Melissa Robinson, 44, always knew she had an increased risk of breast cancer. Her maternal grandmother, great-aunt and two maternal aunts had it, and her mother, who died at 57 from other unrelated circumstances, left many unanswered questions about her health.
In 2024, Melissa’s gynecologist recommended she visit nurse practitioner Kiana Ohlson and Dr. Iqbal Garcha at Northside Hospital Cancer Institute’s High Risk Clinic, where they would determine her risk and formulate a care plan for proper screenings, risk management and ongoing surveillance.
“Since turning 35, I have received a mammogram each year and all of them were clear,” Melissa recalled. “It wasn't until I visited the High Risk Clinic in 2024 that an MRI was ordered, partially because I have dense breast tissue.”
During that visit, a formal risk assessment was conducted, and her lifetime risk for breast cancer was calculated to be 24%. This risk assessment took into account her family history of breast cancer on her maternal side, along with her reproductive history, breast density and other contributing factors. Women with a lifetime risk greater than 20% and dense breast tissue are advised to consider supplemental imaging.
“In January 2024, the MRI scan revealed four masses in my breast, which were subsequently biopsied and confirmed to be benign. At that point, Kiana recommended undergoing genetic testing and I thought ‘why not?’ My maternal aunt with breast cancer already had negative genetic testing, but I had already met my deductible for the year, so I thought I better be safe and get tested,” Melissa explained.
Upon receiving genetic testing, Melissa discovered that she had inherited a mutation in the BRCA2 gene, placing her at a significantly higher risk for cancer than doctors initially anticipated. Her lifetime risk of developing cancer was estimated to exceed 60% due to the presence of this mutation.
Melissa was puzzled by the fact that her maternal aunt, who had breast cancer, tested negative for any genetic mutations. It is important to understand that not all breast cancers are hereditary (caused by a specific genetic mutation); some follow familial patterns.
Only 5%-10% of breast cancers are hereditary, while 15%-25% are considered familial. In familial cases, a negative genetic test result does not eliminate the risk of breast cancer. The risk may be influenced by the interaction of multiple genes, environmental factors, or shared lifestyle behaviors within a family.
Further analysis revealed that Melissa’s BRCA2 mutation did not come from her maternal side but was inherited from her paternal side.
“I was shocked because I had no idea I could inherit breast cancer genes from my father,” Melissa said. “After my test results came back, Kiana recommended that both my father and brother be tested so they could be proactive about their health as well.
“My father's test results came back positive for the BRCA2 gene mutation, which provided further clarity. Since each child has a 50/50 chance of inheriting the same mutation, my brother also got tested and was thankfully negative. Men are also at higher risk of prostate, pancreatic and male breast cancer when inheriting this mutation, so I plan to have my son tested for the gene when he turns 18. Knowledge is power.”
BRCA genes are tumor suppressor genes that play a crucial role in repairing damaged DNA and preventing the growth of cancerous cells. Each person inherits one copy of the BRCA gene from their mother and one from their father. If either of these genes is mutated, it can significantly increase the risk of developing certain cancers, such as breast and ovarian cancer.
Now, the doctors have developed a clear plan of action for Melissa, aligned with national cancer guidelines and evidence-based practices for early detection and prevention, tailored to her BRCA2 genetic mutation. The High Risk Clinic provided Melissa with a complementary consultation with a nutritionist to discuss lifestyle changes to her diet, such as foods to avoid and foods that help with cancer prevention.
In June 2024, Melissa underwent a bilateral salpingo-oophorectomy with hysterectomy to reduce her risk of ovarian cancer. Individuals with a BRCA2 mutation have an elevated lifetime risk of ovarian cancer, estimated at 13%-29%, compared to 1% in the general population. They are also at increased risk for pancreatic cancer. To screen for early detection, Melissa underwent an endoscopic ultrasound (EUS) and a specialized MRI of the abdomen.
Further gene testing also determined Melissa was at risk of developing polyps, an abnormal cluster of cells that, if not removed early, could become cancerous. After a colonoscopy, five polyps were found, which came back negative. All other tests were negative as well.
Melissa will continue with annual screening mammograms, alternating with annual screening breast MRIs to detect cancer at an earlier and thus more treatable stage. She is also planning on a mastectomy this year to further reduce her breast cancer risk.
If it weren’t for genetic testing, Melissa admits she would have never known her risk or had the chance to get ahead of a potential future diagnosis.
“If I didn’t move forward with the genetic testing, I would have waited until I was older to get some of these tests done, and by then, it may have been too late,” Melissa mentioned. “The High Risk Clinic gave me the chance to discover my risk and potentially save me from a later diagnosis. I am grateful the team provided me the opportunity to make informed decisions for myself and my family, providing us more time and options to consider.”
“To truly prioritize cancer prevention and early diagnosis, genetic testing must become a standard part of patient care,” explained Kiana, who is clinical coordinator of oncology support services for the High Risk Clinic. “Expanding access and offering testing to more patients as a preventative measure can help identify risks earlier, guide personalized care plans, and ultimately save lives. Ensuring that genetic testing is accessible to all requires a concerted effort from health care providers, institutions and policymakers. By making this a routine aspect of care, we can move closer to a future where cancer prevention is proactive, equitable and far-reaching.”
“Most people believe their breast cancer risk comes from the maternal side, but that’s not always the case,” Melissa said. “It’s important to know your history and understand your risk on both sides. I’m thankful to the Northside High Risk Clinic for providing me a great sense of calmness I would not have otherwise without the additional testing.”
If you or someone you love are at risk of breast cancer, or you're unsure about your risk, talk to your primary care physician today or visit the High Risk Clinic for more information.
*The health story shared here is for informational purposes only and is not medical advice. Patients should consult with their own physician before making medical decisions.
