Publications by authors named "R Diasio"

Article Synopsis
  • Enhancers play a key role in controlling gene expression specific to certain tissues, and variations within these regions may impact cancer progression and treatment resistance, though the exact ways they do this are not fully understood.
  • Researchers studied an enhancer linked to the DPD gene, which is important for how the body processes the cancer drug 5-FU.
  • They found that a common genetic variant affects how well 5-FU works by influencing the recruitment of a transcription factor and altering the interaction between the enhancer and promoter, providing new insights into drug resistance mechanisms.
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Article Synopsis
  • - Dihydropyrimidine dehydrogenase (DPD) deficiency is a major cause of severe toxic reactions in patients treated with fluoropyrimidine (FP) drugs; a meta-analysis was done to evaluate the effect of specific DPYD gene variants and other clinical factors on predicting severe toxicity.
  • - The study focused on Caucasian patients not receiving FP dose adjustments due to DPD deficiency, finding that the prevalence of severe toxicity (G4-5) after 12 weeks was 7.3%, with certain genetic variants notably increasing risk.
  • - Significant findings indicate that combining DPYD variant data with clinical characteristics greatly enhances the ability to identify patients at risk for extreme FP-related toxicity, emphasizing the importance of
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Enhancers are critical for regulating tissue-specific gene expression, and genetic variants within enhancer regions have been suggested to contribute to various cancer-related processes, including therapeutic resistance. However, the precise mechanisms remain elusive. Using a well-defined drug-gene pair, we identified an enhancer region for dihydropyrimidine dehydrogenase (DPD, gene) expression that is relevant to the metabolism of the anti-cancer drug 5-fluorouracil (5-FU).

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