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Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy
| Content Provider | Scilit |
|---|---|
| Author | Paré, Laia Paez, David Salazar, Juliana Rio, Elisabeth Del Tizzano, Eduardo Marcuello, Eugenio Baiget, Montserrat |
| Copyright Year | 2010 |
| Description | Journal: British journal of clinical pharmacology WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT • Dihydropyrimidine dehydrogenase (DPD) is the enzyme responsible for the elimination of approximately 80% of the administered dose of 5-fluorouracil (5-FU). • Mutations in the DPD-coding gene have been shown to increase the risk of severe toxicity in 5-FU treated patients. • The IVS14+1G>A is the most common DPYD mutation. WHAT THIS STUDY ADDS • The intragenic rearrangements of DPYD using multiplex ligation-dependent probe amplification (MLPA) were studied for the first time in a large series of 234 colorectal cancer patients treated with 5-FU-containing chemotherapy. • No deletions or duplications of one or more DPYD exons were detected. The presence of the IVS14+1G>A mutation was also excluded. • These data show that neither the large genomic rearrangements in the DPYD gene nor the IVS14+1G>A mutation are responsible for the serious toxicity associated with a 5-FU containing regimen in this cohort of Spanish patients. AIMS To study the relationship between the toxicity associated with a 5-FU-based therapy and the presence of (i) the large intragenic rearrangements in the DPYD gene and (ii) the IVS14+1G>A mutation. METHODS We used the multiplex ligation-dependent probe amplification technique (MLPA) to study genomic DNA from 234 colorectal cancer patients treated with 5-FU-based chemotherapy. RESULTS We did not detect any deletion/duplication in the DPYD gene. The presence of the IVS14+1G>A mutation was also excluded. CONCLUSIONS Neither the large genomic rearrangements in the DPYD gene nor the IVS14+1G>A mutation play a significant role in the development of serious toxicity associated with a 5-FU containing regimen. |
| Related Links | http://europepmc.org/articles/pmc2911557?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2911557/pdf http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2125.2010.03683.x/pdf |
| Ending Page | 272 |
| Page Count | 5 |
| Starting Page | 268 |
| e-ISSN | 13652125 |
| DOI | 10.1111/j.1365-2125.2010.03683.x |
| Journal | British journal of clinical pharmacology |
| Issue Number | 2 |
| Volume Number | 70 |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2010-04-12 |
| Access Restriction | Open |
| Subject Keyword | Journal: British journal of clinical pharmacology Gastroenterology and Hepatology Dihydropyrimidine Dehydrogenase Gene Multiplex Ligation‐dependent Probe Amplification (mlpa) |
| Content Type | Text |
| Resource Type | Article |
