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Biomarkers, omics and artificial intelligence for early detection of pancreatic cancer

Semin Cancer Biol. 2025 Jun;111:76-88. doi: 10.1016/j.semcancer.2025.02.009. Epub 2025 Feb 20.

ABSTRACT

Pancreatic ductal adenocarcinoma (PDAC) is frequently diagnosed in its late stages when treatment options are limited. Unlike other common cancers, there are no population-wide screening programmes for PDAC. Thus, early disease detection, although urgently needed, remains elusive. Individuals in certain high-risk groups are, however, offered screening or surveillance. Here we explore advances in understanding high-risk groups for PDAC and efforts to implement biomarker-driven detection of PDAC in these groups. We review current approaches to early detection biomarker development and the use of artificial intelligence as applied to electronic health records (EHRs) and social media. Finally, we address the cost-effectiveness of applying biomarker strategies for early detection of PDAC.

PMID:39986585 | DOI:10.1016/j.semcancer.2025.02.009

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Rare disease gene association discovery in the 100,000 Genomes Project

Nature, Published online: 26 February 2025; doi:10.1038/s41586-025-08623-w

A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.
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Imaging and outcome correlates of ctDNA methylation markers in prostate cancer: a comparative, cross-sectional [⁶⁸Ga]Ga-PSMA-11 PET/CT study

To validate the clinical utility of a previously identified circulating tumor DNA methylation marker (meth-ctDNA) panel for disease detection and survival outcomes, meth-ctDNA markers were compared to PSA leve...
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