Common germline polymorphisms and somatic cancer mutations exhibit non-random positional overlap across the human genome

The authors analyzed genome-wide data to compare the positions of common germline variants and somatic mutations in cancer, testing for statistically significant overlap. They report that the overlap is non-random, suggesting that certain genomic regions are preferentially affected by both types of variation, potentially due to shared DNA damage or repair processes. The findings could help identify hotspots where germline variation influences somatic mutation patterns, with implications for understanding cancer risk and tumor evolution. Further work is needed to determine whether these overlaps are functional or merely reflect sequence context. The preprint is available on bioRxiv and has not yet undergone peer review.