Ana , 52, was living with metastatic breast cancer . She had received hormone therapy, chemotherapy and targeted treatment; for a while everything seemed to stabilize, but the last CT scan showed new liver lesions. The message he heard was: “We have practically exhausted all standard lines.”
Her family began searching for information about personalized medicine for metastatic breast cancer and came across Nexus Oncology .
1. Genomic review and studies
- We reviewed his entire medical history and previous biopsies.
- We proposed a complete genomic profile in tissue and a liquid biopsy to look for actionable alterations.
- The report identified two key findings: mutations in ESR1 (related to resistance to certain hormone therapies) and in PIK3CA , a gene involved in the growth pathway of many tumor cells.
2. New treatment options
With that information:
- Hormone therapies that were likely no longer going to work due to the ESR1 mutation were ruled out.
- The door was opened to a combination of targeted endocrine therapy + PI3K inhibitor , available through a special access program for tumors with PIK3CA mutation.
- At the same time, the molecular information made it possible to locate a clinical trial that also accepted patients with that genetic profile.
Ana and her family decided to start the targeted treatment available in their country first, leaving the trial as a future option.
3. Follow-up with liquid biopsy
Every few weeks their condition was monitored with liquid biopsy , measuring the amount of circulating tumor DNA and the evolution of mutations. Over time, ctDNA decreased significantly, in parallel with the improvement in imaging tests.
“They didn’t promise me miracles. They offered me information and concrete options. Knowing why we chose that treatment, and not another, gave me a lot of peace.”
Stories like Ana’s illustrate how the combination of genomics + clinical trials + support can change the map of options, even in advanced disease.
