Fig. 5

Properties of BRCA1 methylation in blood samples of newborns and their parents. A Allele specificity of BRCA1 methylation in blood samples of newborns and their parents (N = 7). Preferential methylation of one of the alleles is evaluated and plotted as fold enrichment, with allele-specific preference in methylation in blood of newborns on the x-axis and in blood of parents on the y-axis. Gray shading indicates quadrants supporting concordant allelic methylation within families. Data points falling in the upper-right quadrant indicate the reference allele of rs799905 to be the predominantly methylated allele in both samples, while data points falling in the lower-left quadrant indicate the alternative allele of rs799905 to be the predominantly methylated allele in both samples. Dots (representing matched sample pairs) are colored according to the gender of the BRCA1-methylated parent. B Fractions of BRCA1 epimutation carriers among newborns and their parents. Fractions (epimutation frequencies) are plotted as dots, colored according to gender. Dashed lines connect age groups of the same gender. Solid vertical lines represent 95% CI. C Density plot of BRCA1 methylation levels (VEF value for region CpG14–34) in blood samples of newborn boys and girls (N = 9 and 113, respectively), their fathers and mothers (N = 16 and 46, respectively), and breast cancer patients (N = 44), colored according to gender. The lower and upper hinges of boxes correspond to the first (Q₁) and third (Q₃) quartiles, respectively; the bar in the middle correspond to the median value; the upper and lower whisker extend to Q₃ + 1.5*IQR and Q₁–1.5*IQR, respectively, while the values outside this range (outliers) are plotted as dots. Neither quantitative (ANOVA) nor qualitative (Wilcoxon rank sum) test show significant difference between any of these sets of blood VEF values