To investigate the relationship between mosaic status and non-hematological cancer, two types of analyses were done. First, in each of the three GENEVA case-control cancer studies (Lung Cancer, Prostate Cancer, Melanoma), we did logistic regression of mosaic status on case status and age at DNA sampling. Case status was not significant in any of the three studies or in a meta-analysis (one-tailed p=0.06). The estimated odds of having a clonal mosaic anomaly was higher among cancer cases than controls in the lung and prostate cancer studies, but lower in the melanoma study (Supplementary Fig. 11). Second, in the cohort studies (PLCO, HPFS, NHS and MEC), we did logistic regression of mosaic status on whether or not the subject had a non-hematological cancer prior to DNA sampling (excluding any hematological cancer cases). In these analyses the relationship is consistently positive, but small and not significant overall (one-tailed p=0.11, Supplementary Figure 12). In summary, the evidence hints at a positive relationship between mosaic status and non-hematological cancer, but lacks statistical significance. Therefore, further work is needed in larger sets of non-hematological cancer studies, including data on potential exposure, disease and treatment effects.
