Fig. 5: Forest plot of odds ratios for the association of NF1 mutations with personal history of malignancy across multiple cohorts for both the Clinical-NF1 and PV-Only groups.

A Forest plot showing the odds ratios (OR, indicated as a vertical tick), 95% confidence intervals (95%–CI, indicated as a horizontal line), and unadjusted p values, derived from 2-sided logistic regression, for personal history of malignancy within in the Clinical-NF1 group, compared to the Tested-Negative group, from five different cohorts: UK Biobank, PMBB, Ambry, All of Us, and Natera. The size of the boxes represents the weight of each study in the meta-analysis, with larger boxes corresponding to studies with higher precision (i.e., smaller standard errors). The overall combined OR and CI are shown at the bottom of the plot as diamonds, summarizing the meta-analysis results under both fixed-effect and random-effects models. The tau-squared (τ²) and I² statistics indicate the level of heterogeneity between the studies, with I² describing the percentage of total variation across studies due to heterogeneity rather than chance. B Forest plot showing the odds ratios (OR, indicated as a vertical tick), 95% confidence intervals (95%–CI, indicated as a horizontal line), and unadjusted p values, derived from 2-sided logistic regression, for personal history of malignancy within in the PV-Only group, compared to the Tested-Negative group, from five different cohorts: UK Biobank, PMBB, Ambry, All of Us, and Natera. The size of the boxes represents the weight of each study in the meta-analysis, with larger boxes corresponding to studies with higher precision (i.e., smaller standard errors). The overall combined OR and CI are shown at the bottom of the plot as diamonds, summarizing the meta-analysis results under both fixed-effect and random-effects models. The tau-squared (τ²) and I² statistics indicate the level of heterogeneity between the studies, with I² describing the percentage of total variation across studies due to heterogeneity rather than chance. In both cases, the meta-analysis shows a significantly increased odds of personal history of malignancy in association with the presence of an NF1 PV.