Article
Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns.
eLife - 8 Mar 2023
Sørensen Simon Grund, Shrikhande Amruta, Poulsgaard Gustav Alexander, Christensen Mikkel Hovden, Bertl Johanna, Laursen Britt Elmedal, Hoffmann Eva R, Pedersen Jakob Skou
Abstract excerpt
DNA repair deficiencies in cancers may result in characteristic mutational patterns, as exemplified by deficiency of BRCA1/2 and efficacy prediction for PARP inhibitors. We trained and evaluated predictive models for loss-of-function (LOF) of 145 individual DNA damage response genes based on genome-wide mutational patterns, including structural variants, indels, and base-substitution signatures. We identified 24...
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