To test for an association between mosaic status and incident hematological cancer, we used a cause-specific Cox proportional hazards model to analyze time to a hematological cancer diagnosis from the date of DNA sampling, with right censoring at death and the endpoint of follow-up data. We performed a stratified analysis of the four cohorts, which included mosaic status and adjusted for age at DNA sampling, non-hematological cancer status (as a time-dependent covariate), ethnicity (two principal components) and sex (within the PLCO stratum). The hazard ratio estimate for mosaic status is 10.1 (95% CI=5.8 – 17.7) with a p-value of 3 × 10−10. A meta-analysis showed consistent results among cohorts and gave a very similar effect estimate (Supplementary Figure 10). These results estimate that the risk of hematological cancer is ten-fold higher for mosaic than for non-mosaic subjects.
