Table 7

DPD activity and DPD genotype in patients with a partial DPD deficiencya

Patient no. [sex, age (yrs)]Primary cancerDPD activity (nmol/mg/h)GenotypebEffectcLocationd
1 (M, 63)Colon0.7485T→CC29REX2
2 (F, 49)Breast1.6 1627A→G I543V EX13
3 (F, 66)Breast3.1IVS14+1G→ADel (exon 14)IVS14
4 (M, 51)Rectal3.185T→CC29REX2
5 (F, 57)Colon3.9IVS14+1G→ADel (exon 14)IVS14
6 (F, 40)Colon4.0IVS14+1G→ADel (exon 14)IVS14
7 (M, 79)Colon4.4IVS14+1G→ADel (exon 14)IVS14
8 (F, 47)Colon4.9NDe
9 (M, 54)Colon5.1IVS14+1G→ADel (exon 14)IVS14
10 (M, 66)Colon5.2ND
11 (M, 66)Colon5.385T→CC29REX2
1627A→G 1543V EX13
12 (F, 60)Colon5.5IVS14+1G→ADel (exon 14)IVS14
1627A→G 1543V EX13
13 (F, 63)Colon5.9ND
14 (M, 53)Rectal6.3 2194G→A V732I EX18
  • a Known polymorphisms are written in italic.

  • b Nomenclature according to Antonarakis (19) .

  • c Effect of the mutation on DPD protein or mRNA.

  • d According to Wei et al. (18) .

  • e ND, not detected.