Fig. 1: Breakdown of patients with CHEK2 variants in the University of Chicago (UC) cohort.
From: Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants
A A total of 80 patients from 57 families (unique probands) with pathogenic CHEK2 variants (CHEK2-path) were identified from the UC HHM cohort. Amongst these 80 patients, 59 had a HM. In the subset of patients with the CHEK2 p.I157T variant, 34 had a HM. In the subset of patients who were included in the allele burden calculation who had sequential, clinical testing (N = 1085), 851 had a HM and 30 of these had CHEK2-path, with the most common variant being CHEK2 p.I157T (N = 15).
