Detection of the G>C SNP and rare mutations in the 28-bp repeat of TYMS using gel-based capillary electrophoresis

Pharmacogenomics

Volumn 11, Issue 12, 2010, Pages 1751-1756

  Thomas, Fabienne ^a,b   Hoskins, Janelle M ^a   Dvorak, Anne ^a   Tan, Benjamin R ^c   McLeod, Howard L ^a  

^a University of North Carolina   (United States)

^b UNIVERSITÉ DE TOULOUSE   (France)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

2RC allele frequency; 5 UTR 6 bp insertion; capillary gel electrophoresis; QIAxcel; TSER*3 G C n TSER tandem repeat; TYMS; TYMS 2RC allele

Indexed keywords

CYTOSINE; GUANOSINE; THYMIDYLATE SYNTHASE;

5' UNTRANSLATED REGION; AFRICAN AMERICAN; ARTICLE; BASE PAIRING; CANCER ADJUVANT THERAPY; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CAUCASIAN; COHORT ANALYSIS; COLORECTAL CANCER; CONTROLLED STUDY; GEL ELECTROPHORESIS; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE REPEAT; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

5' UNTRANSLATED REGIONS; COHORT STUDIES; COLORECTAL NEOPLASMS; ELECTROPHORESIS, CAPILLARY; GENE FREQUENCY; GENOTYPE; HUMANS; MUTATION; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; TANDEM REPEAT SEQUENCES; THYMIDYLATE SYNTHASE;

EID: 78650387432     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.10.170     Document Type: Article

References (18)

1. Johnston PG, Fisher ER, Rockette HE et al.: The role of thymidylate synthase expression in prognosis and outcome of adjuvant chemotherapy in patients with rectal cancer. J. Clin. Oncol. 12(12), 2640-2647 (1994).
2. Johnston PG, Lenz HJ, Leichman CG et al.: Thymidylate synthase gene and protein expression correlate and are associated with response to 5-fuorouracil in human colorectal and gastric tumors. Cancer Res. 55(7), 1407-1412 (1995).
3. Leichman CG, Lenz HJ, Leichman L et al.: Quantitation of intratumoral thymidylate synthase expression predicts for disseminated colorectal cancer response and resistance to protracted-infusion fuorouracil and weekly leucovorin. J Clin. Oncol. 15(10), 3223-3229 (1997).
4. Lenz HJ, Danenberg KD, Leichman CG et al.: p53 and thymidylate synthase expression in untreated stage II colon cancer: associations with recurrence, survival, and site. Clin. Cancer Res. 4(5), 1227-1234 (1998).
5. Lenz HJ, Leichman CG, Danenberg KD et al.: Thymidylate synthase mRNA level in adenocarcinoma of the stomach: a predictor for primary tumor response and overall survival. J. Clin. Oncol. 14(1), 176-182 (1996).
6. Salonga D, Danenberg KD, Johnson M et al.: Colorectal tumors responding to 5-fuorouracil have low gene expression levels of dihydropyrimidine dehydrogenase, thymidylate synthase, and thymidine phosphorylase. Clin. Cancer Res. 6(4), 1322-1327 (2000).
7. Horie N, Aiba H, Oguro K, Hojo H, Takeishi K: Functional ana lysis and DNA polymorphism of the tandemly repeated sequences in the 5́-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct. Funct. 20(3), 191-197 (1995).
8. Kaneda S, Takeishi K, Ayusawa D et al.: Role in translation of a triple tandemly repeated sequence in the 5́-untranslated region of human thymidylate synthase mRNA. Nucleic Acids Res. 15(3), 1259-1270 (1987).
9. Kawakami K, Salonga D, Park JM et al.: Different lengths of a polymorphic repeat sequence in the thymidylate synthase gene affect translational effciency but not its gene expression. Clin. Cancer Res. 7(12), 4096-4101 (2001).
10. Pullarkat ST, Stoehlmacher J, Ghaderi V et al.: Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy. Pharmacogenomics J. 1(1), 65-70 (2001).
11. Kawakami K, Omura K, Kanehira E, Watanabe Y: Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers. Anticancer Res. 19(4B), 3249-3252 (1999).
12. Mandola MV, Stoehlmacher J, Muller-Weeks S et al.: A novel single nucleotide polymorphism within the 5́ tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity Cancer Res. 63(11), 2898-2904 (2003).
13. Kawakami K, Watanabe G: Identifcation and functional ana lysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Cancer Res. 63(18), 6004-6007 (2003).
14. Gusella M, Bolzonella C, Crepaldi G, Ferrazzi E, Padrini R: A novel G/C single-nucleotide polymorphism in the double 28-bp repeat thymidylate synthase allele. Pharmacogenomics J. 6(6), 421-424 (2006).
15. Lincz LF, Scorgie FE, Garg MB, Ackland SP: Identifcation of a novel single nucleotide polymorphism in the frst tandem repeat sequence of the thymidylate synthase 2R allele. Int. J. Cancer 120(9), 1930-1934 (2007).
16. De Bock CE, Garg MB, Scott N et al.: Association of thymidylate synthase enhancer region polymorphisms with thymidylate synthase activity in vivo. Pharmacogenomics J. (2010) (Epub ahead of print).
17. Marsh S, Collie-Duguid ES, Li T, Liu X, McLeod HL: Ethnic variation in the thymidylate synthase enhancer region polymorphism among Caucasian and Asian populations. Genomics 58(3), 310-312 (1999).
18. Kim SR, Ozawa S, Saito Y et al.: Fourteen novel genetic variations and haplotype structures of the TYMS gene encoding human thymidylate synthase (TS). Drug. Metab. Pharmacokinet. 21(6), 509-516 (2006).