From family history to preventive action: How genetic testing empowered a mother-daughter journey with breast cancer risk

Jen Black’s journey with genetic testing for hereditary cancer started with an itch. It wasn’t a literal impulse to scratch; it was an urge to be proactive about her health due to her family history of cancer.

Knowing that both of her grandmothers had passed from breast cancer, one of whom was only in her 40s, pushed Jen to research early screening and preventive measures.

“I know my mom missed out on special moments with her own mother, like shopping for wedding dresses and enjoying her grandchildren,” says Jen. “As a mother of three children, I want to know my cancer risks so I can be there for my family and those important moments.”

After asking her OB/GYN about her options for genetic testing, Jen began genetic testing for hereditary cancer in 2021, encouraging her mom to join her on the journey.

How genetic testing led to a life-saving discovery for mother and daughter

Jen’s genetic testing experience began with an extensive questionnaire about her family health history with the guidance of a genetic counselor. Genetic counseling sessions can help you identify genetic risks, translate complex genetic information into practical terms and find appropriate testing options so you can make thoughtful healthcare decisions.

“Sharing that information with my genetic counselor helped me get insurance coverage for my genetic testing,” says Jen, who also encouraged her mom to start a conversation with her physician about testing.

Christine Scott, Jen’s mother, says she’s thankful that her daughter was proactive and took the initiative on genetic testing. Christine got her regular mammograms and performed self-breast exams, but she hadn’t pursued any other preventative steps like genetic testing to understand her risk.  

“I was scared but optimistic about the results because of all the advances in treatments since my mother’s breast cancer in 1976,” Christine says. “It seemed that Jen’s testing was my sign that it was time to schedule my genetic testing. I wanted to be here and be healthy for my husband, children and grandchildren and experience all that life has to offer.”

Jen opted to take a saliva test for her testing (though blood testing is also an option, depending on the type of test you’re seeking). During the waiting period for her test results, her mother was approved for her testing. 

Their results came in just one day apart but showed the same finding: They had both tested positive for a BRCA1 mutation. BRCA1 and BRCA2 are two genes found within everyone’s genetic material. When mutations are detected within these genes, they can cause an increased risk of multiple types of cancer, including breast cancer and ovarian cancer in women, as well as breast and prostate cancer in men.

Upon receiving her results, Jen felt a mix of emotions. “Of course, knowing that my risk of getting cancer, especially breast cancer, had dramatically increased, fear set in,” Jen says. 
However, knowing that there were options to options to reduce her cancer risks, such as prophylactic surgery, Jen says her fear gave way to optimism.

Uncovering a “blessing in disguise” amid cancer and genetic testing

“Once I found out my mom’s results were positive, too, my focus was on getting her into appointments as quickly as possible due to her age,” says Jen.

Unfortunately, while Jen was able to schedule a breast MRI almost immediately, her mom’s appointment wouldn’t happen for another few months. Jen quickly called to switch their appointments to get her mom screened sooner. 

Swapping their appointments turned out to be “a blessing in disguise,” says Jen. “My mom’s MRI found a concerning spot in one of her breasts,” she explains. “This spot did not show up in a mammogram she’d had just a few months earlier. It turned out to be Stage I breast cancer.” 

While Christine says she felt scared and anxious awaiting these results for herself, she was even more worried about Jen’s results. “We did a lot of praying,” she says.

Fortunately, Jen’s mom was able to start surgery and chemotherapy right away. In 2021, Christine underwent a full hysterectomy, which included surgery to remove her uterus, cervix, fallopian tubes and ovaries. She then had a double mastectomy in early 2022, and began chemotherapy followed by breast reconstruction surgery in the fall of that year.

As for Jen, her MRI scan was clear. However, she didn’t want to constantly wonder which MRI appointment would be the one to finally detect signs of cancer.

“I have seen too many family members and friends go through painful cancer treatment and the effects it has on them, both mentally and physically, not to mention the effects that it has on their families,” she says. “If I had the opportunity to skip that chapter in my life, I would do it in a heartbeat.”

And that’s exactly what Jen did. After weighing her options with her healthcare team, Jen chose to undergo a prophylactic double mastectomy (a surgical procedure to remove both breasts simultaneously) as well as a full hysterectomy (surgery to remove the uterus, cervix, fallopian tubes and ovaries) to reduce her risk of breast and ovarian cancer.

The decision to pursue preventive cancer surgeries 

Regardless of her MRI results, Jen says she is certain she would have always gone ahead with both surgeries to reduce her cancer risk.

“I knew prophylactic surgery would be physically painful,” she explains. “But for me, the pain was well worth it knowing that my mind could be at ease not worrying what my future results would be at every MRI.”

Plus, even though Jen’s paternal grandmother underwent a partial mastectomy (a surgery that removes the breast cancer and some surrounding tissue, but preserves most of the breast), her breast cancer still came back and spread quickly throughout her body.

“We had to watch her fight again through chemo even though, unfortunately, we all knew what the outcome would be,” says Jen. “For me, going ahead with the double mastectomy (as well as breast reconstruction) and hysterectomy were easy decisions. My husband and I are blessed to have three children, and we had already decided that our family of five was just right. I know that decision would have been much harder if we had not completed our family together at that point in time.”

Since Jen had never had any surgeries before, she wasn’t sure how her body would react to such major procedures. To account for recovery times, her healthcare team recommended starting with the double mastectomy and breast reconstruction, with the full hysterectomy following later.

“I am blessed to have such a strong and supportive family and friends who were there cheering me on the whole time,” Jen says.

It’s been about two years since their surgeries, and Jen and her mom remain confident that they made the right decisions for their health.

“Having the surgeries almost eliminates certain cancers in my body, so overall, going ahead with both was a win,” says Jen. “If I had not chosen to have the surgeries, I would have been heavily monitored with mammograms and MRIs. Scheduling those appointments and waiting for those results every six months would have been draining and nerve-wracking. I was grateful that this was an option.”

Christine admits she worries now about her grandchildren and their potential hereditary cancer risks. Still, she feels optimistic given her and Jen’s outcomes, and the many advancements that continue to happen in medicine and genetic testing.

How genetic testing can empower important healthcare decisions

For Jen and her mom, genetic testing for hereditary cancer played a pivotal role in both their experiences. While her mom detected signs of breast cancer early enough to initiate treatment successfully, Jen was empowered with the right information to make an informed decision about her preventive surgeries.

Genetic counseling also helped Jen and her mom navigate this complicated process, not just for themselves, but for their family, too. Their genetic counselor encouraged them to share their BRCA1 results with other family members who might also have the same genetic mutation.

“After my mother and I tested positive for BRCA1, my sister quickly called to have her genetic testing done as well,” says Jen. Her test results also came back positive for BRCA1, and she is currently exploring her options for surgery.

Today, Jen still has a breast MRI scan every other year, just to be safe. 

“I know there are also other options for cancer screenings—for example, pancreatic cancer, which is one of the other cancers linked to BRCA1—but I have not started any of those yet,” she says. “I plan to do so after some more research.”

For Jen, discovering her BRCA1 mutation proved to be an empowering experience. “Having this knowledge about my genetic mutation made me feel more in control of my body and overall health,” she says. “The experience has urged me to make healthier choices not only for myself, but also for my young family.”

Still, Jen knows that the genetic testing journey will look different for everyone. “I respect everyone’s own decisions on what route to take, whether to test or not to test, and what to do after receiving those test results,” she says. “Personally, I wanted to do everything I could to prevent a positive breast cancer diagnosis and the treatments that can follow.”

For more information on hereditary cancer genetic testing, visit Labcorp and explore our resources for BRCAssure testing, genetic counseling and more.