Journal: Clinical Cancer Research
Article Title: Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
doi: 10.1158/1078-0432.CCR-24-4251
Figure Lengend Snippet: Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in DDX41 genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.
Article Snippet: Overall, germline P/LP variants in the DDX41 gene were the most common finding, although predominantly in the CytoMol group, in line with previous studies ( , ).
Techniques: Diagnostic Assay, Comparison