Fig. 3: Risk of hematological and myeloid malignancy development in heterozygotes of germline pathogenic/likely pathogenic myeloid malignancy predisposition gene variants in both cohorts.

The DiscovEHR cohort is shown in A, B and UKBB cohort in C, D. Logistic regression odds ratios (OR) and 95% confidence intervals were adjusted for age, sex, body mass index (BMI) and smoking. For MM in DiscovEHR ETV6 is adjusted for sex, BMI and smoking only. Hem TFs, hematological transcription factors: RUNX1, GATA2, CEBPA, ETV6, MECOM. No MECOM heterozygotes in DiscovEHR had hematological malignancy, and only 1 in UKBB. *p ≤ 0.05; **p ≤ 0.01; ***p ≤ 0.001; and ****p ≤ 0.0001.