Shining a Light on Genetic Oncological Diseases: An Interview with Dr Zuzana Mažerikova

Oncological tumors pose a significant challenge to the healthcare system and have profound psychosocial implications for patients and their families. The role of genetics in oncological diseases, particularly germline mutations and hereditary tumour syndromes, is a critical area of research and medical practice.

We spoke with Dr Zuzana Mažerikova, a respected expert in the field of oncogenetics, to gain insights into genetically determined oncological diseases, their diagnosis, and treatment.

Could you tell us a bit about your background and how you came to specialise in oncogenetics?

My journey in medicine started with a deep interest in genetics and its impact on human health. Over the years, I have specialised in oncogenetics, focusing on the genetic basis of cancer and how it affects individuals and families. My goal is to provide comprehensive care and guidance to patients who may be at risk for hereditary cancer syndromes.

 Could you explain the difference between sporadic and hereditary types of oncological diseases?

Sporadic cancers are the most common form, occurring due to random mutations in genes throughout a person's life. These can be influenced by lifestyle and environmental factors. Hereditary cancers, on the other hand, arise from germline mutations—genetic changes passed down from parent to child. These mutations are present in every cell of the body and can predispose individuals to certain types of cancer.

How prevalent are hereditary cancer syndromes, and which types of cancer are most likely to have a genetic predisposition?

Hereditary cancer syndromes account for approximately 3-20% of all cancers, depending on the type. For instance, lung cancers have a lower hereditary component, while ovarian cancers may have a genetic predisposition in up to 20% of cases. Other cancers with known genetic links include subtypes of breast cancer, colorectal cancer, and certain rare types such as retinoblastoma.

What signs might suggest that a patient should seek genetic consultation?

Certain warning signs in a patient's personal or family history may indicate a need for genetic consultation. These include multiple primary tumours in different organs, tumours in paired organs, early onset of cancer, unusual histological types, and occurrences of rare cancers or tumours associated with other rare diseases. Recognising these signs can lead to more informed clinical decisions and patient management.

Can you describe the process and benefits of an oncogenetic consultation?

Oncogenetic consultation involves a dialogue between a genetic specialist and a patient to identify those who may benefit from genetic testing. The consultation includes evaluating family history, personal health history, and explaining the risks, benefits, and limitations of testing. It also involves follow-up discussions about test results and possible risk-reducing interventions. The goal is to provide patients with the knowledge and support they need to make informed decisions about their health.

What advances in genetic testing and treatment are shaping the future of oncology?

Recent advances in next-generation sequencing (NGS) enable rapid analysis of multiple genes simultaneously, helping to identify potential genetic causes of cancer. This multigene testing can reveal pathogenic variants associated with various hereditary tumour syndromes. Additionally, targeted therapies such as PARP inhibitors and checkpoint inhibitors have shown promising results for cancers with specific genetic mutations, offering new avenues for personalised treatment.

What is the significance of personalised medicine in oncology, and how do you envision the future?

Personalised medicine tailors treatment to the unique genetic profile of each patient, improving outcomes and minimising side effects. As we understand more about the molecular nature of cancer, we can develop targeted treatments that address specific genetic mutations. This approach will continue to transform oncology, leading to more effective and individualised care for patients.

What is your message to patients and families who may be dealing with a hereditary cancer diagnosis?

My message is one of hope and support. While a hereditary cancer diagnosis can be challenging, understanding the genetic factors at play allows for proactive management and preventive measures. We, geneticists, are here to guide patients through the process, from diagnosis to treatment and beyond, ensuring they receive the best possible care and support.