Photo: Cornel Putan
A recent Center of Expertise for Rare Diseases focusing on cancer predisposition syndromes has launched, bringing together a diverse range of medical specialties. This multidisciplinary approach aims to improve diagnosis and care for individuals at increased risk of developing cancer.
The center includes experts in general surgery, gastroenterology, pathology, plastic surgery, dermatology, gynecology, cardiology, medical imaging, nephrology, neurology, urology, and genetics, as well as psychological support. Early identification of genetic predispositions to cancer is becoming increasingly important in preventative healthcare.
Cancer predisposition syndromes are genetic conditions that elevate the risk of developing various cancers, including breast, ovarian, colorectal, pancreatic, and other neoplasms, often at younger ages, specialists at OncoHelp explain. “These involve inherited mutations, passed down through families, that affect the mechanisms by which the body controls proper cell development and maintains the integrity of genetic information throughout life,” they state. Approximately one in 25 people may have such a syndrome, and around 10% of patients already diagnosed with cancer have an underlying hereditary predisposition.
According to Dr. Iulia Perva, a medical geneticist with OncoHelp – OncoHelp Oncology Center, “The center is coordinated by the OncoHelp Association, but the team of specialists was chosen from several hospitals in Timisoara to be able to offer an integrated approach. Practically, the patient is no longer sent from one place to another without a clear direction, but benefits from a well-established medical pathway.” She emphasizes that screening involves more than occasional tests, including periodic check-ups, targeted imaging investigations, genetic testing when indicated, and personalized surveillance protocols, all of which can increase the chances of early cancer detection and more effective intervention.
Identifying a cancer predisposition syndrome doesn’t guarantee the development of the disease, but it does indicate a higher risk. “So, we are not just treating the disease, but intervening to prevent its occurrence,” Dr. Perva says. “we explain to patients what a genetic risk means and how they can manage it in the long term, because the medicine of the future means prevention.” The inclusion of OncoHelp – OncoHelp Oncology Center among accredited units as a Center of Expertise in Rare Diseases is a significant step for a substantial number of patients.
Timely diagnosis of these conditions is crucial, as it allows patients to benefit from appropriate treatments should cancer develop. Often, cancers arising from predisposition syndromes respond differently to treatment than sporadic cancers, both in terms of medication, surgery, and radiation therapy. This highlights the importance of personalized medicine approaches.
