Fig. 3: Association between DPYD genetic variant frequency and pretreatment DPD activity.

(A) Flow chart showing the distribution of all identified DPYD genetic variants according to the minor allele frequency (MAF) in the groups of partial DPD deficiency ([UH2]/[U] plasma ratio below or equal to 10) and normal DPD activity ([UH2]/[U] plasma ratio above 10) (number of patients are reported) (B) Distribution of DPYD genetic variants based on minor allele frequency (MAF) below 1% according to pretreatment DPD activity (number of patients and percentage are reported). (C) Distribution of the DPYD genetic variants with a MAF below 1% and predicted to impact DPD activity (CADD score > 15) in the group of patients exhibiting normal or low DPD activity (number of patients and percentage are reported).