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OncoHelp: Rare Disease Expertise Center for Cancer Predisposition Syndromes

by Olivia Martinez
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Timisoara Center Gains Expertise Status in Rare Cancer-Related Syndromes

A center in Timisoara, Romania, has been accredited as a Center of Expertise in Rare Diseases for oncopredisposing syndromes – genetic conditions that elevate the risk of cancer, often at younger ages. The designation, awarded to Asociația OncoHelp – Centrul de Oncologie OncoHelp, signifies a significant step forward in specialized care for individuals and families with these inherited predispositions.

Oncopredisposing syndromes stem from inherited genetic mutations that disrupt the body’s cellular development and genetic integrity controls. These changes can increase the risk of cancers such as breast, ovarian, colorectal, and pancreatic cancers, among others, according to medical professionals. Approximately one in 25 people may carry one of these syndromes, and around 10% of cancer patients have an underlying hereditary predisposition.

Early identification of these predispositions is crucial, enabling proactive monitoring and intervention strategies. The center aims to provide a streamlined patient experience, eliminating the need for individuals to navigate multiple specialists without clear direction.

“The center is coordinated by Asociația OncoHelp, but the team of specialists was chosen from several hospitals in Timișoara to be able to offer an integrated approach,” explained Dr. Iulia Perva, a medical geneticist at OncoHelp. “Practically, the patient is no longer sent from one place to another, without a clear direction, but benefits from a well-established medical route.”

Screening at the center extends beyond routine checkups to include periodic controls, targeted imaging investigations, genetic testing when appropriate, and personalized surveillance protocols. These comprehensive measures aim to improve early cancer detection and treatment effectiveness. The center brings together specialists from a wide range of medical fields, including general surgery, gastroenterology, pathology, plastic surgery, dermatology, gynecology, cardiology, medical imaging, nephrology, neurology, urology, and medical genetics. Patients also have access to psychological support.

Several syndromes fall under the umbrella of oncopredisposing conditions, including Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis, and BRCA1 and BRCA2 syndromes. Accurate diagnosis of these conditions is vital for ensuring patients receive the most appropriate cancer treatments should the disease develop.

“Identifying an oncopredisposing syndrome does not mean that the disease will certainly occur. However, it does mean that the risk is higher,” Dr. Perva stated. This accreditation underscores the growing importance of genetic screening and personalized medicine in cancer prevention and early detection, potentially improving outcomes for those at increased risk.

The accreditation of OncoHelp as a Center of Expertise in Rare Diseases is an important step for a significant number of patients,” Dr. Perva added.

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