A Polygenic Risk Model for Hereditary Cancer Syndromes

Authors

  • Lena Hoffmann Clinical Cancer Genetics, Heidelberg Author

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, oncogene

Abstract

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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A Polygenic Risk Model for Hereditary Cancer Syndromes

Published

2026-06-13

Issue

Section

Research Articles