TABLE 2.
Overview of included studies
| DPD phenotype | |||||||
|---|---|---|---|---|---|---|---|
| First author, year published (PMID) | n, measurements of [U] and/or [UH2] | DPYD*2A | DPYD*13 | D949V | HapB3 | Homozygous or compound for DPYD variants | Total DPYD variants |
| Ciccolini 2006 (17038885) | 140 | 0 | Not tested | Not tested | Not tested | 0 | 0 |
| Boisdron‐Celle 2007 (17064846) | 252 | 2 | Not tested | 7 | Not tested | 1 | 10 |
| Cai 2017 (28278081) | 244 | Not tested | Not tested | Not tested | Not tested | 0 | 0 |
| Meulendijks 2017 (28427087) | 550 | Excluded | 3 | 6 | 22 | 0 | 31 |
| Etienne‐Grimaldi 2017 a (28481884) | 205 | 3 b | 1 b | 3 b | 4 b | 0 | 0 |
| Boisdron‐celle‐2017 (28395758) | 1,116 | 12 | 2 | 11 | Not Tested | 1 | 26 |
| Launay 2017 (29682445) | 221 | Not Tested | Not Tested | Not Tested | Not Tested | 0 | 0 |
| Capitain 2020 a (32973417) | 472 | 37 | 3 | 42 | 8 | 2 | 92 |
| With 2022 (35397172) | 955 | Excluded | Excluded | Excluded | Excluded | Excluded | Excluded |
| Total DPD phenotype | 4,155 | 54 | 9 | 69 | 34 | 4 | 159 |
| DPYD genotype | |||||||
|---|---|---|---|---|---|---|---|
| First author, year published (PMID) | n, tested for DPYD variants | DPYD*2A | DPYD*13 | D949V | HapB3 | Homozygous or compound for DPYD variants | Total DPYD variants |
| Ruzzo 2017 (29065426) | 508 | 3 | 0 | 6 | 10 | 0 | 19 |
| Etienne‐Grimaldi 2017 a (28481884) | 243 | 3 | 1 | 3 | 4 | 0 | 11 |
| Froehlich 2015 (24923815) | 500 | 4 | 2 | 3 | 24 | 0 | 33 |
| Deenen 2011 (21498394) | 568 | 7 | 1 | 8 | 28 | c | 44 |
| Shakeel 2021 (33410339) | 582 | 8 | 1 | 12 | 15 | 2 | 38 |
| Wigle 2021 (33620159) | 1435 | 9 | 1 | 19 | 41 | 0 | 70 |
| Boige 2016 (26794347) | 1545 | 11 | 4 | 21 | 53 | 0 | 89 |
| Lunenburg 2018 (30361102) | 894 | 13 | 1 | 10 | 31 | 1 | 56 |
| Henricks 2018 (30348537) | 1103 | 16 | 1 | 17 | 51 | 4 | 85 |
| Capitain 2020 a (32973417) | 472 | 37 | 3 | 42 | 8 | 5 | 95 |
| DelRe 2019 (30723313) | 1254 | 61 | 0 | 24 | 0 | 0 | 85 |
| Meulendijks 2016 (26804235) | 1592 | Excluded | 3 | 19 | 57 | 0 | 79 |
| Total DPYD genotype | 10,696 | 172 | 18 | 184 | 322 | 12 | 704 |
Abbreviations: DPD, dihydropyrimidine dehydrogenase; DPYD, gene encoding dihydropyrimidine dehydrogenase; [U], plasma uracil concentration; [UH2], plasma dihydrouracil concentration.
a
Studies included in both screenings.
b
Of 243 tested.
c
Patients homozygous for HapB3 was found. Number not specifed in article. Homozygous patients was pooled with patients heterzygous for HapB3
[Correction added on 26 September 2022, after first online publication: Minor formatting/typographical changes have been made to Table 2.]