Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxicity to 5-fluorouracil

Japanese Journal of Cancer Research

Volumn 92, Issue 3, 2001, Pages 337-342

  Yamaguchi, Kensei ^a   Aral, Yoshiko ^a   Kanda, Yuzo ^a   Akagi, Kiwamu ^a  

^a SAITAMA CANCER CENTER   (Japan)

Author keywords

5FU based chemotherapy; Dihydropyrimidine dehydrogenase gene; Germline mutation

Indexed keywords

CISPLATIN; DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; FOLINATE CALCIUM; FOLINIC ACID; METHOTREXATE; NUCLEOTIDE; SEROTONIN ANTAGONIST;

ALLELE; ARTICLE; CANCER CHEMOTHERAPY; CANCER PATIENT; COLON CANCER; CONTROLLED STUDY; DIARRHEA; ESOPHAGUS CANCER; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GERM LINE; HEART ARRHYTHMIA; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; JAPAN; LEUKOPENIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NAUSEA; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; POPULATION; PRIORITY JOURNAL; RECTUM CANCER; STOMACH CANCER; THROMBOCYTOPENIA; VOLUNTEER;

ANTIMETABOLITES, ANTINEOPLASTIC; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BIOTRANSFORMATION; DIHYDROURACIL DEHYDROGENASE (NADP); DNA; FEMALE; FLUOROURACIL; FRAMESHIFT MUTATION; GERM-LINE MUTATION; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEOPLASMS; OXIDOREDUCTASES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REFERENCE VALUES; SEQUENCE DELETION;

EID: 0035074119     PISSN: 09105050     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1349-7006.2001.tb01100.x     Document Type: Article

References (19)

1. Clinical pharmacology of 5-fluorouracil
2. Correlation between dihydropyrimidine dehydrogenase activity in peripheral mononuclear cells and systemic clearance of fluorouracil in cancer patients
3. Relationship between dihydropyrimidine dehydrogenase activity and plasma 5-fluorouracil levels with evidence for circadian variation of enzyme activity and plasma drug levels in cancer patients receiving continuous infusion
4. Sorivudine and 5-fluorouracil; a clinically significant drug-drug interaction due to inhibition of dihydropyrimidine dehydrogenase
5. Human polymorphism in drug metabolism: Mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea
6. 296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression
7. Dihydropyrimidine dehydrogenase (DPD) deficiency: Identification and expression of missense mutations C29R, R886H and R235W
8. Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation
9. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
10. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity
11. Polymerase chain reaction-based approaches for detection of allelic loss in the p53 tumor suppressor gene in colon neoplasms
12. Characterization of the human dihydropyrimidine dehydrogenase gene
13. Dihydropyrimidine dehydrogenase deficiency: A novel mutation and expression of missense mutations in E. coli
14. Nomenclature for human DPYD alleles
15. Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects
16. Correlation between catalytic activity and protein content for the polymorphically expressed dihydropyrimidine dehydrogenase in human lymphocytes
17. Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity
18. Known variant DPYD alleles do not explain DPD deficiency in cancer patients