Table 1.
Family #1 CYP2D6 and NAT2 Polymorphism Phenotypes
| ID# | Gender | Cancer(s) | Age at Dx | Smoker | CYP2D6 (Debrisoquine metabolism)* | NAT2 (Caffeine metabolism)** | NAT2 (Sulfa-methazine metabolism) |
|---|---|---|---|---|---|---|---|
| III-10 | M | Bladder
Lung |
59
77 |
? | 85.9% (rapid) | ||
| III-11 | M | Bladder
Lung |
58
72 |
Y | 86.4% (rapid) | ||
| III-12 | F | Bladder | 70 | Y | 81.5% (rapid) | ||
| III-13 | F | N | N | 52.7% (slow) | |||
| IV-2 | F | N | Y | MR=1.32 (intermediate) | N/D | ||
| IV-3 | F | N | Y | MR=3.89 (intermediate) | N/D | ||
| IV-5 | M | Prostate | 64 | N | MR=20.96 (poor) | N/D | |
| IV-6 | F | N | N | MR=20.74 (poor) | MR=0.89 (rapid) | ||
| IV-7 | F | N | N | MR=0.91 (extensive) | MR=0.04 (rapid) | ||
| IV-8 | M | N | N | MR=0.82 (extensive) | refused |
*
MR = Metabolic ratio of debrisoquine to 2-hydroxy-debrisoquine. The following values are used to assign the genotype based on the MR: Extensive metabolizer = 0–1, homozygous dominant genotype; intermediate metabolizer=1–12, heterozygous genotype; and deficient (poor) metabolizer >12, homozygous recessive genotype.
**
MR = Molar ratio of 5-acetylamino-6-formylamino-3methyluracil (AFMU) to 1-methylxanthine (1X)
N/D = sample inadequate