Next-generation sequencing has revolutionized diagnostics of hereditary cancer predisposition syndromes. Clinical protocols apply multigene panel tests (MGPTs) to investigate germline predisposition, however, rarely noncoding variants, not covered by MGPTs, can also elevate cancer risk. Our research aims to include whole genome sequencing in the clinical genetic diagnostic workflow of hereditary cancer predisposition syndromes (https://www.nature.com/articles/s41525-025-00461-z ).
Genotype-phenotype interactions are thoroughly investigated in frequent hereditary cancer syndromes. Nevertheless, specific cancer risks are not well characterized in rare syndromes. In addition to investigating gene-specific cancer risks in less frequent cancer predisposition syndromes, we aim to identify risk-modifying genetic variants ( (https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1005066/full ) which might contribute to more personalized risk stratifications.
We want to understand the great variability in cancer risks in individuals living with hereditary cancer predisposition. Using a mass cytometry panel, we were able to identify the increase of specific activated CD4+ T cells and B cells in healthy women living with germline pathogenic variants in BRCA1 (https://www.sciencedirect.com/science/article/pii/S2589004224011040?via%3Dihub). Following-up, we were able to confirm this phenotype on an independent dataset with single-cell transcriptomics (https://link.springer.com/article/10.1186/s12916-026-05188-x ) and, by a comprehensive approach of mass cytometry and multiarametric cytokine profiling, have detailed systemic immunological changes in Lynch syndrome.
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