A Polygenic Risk Model for Hereditary Cancer Syndromes
Keywords:
polygenic risk, hereditary cancer, genomics, biomarkers, microsatellite instability, immune checkpoint, liquid biopsy, circulating tumour DNA, whole-genome sequencing, RNA sequencing, single-cell sequencing, tumour suppressor, oncogeneAbstract
Polygenic background modifies penetrance in hereditary cancer. We built a polygenic risk model in 18,000 carriers of high-penetrance variants.
Polygenic scores stratified lifetime risk by more than twofold within carriers, enabling personalised surveillance for hereditary cancer syndromes.
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