Journal
BMC CANCER
Volume 10, Issue -, Pages -Publisher
BMC
DOI: 10.1186/1471-2407-10-470
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Funding
- Research Center of Portuguese Oncology Institute - Porto [CI-IPOP 4-2008]
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Background: Severe toxicity to 5-fluorouracil (5-FU) based chemotherapy in gastrointestinal cancer has been associated with constitutional genetic alterations of the dihydropyrimidine dehydrogenase gene (DPYD). Methods: In this study, we evaluated DPYD promoter methylation through quantitative methylation-specific PCR and screened DPYD for large intragenic rearrangements in peripheral blood from 45 patients with gastrointestinal cancers who developed severe 5-FU toxicity. DPYD promoter methylation was also assessed in tumor tissue from 29 patients Results: Two cases with the IVS14+1G > A exon 14 skipping mutation (c. 1905+1G > A), and one case carrying the 1845 G > T missense mutation (c. 1845G > T) in the DPYD gene were identified. However, DPYD promoter methylation and large DPYD intragenic rearrangements were absent in all cases analyzed. Conclusions: Our results indicate that DPYD promoter methylation and large intragenic rearrangements do not contribute significantly to the development of 5-FU severe toxicity in gastrointestinal cancer patients, supporting the need for additional studies on the mechanisms underlying genetic susceptibility to severe 5-FU toxicity.
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