Annotated PGx Gene Information for TYMS
Submitted by: Sharon Marsh, Derek J. Van Booven, Howard L. McLeod (CREATE)
Reviewed by: Under Review
Submitted date: April 14th, 2008
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- Important Variants
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| Gene HGNC Name: | TYMS |
|---|---|
| Gene Common Name: | TYMS, TS, thymidylate synthase |
| Introductory Information: | Thymidylate synthase (TYMS) catalyses the methylation of dUMP to dTMP. As the sole de novo source of thymidylate in the cell, it is an important target for drugs such as 5-fluorouracil and methotrexate [16267625]. Over-expression of TYMS has been linked to drug resistance [7989939, 7577041]. For example, in 48 patients who received fluorouracil based therapy for metastatic colorectal cancer, patients with high TS expression had a median survival time of 15.4 months, compared to 18.4 months for patients with low TS expression (p=0.02) [10561213]. Along with the variants reported here, other factors influence expression and consequently therapeutic efficacy, such as gene amplification in tumour cells [14970324]. |
| Key PubMed IDs: | 16267625 7989939 7577041 10561213 14970324 |
| Key Pathways: | 5-fluorouracil, methotrexate |
| Drugs/Substrates: | 5-fluoruracil [15353299], methotrexate [16207145], gemcitabine [15655942], tomudex [15353299], capecitabine [15353299] |
| Phenotypes/Diseases: | N/A |
| Important Variants: | TSER (28bp tandem repeat in 5'UTR) - 2, 3, 4, 5, or 9 copies. Labeled TSER*2, TSER*3, TSER*4, TSER*5, TSER*9 1494del[TTAAAG] (6bp deletion in 3'UTR), sometimes labeled TSdel or TYMSdel TSER*3G>C (SNP within 2nd repeat of TSER*3) |