AI Article Synopsis

  • * Methods: Researchers analyzed genetic data from 1,038 people, including a specific group of 127 individuals from Brazil, looking at allele distribution and similarities to other populations.
  • * Results: The findings revealed that 37% of the population carried at least three harmful genetic variations, and 38.6% had one harmful variation in homozygous form, suggesting the need for genetic testing before treatment.

Article Abstract

Aim: To investigate polymorphisms that are probable indicators of response variability during cancer treatment with 5-fluorouracil (rs16430, rs2279198, rs1801159 and rs17878362).

Materials And Methods: We investigated 1,038 individuals regarding allele distribution from different populations, out of which we genotyped 127 individuals from a Brazilian admixed population. Similarity analyses with parental populations were performed. Prevalence of potentially deleterious alleles was also evaluated.

Results: Thirty-seven percent of the population had at least three potentially deleterious alleles and 38.6% had at least one potentially deleterious allele in homozygosis.

Conclusion: Potentially deleterious alleles are present under diverse frequencies in different populations. Therefore, genotyping prior to 5-fluorouracil administration should be recommended.

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