Table 1 Clinical data of investigated patients, DPYD genotype and number of clones sequenced per patient.
| Â | Â | Â | Â | Â | Toxicity grade | Â | N clones | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Â | Sex | Age | Tumor | Regimen | hematologic | gastrointestinal | dermatologic | DPYD genotype (coding region/splice sites) | Total | Methylated |
Patients with severe 5-FU related toxicity | ||||||||||
1 | m | 53 | Gastric | 5FU-FA | 1 | 3 | 0 | - | 21 | 0 |
2 | f | 70 | Breast | CAPE | 0 | 3 | 0 | c.85T>C, C29R; c.496A>G, M166V | 20 | 0 |
3 | f | 55 | Gastric | CAPE-P | 3 | 0 | 0 | c.1601G>A, S534N | 21 | 0 |
4 | m | 74 | Colon | 5FU-FA-P | 4 | 4 | 0 | - | 20 | 0 |
5 | f | 53 | Colon | 5FU-FA-P | 3 | 1 | 0 | c.496A>G, M166V | 21 | 0 |
6 | m | 66 | Tonsil | 5FU-P | 2 | 3 | 3 | c.85T>C, C29R; 1236G>A, E412E | 20 | 0 |
7 | m | 53 | Oesophagus | 5FU-P | 4 | 4 | 0 | - | 20 | 0 |
8 | f | 54 | Breast | E-5FU-C | 3 | 1 | 0 | 1627A>G, I543V | 21 | 0 |
9 | f | 65 | Gastric | E-5FU-P | 3 | 1 | 2 | - | 22 | 0 |
10 | m | 79 | Oesophagus | 5FU-P | 2 | 3 | 0 | c.85T>C, C29R; c.1236G>A, E412E | 20 | 0 |
11 | f | 67 | Rectum | 5FU-P | 4 | 4 | 0 | c.496A>G, M166V | 22 | 0 |
12 | f | 57 | Gastric | E-5FU-P | 3 | 1 | 0 | c.85T>C, C29R; c.1236G>A, E412E; c.1627A>G, I543V | 20 | 0 |
13 | m | 57 | Rectum | 5FU | 3 | 0 | 0 | 1896T>C, F632F | 21 | 0 |
14 | m | 67 | unknowna | 5FU-IRI | 3 | 0 | 0 | c.85T>C, C29R; c.1627A>G, I543V | 24 | 0 |
15 | f | 50 | Rectum | 5FU-FA-P | 1 | 3 | 0 | c.85T>C, C29R | 25 | 0 |
16 | m | 75 | Gastric | 5FU | 2 | 3 | 0 | - | 21 | 0 |
17 | f | 47 | Breast | CAPE | 1 | 1 | 3 | c.85T>C, C29R; c.496A>G, M166V | 30 | 0 |
Control patients | ||||||||||
18 | f | 72 | Rectum | 5FU | 1 | 1 | 0 | - | 20 | 0 |
19 | f | 54 | Gastric | 5FU-FA-P | 2 | 1 | 0 | c.1679T>G, I560S | 21 | 0 |
20 | m | 59 | Pancreas | 5FU-FA-P | 0 | 1 | 0 | c.85T>C, C29R; c.1627A>G, I543V(H) | 20 | 0 |
21 | m | 62 | Colon | 5FU-FA-P | 0 | 1 | 0 | c.85T>C, C29R (H); c.496A>G, M166V, c.1236G>A, E412E | 19 | 0 |
22 | f | 64 | Colon | 5FU-FA | 0 | 0 | 0 | c.85T>C, C29R; c.1627A>G, I543V | 20 | 0 |
23 | m | 63 | Oesophagus | 5FU-P | 1 | 0 | 0 | - | 20 | 0 |
24 | f | 69 | Colon | 5FU-FA | 0 | 1 | 0 | c.85T>C, C29R (H); c.496A>G, M166V; c.2194G>A, V732I | 20 | 0 |
25 | m | 59 | Gastric | 5FU-FA | 1 | 1 | 0 | c.85T>C, C29R; c.1627A>G, I543V; 1896T>C, F632F | 21 | 0 |
26 | m | 59 | Colon | 5FU-FA-P | 1 | 1 | 0 | c.85T>C, C29R (H); c.496A>G, M166V; c.1627A>G, I543V | 20 | 0 |
27 | m | 62 | Gastric | E-CAPE-P | 2 | 1 | 2 | c.85T>C, C29R (H); c.496A>G, M166V; c.1236G>A, E412E c.1627A>G, I543V | 30 | 0 |