Table 1.
DPYD variant | NCBI SNP reference | Nucleotide change | Protein effect | RRa |
---|---|---|---|---|
DPYD*2A | rs3918290 | 1905+1G>A | Exon Skipping | 2.87 |
DPYD*13 | rs55886062 | 1679 T>G | Ile 560 Ser | 4.3 |
c.2846A>T | rs67376798 | 2846 A>T | Asp 949 Val | 3.11 |
HapB3 | s56038477 | 1236 G>A | Glu 412 Glu, in haplotype B3 | 1.72 |
relative risk for overall grade ≥3 fluoropyrimidine-related toxicity compared with non-carriers of this variant (52). CPIC, Clinical Pharmacogenetics Implementation Consortium; HapB3, haplotype B3; RR, relative risk; NCBI, National Center for Biotechnology Information.