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International Journal of Pharmacology
  Year: 2007 | Volume: 3 | Issue: 2 | Page No.: 130-136
DOI: 10.3923/ijp.2007.130.136
Possible Associations of Splice Site Mutation of Dihydropyrimidine Dehydrogenase (IVS14+1G>A) in Adverse Drug Reactions in Some Invasive Ductal Carcinoma Patients
Ch. Kalyana Kumar, Sudha Murthy and Kaiser Jamil

Abstract:
To determine the frequency of the IVS14+1G>A mutation in the DPD gene in the South Indian population, we have carried out PCR based genotyping allowing the rapid analysis of the IVS14+1G>A mutation by RFLP. For screening for the presence of this mutation a total of 112 breast cancer biopsy samples and 82 healthy controls were included in our study. Out of 112 breast cancer patients 72 individuals were on 5-FU treatment. In this group we identified 6 heterozygous and 2 homozygous mutations confirming the prevalence of about 5.3 and 1.7% mutations in the invasive Ductal carcinomas. In healthy controls out of 82 we found 2 (2.5%) naturally occurring heterozygous mutations. In this study the prevalence of the IVS14+1G>A mutations in IDC’S were found to be significant with an increased risk upon 5-FU administration. Mutations of the DPD gene results in severe DPD deficiency. DPD deficient patients have shown splice-site polymorphism, IVS14+G-A (i.e., a G to A alteration in the nucleotide at the exon14 acceptor splice site), the corresponding mRNA therefore lacks exon 14 and the enzymatic activity of the translated DPD protein being virtually absent. It is therefore concluded that genetic screening for the presence of this mutation in cancer patients would be useful before the administration of 5-FU, in the Indian population suffering from breast cancer.
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How to cite this article:

Ch. Kalyana Kumar, Sudha Murthy and Kaiser Jamil, 2007. Possible Associations of Splice Site Mutation of Dihydropyrimidine Dehydrogenase (IVS14+1G>A) in Adverse Drug Reactions in Some Invasive Ductal Carcinoma Patients. International Journal of Pharmacology, 3: 130-136.

DOI: 10.3923/ijp.2007.130.136

URL: https://scialert.net/abstract/?doi=ijp.2007.130.136

 
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