A team of international researchers, led by QIMR Berghofer and Peter MacCallum Cancer Center, has uncovered that individuals with Li Fraumeni syndrome, a hereditary cancer disorder, face a broader range of cancer risks than previously believed.
Li Fraumeni syndrome, a rare yet severe condition, arises from a mutation in the TP53 gene, significantly elevating the susceptibility to multiple cancers throughout life.
The study, recently published in JCO Precision Oncology, analyzed data from 146 TP53-positive families across Australia, Spain, and the U.S., encompassing 4,028 individuals.
The latest findings reveal an expanded spectrum of cancers associated with the syndrome, such as leukemia, colorectal, lung, and gastric cancers, with a higher incidence among females than males.
Dr. Cristina Fortuno, a researcher at QIMR Berghofer and the lead author, emphasized that the precise estimates of cancer risks based on type, age, and gender could enhance early detection and treatment strategies for individuals with Li Fraumeni syndrome.
Dr. Fortuno stated, “The study provided specific risk assessments for each type of cancer, considering age and gender, and highlighted elevated lifetime risks for additional cancers beyond the typical Li Fraumeni syndrome spectrum.”
Professor Amanda Spurdle, a co-author and Group Leader of QIMR Berghofer’s Molecular Cancer Epidemiology Laboratory, supported the adoption of comprehensive surveillance measures, including specialized brain and whole-body Magnetic Resonance Imaging, while suggesting the expansion of screening techniques.
Professor Spurdle noted, “The study underscores the importance of tailored breast screening from a young age and prompts a reevaluation of offering targeted risk management strategies like colonoscopy, prostate cancer screening, and risk-reducing surgeries as part of standard care for Li Fraumeni syndrome patients.”
Professor Paul James, a clinical geneticist and lead collaborator from the Peter MacCallum Cancer Center, underscored the significance of these findings for affected families, emphasizing the potential life-changing impact of personalized cancer risk assessments.
He remarked, “Regular screenings and check-ups are vital for individuals with Li Fraumeni syndrome, and the ability to predict cancer risks at different stages of life could be transformative. We anticipate that this newfound knowledge will enhance the current management protocols for individuals carrying these genetic mutations and stimulate further research in this field.”
Li Fraumeni syndrome affects approximately one in 10,000 individuals, with the primary cancers associated with the condition including sarcomas, breast cancer, osteosarcoma, and brain tumors.
More information:
Cristina Fortuno et al, Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum, JCO Precision Oncology (2024).
Provided by QIMR Berghofer
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New findings could be life-changing for genetic syndrome sufferers (2024, February 28) retrieved 28 February 2024 from https://medicalxpress.com/news/2024-02-life-genetic-syndrome.html
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