This study describes the use of pyrosequencing to assay four previously described SNPs in the DPYD gene: DPYD*2A, DPYD*5, DPYD*6, and DPYD*9A.
Previously published allele frequencies for the DPYD gene were determined by use of restriction fragment length polymorphism (RFLP) analysis.
Known variant DPYD alleles do not explain DPD deficiency in cancer patients.
Genotype and allele frequencies for DPYD SNPs in Caucasian and African populations.
PTH results were available in all patients as were the biochemical markers with the exception of urinary DPYD and serum I-BALP, which were both assessed in the last consecutive 175 patients (54%).
BALP, I-BALP, ICTP, and DPYD showed a progressive increase with the increase of the appearances in bone, whereas CaS, Ca:Cr, and PTH did not.
Serum ICTP, urinary DPYD, urinary Ca:Cr, and CaS did not change according to different primary tumors.
In the PC subset, 72% of patients had BALP or I-BALP concentrations above the reference intervals, 66% and 63% had ICTP and DPYD concentrations above the reference intervals, 11% and 14% had CaS and Ca:Cr values above the reference intervals, and 21% had PTH concentrations above the reference interval.
The low number of patients with DPYD and I-BALP measurements precluded comparisons for these analytes.
Because urinary DPYD was more specific than serum ICTP (34), this analyte was additionally measured in ~50% of cases.
Notwithstanding the general correlation between bone turnover markers and the tumor load in bone, BALP, I-BALP, ICTP, and DPYD varied within a wide range in individual patients with similar disease extent.