TABLE 6.
Detailed information on the 7 patients in the rare pathogenic DPYD variant group
| Rare pathogenic variant | Age | Sex | Cancer | Regimen | Side effects | Other DPYD variants | Other DPYS variants | Other UPB1 variants |
|---|---|---|---|---|---|---|---|---|
| c.596G>A (p.Ser199Asn) | 67 | Female | Colorectal | 5FU + L‐OHP |
Vomiting Grade 3 Diarrhea Grade 3 Neutropenia Grade 3 |
p.Ile543Val hom p.Arg29Cys hom |
c.‐1T>C het | No variant |
| c.733A>T (p.Ile245Phe) | 63 | Female | Stomach | 5FU + L‐OHP |
Nausea Grade 2 Vomiting Grade 2 Diarrhea Grade 3 |
p.Ile543Val het p.Met166Val het p.Arg29Cys hom |
c.‐1T>C hom | No variant |
| c.914C>A (p.Thr305Lys) | 66 | Female | Colorectal | 5FU + L‐OHP |
Diarrhea Grade 1 Oral Mucositis Grade 1 Hand‐foot syndrome Grade 1 Neutropenia Grade 2 |
p.Arg29Cys hom | c.‐1T>C het | No variant |
| c.1156G>T (p.Glu386Ter) | 48 | Male | Colorectal | FOLFOXIRI + α |
Nausea Grade 1 Neutropenia Grade 3 |
p.Arg29Cys hom | c.‐1T>C hom | No variant |
| c.1666A>C (p.Ser556Arg) | 25 | Male | Colorectal | 5FU + L‐OHP |
Nausea Grade 1 Vomiting Grade 1 Oral Mucositis Grade 1 Neutropenia Grade 1 |
p.Arg29Cys hom | c.‐1T>C hom | No variant |
| c.1712C>A (p.Ala571Asp) | 70 | Female | Colorectal | 5FU mono |
Nausea Grade 3 Diarrhea Grade 3 Neutropenia Grade 1 |
p.Arg29Cys het | c.‐1T>C hom | No variant |
| c.1863G>T (p.Trp621Cys) | 72 | Female | Colorectal | 5FU + L‐OHP |
Nausea Grade 1 Neutropenia Grade 3 |
p.Ile543Val het p.Arg29Cys hom p.Thr768Lys het |
c.‐1T>C hom | No variant |