Fig. 2: Increased proportion of short cfDNA fragmentation.
From: Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns
A Median fragment size distributions of healthy TP53-wildtype, LFS-H, LFS-PC, and LFS-AC. TP53m-carriers exhibit increased frequency at fragments <150 bp. B Tukey boxplots showing the proportion of fragments within 3 size compartments: 10–150 bp = short, 151–180 bp = mono-nucleosomes, 250–500 bp = di-nucleosomes. TP53m-carriers, independent from cancer status, exhibit increased proportions within the 10–150 bp compartment. C Tukey boxplots showing the proportion of short cfDNA fragments normalized against the global proportion of short cfDNA fragments and proportion of total fragments mapped to each repeat element (normalized contribution). TP53m-carriers exhibit decreased contribution of short cfDNA fragments at these select 10 repeat elements. p-values were calculated using two-sided Student’s t-test compared to TP53-wildtype. D Tukey boxplots showing the proportion of short cfDNA fragments across each germline mutation group by functional TP53 mutation class. Numbers represent the number of samples with the number of patients in brackets. p-values were calculated using Mann–Whitney–Wilcoxon test compared to the median proportion of short cfDNA fragments from all cancer negative TP53m-carriers (red line). * = p-value < 0.05, ** = p-value < 0.01, *** = p-value < 0.001. Exact p-values are provided in Supplementary Data 2. Source data are provided as a Source Data file.
