May 24, 2024

New research reveals broadened cancer risks for individuals with Li Fraumeni syndrome

Li Fraumeni syndrome, a rare genetic disorder caused by a pathogenic variant in the TP53 gene, has long been known to significantly elevate the risk of developing multiple cancers. However, recent findings by an international research team led by QIMR Berghofer and Peter MacCallum Cancer Center have unveiled a broader spectrum of cancer risks associated with this hereditary condition than was previously understood.

The study, featured in JCO Precision Oncology, examined data from 146 TP53-positive families across Australia, Spain, and the U.S., including a total of 4,028 individuals. It has shed light on the increased susceptibility of individuals with Li Fraumeni syndrome to cancers such as leukemia, colorectal, lung, and gastric cancers, particularly showing higher risks in females as opposed to males.

Lead author Dr. Cristina Fortuno from QIMR Berghofer emphasized that these new findings, which offer precise estimations of cancer risks based on type, age, and sex, have the potential to revolutionize early cancer detection and treatment approaches for patients with Li Fraumeni syndrome.

The study’s calculations of specific cancer risks by age and sex underscore the enhanced lifetime risks for various cancers beyond the recognized core cancers associated with Li Fraumeni syndrome, Dr. Fortuno explained. This insight is essential for refining screening protocols and clinical management strategies for carriers of the TP53 gene mutation, enabling healthcare providers to detect and treat cancer at earlier stages.

Co-author Professor Amanda Spurdle, leading the Molecular Cancer Epidemiology Laboratory at QIMR Berghofer, supported the study’s endorsement of comprehensive surveillance methods encompassing brain and whole-body Magnetic Resonance Imaging. She highlighted the importance of early breast screening for women with Li Fraumeni syndrome and proposed exploring additional risk management tactics like colonoscopy, prostate cancer screening, and risk-reducing surgery to prevent ovarian cancer as standard care for these individuals.

Professor Paul James, clinical geneticist at Peter MacCallum Cancer Center and lead collaborator, stressed the significance of these findings for affected families. He noted that while routine screening and check-ups are crucial for individuals with Li Fraumeni syndrome, the ability to predict which cancers may manifest at different ages could be transformative and potentially life-changing. The research team hopes that this new knowledge will enhance current management guidelines for individuals with TP53 gene mutations and spur further investigations into Li Fraumeni syndrome.

Li Fraumeni syndrome affects approximately one in 10,000 individuals, with breast cancer, osteosarcoma, and soft tissue and brain cancers being the commonly associated core cancers. The latest research not only expands the understanding of cancer risks for those with this genetic syndrome but also paves the way for more tailored and effective management strategies to optimize patient outcomes

1. Source: Coherent Market Insights, Public sources, Desk research
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