Ovarian cancer and genetic mutations

I have been an oncology patient since 2019, the year in which I was diagnosed with high-grade serous ovarian cancer, particularly aggressive and advanced (stage IIIC). Since then, I have experienced a demanding journey in the National Health Service (NHS), with multiple surgeries and chemotherapy cycles, and I have experienced first-hand the importance, but also the obstacles, of accessing innovative responses.

Early on, I was asked to undergo a genetic study, which concluded that I carried the BRCA1 genetic mutation. This mutation is not only linked to an increased risk of ovarian cancer, but also of breast cancer. As soon as I finished the initial chemotherapy treatment protocol, I was prescribed a PARP inhibitor, an advanced and promising first-line maintenance therapy to prevent recurrence and contribute to more years of disease-free life. At that time, as financing for this drug had not yet been approved in Portugal, a request was made to Infarmed, which was rejected on the grounds that “my life was not at immediate risk”. It was only three years later, in a more fragile situation, after having suffered a recurrence and undergoing two very extensive surgeries and a new cycle of chemotherapy, that I finally had access to the drug.

This experience raises questions that cannot be ignored. Ovarian cancer continues to be one of the most deadly diseases among Portuguese women, almost always diagnosed late, due to the lack of effective screening, even worldwide, and because it often presents non-specific symptoms. In this context, information – especially genetic information – is vital.

Studies indicate that 10 to 15% of ovarian cancer cases are hereditary, with BRCA1 and BRCA2 mutations being the most prevalent. Understanding this predisposition could radically change the approach to the disease, allowing for more effective preventive measures and treatments at an earlier stage. However, genetic testing still remains out of reach for many women.

In this challenging scenario for patients, family members, caregivers, doctors and the entire scientific community, at the MOG Association one of our most important missions is to increase health literacy, raising awareness among women to listen to their body's signals and seek medical support if symptoms persist for more than two weeks.

More than ever, it is necessary to break the silence about ovarian cancer and talk openly about symptoms and diagnostic options. It is very important, even in healthy women, to never fail to tell the family doctor about the family history whenever there are diagnoses or deaths from breast or ovarian cancer (in women) or prostate and breast cancer (in men). In women who have already been diagnosed, it is up to the oncologist to refer the patient, at an early stage of the process, for testing at an Oncogenetics Center in the area, in order to anticipate the planning of the most appropriate strategies.

Information is not inevitable; on the contrary, it is power, it opens doors and paths of hope. It is an opportunity to take action to prevent and, with the help of doctors and science, to build a different future for ourselves and those around us.

Above all, it is time to ensure that access to innovation does not depend on bureaucracy, but rather on scientific evidence and clinical urgency. Scientific research saves lives, suffering and also financial resources.