title: No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer.
abstract: OBJECTIVE
  Sporadic colorectal cancer is influenced by numerous single nucleotide polymorphisms (SNPs), each with minor effects on the cancer risk. This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V variants within the Adenomatous polyposis coli gene (APC) and risk to develop colorectal cancer in Tunisian population.
  
  
  METHODS
  Direct sequencing was used to investigate three SNPs in the APC in 48 Tunisian sporadic colorectal cancer cases and 63 controls.
  
  
  RESULTS
  There was no statistically significant association between the I1307K, E1317Q and D1822V variants investigated and colorectal cancer risk.
  
  
  CONCLUSIONS
  The lack of association may show that these variants selected for this study are not involved in the colorectal carcinogenic process. Otherwise, the eventual biological effect is so little to go undetected, unless increasing the sample size.
authors.affiliation: Laboratoire de génétique, immunologie et pathologies humaines, faculté des sciences de Tunis, campus universitaire El Manar, Tunis 2092, Tunisia. karim.bougatef@fst.rnu.tn
authors.forename: K
authors.initials: K
authors.lastname: Bougatef
authors.forename: R
authors.initials: R
authors.lastname: Marrakchi
authors.forename: S
authors.initials: S
authors.lastname: Ouerhani
authors.forename: R
authors.initials: R
authors.lastname: Sassi
authors.forename: A
authors.initials: A
authors.lastname: Moussa
authors.forename: N
authors.initials: N
authors.lastname: Kourda
authors.forename: Y
authors.initials: Y
authors.lastname: Blondeau Lahely
authors.forename: T
authors.initials: T
authors.lastname: Najjar
authors.forename: S
authors.initials: S
authors.lastname: Ben Jilani
authors.forename: F
authors.initials: F
authors.lastname: Soubrier
authors.forename: A
authors.initials: A
authors.lastname: Ben Ammar Elgaaied
mesh_terms: D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D019943:Amino Acid Substitution; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005006:Ethnicity / Q000235:genetics; D017491:Genes, APC; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics; D012307:Risk Factors; D014416:Tunisia
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D017931:DNA Primers; D004273:DNA, Neoplasm; D004247:DNA