Pharmacogenetics of Colorectal Cancer in a Tertiary Hospital in Valencia
Author Information
Author(s): Ana Comes-Raga, Luis Sendra, Goitzane Marcaida-Benito, Salvador F. Aliño, María José Herrero
Primary Institution: Consorcio Hospital General Universitario de Valencia, Valencia, España
Hypothesis
The study aims to identify genetic variants associated with adverse effects and survival in colorectal cancer patients undergoing chemotherapy.
Conclusion
The study found significant differences in genetic variant frequencies among patients, with certain genotypes associated with lower survival rates.
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 experienced neurotoxicity as an adverse reaction.
- 68% of patients experienced gastrointestinal adverse reactions.
Takeaway
This study looked at how people's genes affect their response to cancer treatment, finding that some genetic variations can lead to worse outcomes.
Methodology
The study involved genotyping 25 SNPs in patients and analyzing associations between genetic variants and treatment outcomes using logistic regression methods.
Limitations
The study results are preliminary and need validation in a larger cohort.
Participant Demographics
39% women and 56% men, ages 28-83, with a median age of 67; mostly Spanish nationality.
Statistical Information
P-Value
0.006, <0.001, 0.052
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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