Table 1.
Results of consecutive pharmacogenetic DPYD evaluations in patients with 12 GI cancer.
| Patient number | Primary tumor | Type of tissue specimen (biopsy or surgical material) | DPYD tissue result | DPYD blood result | MSI status (MSS vs MSIH) |
|---|---|---|---|---|---|
| 1 | Colon | Surgical material | omo wt | omo wt | MSS |
| 2 | Colon | Surgical material | G2194A hetero g/a (c.2194 G>A; V7321I) | G2194A hetero g/a (c.2194 G>A; V7321I) | MSS |
| 3 | Colon | Biopsy | omo wt | omo wt | MSS |
| 4 | Colon | Surgical material | omo wt | omo wt | MSS |
| 5 | EGJ | Biopsy | omo wt | omo wt | MSS |
| 6 | Colon | Surgical material | G2194A hetero g/a (c.2194 G>A; V7321I) | G2194A hetero g/a (c.2194 G>A; V7321I) | MSS |
| 7 | Colon | Surgical material | G2194A hetero g/a (c.2194 G>A; V7321I) | G2194A hetero g/a (c.2194 G>A; V7321I) | MSS |
| 8 | Colon | Surgical material | G2194A hetero g/a (c.2194 G>A; V7321I) | G2194A hetero g/a (c.2194 G>A; V7321I) | MSS |
| 9 | Pancreas | Biopsy | omo wt | omo wt | MSS |
| 10 | Colon | Biopsy | omo wt | omo wt | MSS |
| 11 | Colon | Surgical material | omo wt | omo wt | MSS |
| 12 | EGJ | Biopsy | G2194A hetero g/a (c.2194 G>A; V7321I) | G2194A hetero g/a (c.2194 G>A; V7321I) | MSS |
Abbreviations: M, male; F, female; EGJ, esophagogastric junction; GI, gastrointestinal; wt, wild type; hetero, heterozygote; MSS, microsatellite stable; MSI-H, high microsatellite instability.