University of Toronto
Cancer Study Finds Protein-Truncating Mutations Overrepresented in Specific Mutational Signatures
Researchers linked stop-gain mutations stemming from smoking, APOBEC enzyme activity, and reactive oxygen species to related mutational signatures, genes, and pathways.
Multimodal Cell-Free DNA Test May Help Detect Cancer Early in Li-Fraumeni Syndrome Patients
Researchers analyzed cfDNA from blood focusing on genomic, fragmentomic, and epigenomic features linked to cancer in individuals with germline TP53 mutations.
Blood Pressure Genetic Variants Linked to Regulatory Functions, Cardiovascular Pathways
Using massively parallel reporter assays and other approaches, researchers explored the functional effects of blood pressure-associated variants and narrowed in on causal variants.
Breast Cancer Study Leads to New Susceptibility Gene, Potential Treatment Strategies
Researchers found risk variants in the DNA damage checkpoint gene ATRIP in a Polish founder population and linked the gene to breast cancer risk and HRD in other populations.
Researchers are advancing a multiomic method they hope can improve care for patients who have inherited a dramatic risk of developing cancer.