Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

Recent findings in understanding the causal role of blood-detectable somatic protein-truncating DNA variants in leukemia prompt questions about generalizability of such observations for other cancer types. We used exome sequencing to compare 22 different cancer phenotypes from TCGA data (~8,000 samples) with more than 6,000 controls using a case-control study design and demonstrate that mosaic protein truncating variants in these genes are also associated with solid-tumor cancers. We analyzed tumor DNA samples from TCGA and observed that the cancer-associated mosaic variants are absent from the tumors.\n\nThrough analysis of different cancer phenotypes we observe gene-specificity for mosaic