Future Trends in Cancer Prevention and Interception in Cancer Predisposition Syndromes: Leveraging Insights From High-Risk Populations.

Authors

Yiming Wang, David Malkin, Steven M Lipkin

Published in

International journal of cancer. Jul 31, 2026. Epub Jul 31, 2026.

Abstract

Cancer predisposition syndromes (CPS), arising from germline pathogenic variants in cancer predisposition genes (CPGs), are increasingly recognized as major contributors to pediatric and adult malignancies. Recent genomic advances have significantly enhanced the diagnosis, surveillance, and management of CPS, providing a unique framework for cancer prevention and interception of pre-malignant lesions. Increased utilization of comprehensive germline and tumor-normal sequencing has improved diagnostic precision, allowing early identification of at-risk individuals, including those with and without a family history of cancer. Integration of genome and long-read sequencing technologies further increases diagnostic yield by detecting structural and noncoding variants. Early diagnosis strategies, such as newborn screening, have demonstrated clinical utility and cost-effectiveness in population studies, such as the TP53 R337H variant newborn screening in Brazil. Evidence-based surveillance protocols, supported by outcome data, have led to earlier tumor detection and improved survival. Novel 'liquid biopsy' approaches offer minimally invasive tools for surveillance, with the potential to detect malignancies prior to radiologic findings. Beyond early detection, emerging strategies aim to intercept tumor development. Medical prevention strategies such as metformin in Li-Fraumeni syndrome and aspirin in Lynch syndrome show promise in modifying cancer risk. Immunoprevention, particularly neoantigen-targeted vaccines in mismatch repair-deficient tumors, is an evolving frontier with preliminary evidence of immunogenicity and safety. Together, these advances represent a paradigm shift in CPS management, offering a model for precision cancer prevention. Continued international collaboration, longitudinal studies, and health economic evaluations will be critical to translating these innovations into clinical and public health practice.

PMID:
42538617
Bibliographic data and abstract were imported from PubMed on 01 Aug 2026.

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