DR-282 A pan-cancer catalogue of the mutational footprint of DNA repair deficiencies and their potential as biomarkers of treatment efficacy

Cancer develops by the accumulation of mutations in the DNA of individual cells. In many patients, DNA repair mechanisms are often perturbed early in cancer development, leading to an increased mutation rate and faster development of cancer. However, repair deficiencies can also make the cancer cells more susceptible to certain types of treatments. Better understanding and detection of DNA repair deficiencies may thus help improve the treatment of cancer patients.

Using the cancer genomics data from Hartwig Medical Foundation, we aim to characterize the pattern of DNA deficiencies across different cancer types. We further aim to improve the detection of DNA repair deficiencies through their effect on mutation rates and patterns across the genomes of cancer cells. Finally, we aim further clarify the relationship between DNA repair deficiencies and cancer treatment efficacy.

Jakob Skou Pedersen, Aarhus University, Denmark