title: Investigation of Potentially Deleterious Alleles for Response to Cancer Treatment with 5-Fluorouracil.
abstract: OBJECTIVE
  To investigate polymorphisms that are probable indicators of response variability during cancer treatment with 5-fluorouracil (rs16430, rs2279198, rs1801159 and rs17878362).
  
  
  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.
  
  
  CONCLUSIONS
  Potentially deleterious alleles are present under diverse frequencies in different populations. Therefore, genotyping prior to 5-fluorouracil administration should be recommended.
authors.affiliation: Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil Research Center of Oncology, University Hospital João de Barros Barreto, Belém, PA, Brazil.
authors.forename: Giovanna Chaves
authors.initials: GC
authors.lastname: Cavalcante
authors.affiliation: Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil Research Center of Oncology, University Hospital João de Barros Barreto, Belém, PA, Brazil.
authors.forename: Natalle Do Socorro Da Costa
authors.initials: Ndo S
authors.lastname: Freitas
authors.affiliation: Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil.
authors.forename: André Maurício
authors.initials: AM
authors.lastname: Ribeiro-Dos-Santos
authors.affiliation: Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil Research Center of Oncology, University Hospital João de Barros Barreto, Belém, PA, Brazil.
authors.forename: Darlen Cardoso
authors.initials: DC
authors.lastname: De Carvalho
authors.affiliation: Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil Research Center of Oncology, University Hospital João de Barros Barreto, Belém, PA, Brazil.
authors.forename: Ellen Moreno
authors.initials: EM
authors.lastname: Da Silva
authors.affiliation: Research Center of Oncology, University Hospital João de Barros Barreto, Belém, PA, Brazil.
authors.forename: Paulo Pimentel
authors.initials: PP
authors.lastname: De Assumpção
authors.affiliation: Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil Research Center of Oncology, University Hospital João de Barros Barreto, Belém, PA, Brazil.
authors.forename: Ândrea
authors.initials: Â
authors.lastname: Ribeiro-Dos-Santos
authors.affiliation: Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil Research Center of Oncology, University Hospital João de Barros Barreto, Belém, PA, Brazil sidneysantos@ufpa.br.
authors.forename: Sidney
authors.initials: S
authors.lastname: Santos
authors.affiliation: Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil Research Center of Oncology, University Hospital João de Barros Barreto, Belém, PA, Brazil.
authors.forename: Ney Pereira Carneiro
authors.initials: NP
authors.lastname: Dos Santos
mesh_terms: D000483:Alleles; D000970:Antineoplastic Agents / Q000009:adverse effects*; D044466:Asian People; D044383:Black People; D001938:Brazil; D042943:Dihydrouracil Dehydrogenase (NADP) / Q000235:genetics*; D005260:Female; D005472:Fluorouracil / Q000009:adverse effects*; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D009369:Neoplasms / Q000188:drug therapy* / Q000208:ethnology / Q000235:genetics; D009962:Orotate Phosphoribosyltransferase / Q000235:genetics*; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000235:genetics*; D011110:Polymorphism, Genetic; D013940:Thymidylate Synthase / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D044465:White People
chemical_list: D000970:Antineoplastic Agents; D009097:Multienzyme Complexes; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C027157:uridine 5'-monophosphate synthase; D042943:Dihydrouracil Dehydrogenase (NADP); C000600377:TYMS protein, human; D013940:Thymidylate Synthase; D009962:Orotate Phosphoribosyltransferase; D009964:Orotidine-5'-Phosphate Decarboxylase; D005472:Fluorouracil
keywords: 5-fluorouracil; Chemotherapy toxicity; DPYD; OPRT; TP53; TYMS; deleterious alleles