancer. My mom had it, and if you look at the statistics, that’s the one person closest to us who had cancer. So, we thought we were all good.” 

Not only did Christine’s family seem to defy statistics, but they also learned they would continue to face obstacles that would upend not just their plans to move to Texas, but also their health. Through a series of encounters with cancers as well as a supportive team of doctors, Christine and her family got tested for the BRCA gene, arming them with the knowledge to navigate a challenging – but hopeful – journey ahead. 

How Two Cancer Diagnoses Led to Genetic Testing 

Cancer can develop in anyone at any time. Because of their mother’s breast cancer diagnosis, Christine and her sisters knew they had a higher risk of developing cancer. They were vigilant about their health, including by staying on top of annual mammograms and Pap tests. 

But cancer can go undetected in standard screening tests. Fortunately, there are other ways to determine your risk of developing the disease, allowing you to take more steps to find and catch it as early as possible. 

After Tracey’s breast cancer diagnosis in 2023, Dr. Agustin Garcia, Professor of Medicine at LSU Health New Orleans and Hematology-Oncology Section Chief, suggested Christine and her family undergo genetic testing that includes BRCA testing, a gene that can increase a family’s risk of developing many cancers, including breast cancer, at a younger age. 

Genes, which you inherit from your parents, are parts of DNA. In addition to storing information about how you look and how your body works, they can also increase your risk of cancer. BRCA genes, which repair damaged DNA to protect you from some types of cancer, can have variants (or changes) that keep this gene from working as it should. Harmful BRCA variants, including BRCA1 and BRCA2, are linked to breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. 

"We had never heard of BRCA testing. Even when my mom was diagnosed in 2013, nobody ever told us to go get tested back then,” Christine recalls. 

Each sister followed Dr. Garcia’s advice by undergoing a simple test requiring a small sample of saliva, blood, or cells from a cheek swab.  

What they learned was life changing. Even though the odds of inheriting BRCA is 50%, Christine and her 3 sisters were all found to be BRCA-positive, increasing their risk of both breast cancer and ovarian cancer significantly. Roughly 3% of breast cancers and 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes. 

"We were all so devastated,” Christine says. “When something like that is told to you, your whole perspective of everything is changed.” 

The Benefits and Challenges of Genetic Knowledge 

When Christine learned she and her sisters inherited a harmful BRCA genetic mutation, she was overwhelmed to say the least. At times, she feels more anxious than before. 

“We worry about everything now. We're worried about somebody next to us coughing. We worry about how we need to change our diets, what’s the best exercise to do,” she explains. 

But genetic testing also armed Christine and her sisters with invaluable knowledge to reduce their risk of cancer through approaches like enhanced screening, risk-reducing surgeries, certain medications, and healthier lifestyle choices. 

After the positive BRCA test result, Christine and her sisters, Lisa and Shelly, each scheduled a risk-reducing surgery including the removal of the fallopian tubes and ovaries to reduce their chances of developing ovarian cancer, which is very difficult to screen for. 

At this point, she was referred to Dr. Tara Castellano, Assistant Professor of Gynecologic Oncology and Faculty Physician in the Division of Gynecologic Oncology at LSU LCMC Health Cancer Center, who ordered a CA 125 test, which can detect early signs of ovarian cancer in those with a very high risk of the disease. Christine’s results were much higher than average, which can indicate a problem. She then got an ultrasound and CT scan, which revealed a large mass in her ovaries.  

"I was just thinking I was in the early stages of this,” she recalls. “I didn’t feel anything, no pain, no problems, nothing.” 

In fact, she wasn’t even sure it was cancer. To fully understand what was going on, Dr. Castellano recommended surgery, which Christine had in March 2024. 

“When I went into surgery, I was thinking maybe it's not cancer,” she says. When she woke up, she learned she had stage 3 ovarian cancer. It had started in her fallopian tubes and moved to both ovaries and lymph nodes. She was 55 years old. 

Despite this devastating news, there was a significant silver lining. Without BRCA genetic testing, her cancer would have gone undetected for even longer, leaving time for it to progress further. 

As of June 2024, Christine has undergone three rounds of chemotherapy and has three more to go. She also continues to have her CA 125 levels checked after each round of chemotherapy. Each time, her numbers have been cut in half – a hopeful sign for Christine and her battle against ovarian cancer. 

Leaning on Support Systems and Moving Forward 

One cancer diagnosis in a family can be overwhelming. For Christine, she was forced to navigate not just her own diagnosis but the diagnoses of multiple family members. What’s more, her family will always face a higher risk of developing cancer. 

According to Christine, she leans heavily on her support system. “I could not ask for a better support system than with my sisters and my husband,” she says. 

Her family also relies on the guidance of Dr. Castellano. At some treatments or surgeries, Dr. Castellano would see all the sisters at once – each supporting the others during this difficult time. Christine has jokingly invited Dr. Castellano to family BBQs because she seems like family at this point. 

Moving forward, the entire family is dedicated to staying healthy. For Christine, this means getting a double mastectomy (to reduce the risk of breast cancer) and staying on top of screenings. 

It also means taking care of her overall health to prevent further problems. “I know Dr. Castellano’s going to cure this one. But my worst fear is something coming back,” she says. “That's why I want to change my way of eating and exercise more.” 

Her sister Tracey will undergo breast reconstruction and work on addressing lingering side effects from her treatment, including joint and muscle pain. As for her extended family, her nieces and nephews are in the process of undergoing BRCA genetic testing. So far, one niece has gotten a positive result. 

When it comes to health, knowledge is always power. It allows you to make informed decisions and take care of your well-being. For Christine and her family, knowing their BRCA statuses has been potentially lifesaving, helping them understand their individual risks of developing cancer and take actionable steps to care for themselves and each other.