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Role of genetic polymorphisms and mutations in colorectal cancer therapy (Review)

Marco Aiello1, Nadia Vella, Calogero Cannavò

  • 1Department of Biomedical Sciences, University of Catania, Catania, Italy.

Molecular Medicine Reports
|April 7, 2011
PubMed

Insights

Genetic variations in cancer patients can predict treatment response and toxicity. This review explores how specific gene polymorphisms influence the effectiveness and side effects of common colorectal cancer therapies, aiding personalized medicine.

Area of Science:

  • Pharmacogenomics
  • Oncology
  • Molecular Biology

Background:

  • Gene polymorphisms can influence drug metabolism, affecting chemotherapy efficacy and toxicity in cancer patients.
  • Conflicting data exist regarding the predictive role of genetic variations in cancer treatment outcomes.
  • Understanding these genetic factors is crucial for optimizing therapeutic strategies.

Purpose of the Study:

  • To review the clinical applications of genetic polymorphisms in colorectal cancer (CRC) patients undergoing chemotherapy.
  • To elucidate the predictive role of specific gene polymorphisms in response to common CRC treatments.
  • To highlight the importance of genetic profiling for tailoring cancer therapy.

Main Methods:

  • Review of existing literature on gene polymorphisms and their association with CRC treatment response and toxicity.
  • Analysis of studies involving common chemotherapy agents (e.g., irinotecan, oxaliplatin/5FU) and targeted therapies (e.g., cetuximab, bevacizumab).
  • Discussion of specific polymorphisms including UGT1A1*28, XPD, XRCC1, GSTP1, K-Ras, Fc, and VEGF C936T.

Main Results:

  • UGT1A1*28 polymorphism predicts response to irinotecan.
  • XPD and XRCC1 polymorphisms are associated with negative responses to oxaliplatin/5FU, while GSTP1 polymorphism improves response.
  • K-Ras wild-type status is essential for cetuximab efficacy; Fc polymorphisms affect progression-free survival.
  • VEGF C936T polymorphism may increase the risk of deep vein thrombosis with bevacizumab.

Conclusions:

  • Certain gene polymorphisms enhance drug effectiveness, while others increase toxicity in CRC patients.
  • Genetic profiling ('genetic habitus') is vital for developing personalized cancer treatment strategies.
  • This review underscores the potential of pharmacogenomics to optimize CRC therapy and improve patient outcomes.

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