Pharmacogenetics of colorectal cancer in a third-level hospital in Valencia
2024

Pharmacogenetics of Colorectal Cancer

Sample size: 96 publication Evidence: moderate

Author Information

Author(s): Ana Comes-Raga, Luis Sendra Gisbert, Goitzane Marcaida-Benito, Salvador F. Aliño Pellicer, María José Herrero Cervera

Primary Institution: Consorcio Hospital General Universitario de Valencia, Valencia, Spain

Hypothesis

The study aims to determine the frequency of genetic variants associated with adverse drug reactions and survival in colorectal cancer patients.

Conclusion

The study found that certain genetic variants were associated with lower survival rates in colorectal cancer patients.

Supporting Evidence

  • 3.5% of patients had the rs75017182 mutation in the DPYD gene.
  • 4.7% had the rs1801158 mutation in the DPYD gene.
  • 7.1% had the rs1801160 mutation in the DPYD gene.
  • 39.4% of patients had the *1/*1 genotype in the UGT1A1 gene.
  • 37.9% had the *1/*28 genotype in the UGT1A1 gene.
  • 19.7% had the *28/*28 genotype in the UGT1A1 gene.
  • 42% of patients developed neurotoxicity.
  • 68% of patients reported gastrointestinal reactions.

Takeaway

This study looked at how people's genes affect their response to cancer treatment, finding that some genetic changes can lead to worse outcomes.

Methodology

Genotyping of 25 SNPs was performed using MassArray technology, and correlations were assessed using logistic regression.

Limitations

The study results should be confirmed in a larger cohort with more powerful statistical analyses.

Participant Demographics

39% women, 56% men, ages 28 to 83, with a median age of 67 years.

Statistical Information

P-Value

0.006, <0.001, 0.052

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.1515/almed-2024-0146

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