Fig. 2: Estimated penetrance for hematological malignancies in heterozygotes of germline pathogenic/likely pathogenic myeloid malignancy predisposition gene variants in DiscovEHR (black) and UKBB (pink) is shown. | Leukemia

Fig. 2: Estimated penetrance for hematological malignancies in heterozygotes of germline pathogenic/likely pathogenic myeloid malignancy predisposition gene variants in DiscovEHR (black) and UKBB (pink) is shown.

From: Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts

Fig. 2

Penetrance was estimated as the frequency (percentage) of HM ever recorded in heterozygote individuals in the electronic health record and/or the tumor registry. Absolute number of heterozygotes with a hematological malignancy listed per gene in each cohort above the bar. Below each bar is the number of heterozygotes for each cohort per gene/gene group. Ratios, 95% confidence intervals and p-values are listed in Supplementary Table S4.

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