title: A novel PIK3CA hotspot mutation in Isfahanian breast cancer patients.
abstract: Somatic mutations of phosphatidylinositol 3-kinase (PI3K) catalytic subunit (PIK3CA) play an important role in tumorigenesis. Using PCR-SSCP, followed by sequencing, we examined the PIK3CA gene over the previously identified mutational hotspots in a panel of 50 breast cancer and 5 normal breast tissue, as well as 50 normal blood samples isolated from a population of Iranian patients. In the present study, the frequency of PIK3CA mutation was 14%. However, the previously identified hotspot mutations in exons 20 were completely absent in these breast cancer samples. Instead, we found a new hotspot mutation (3 of 50 samples) in exon 20.
authors.affiliation: Department of Biology, Faculty of Sciences, University of Isfahan, Hezar-Jarib, Isfahan, Iran.
authors.forename: Sedigheh
authors.initials: S
authors.lastname: Gharbi
authors.forename: Mehri
authors.initials: M
authors.lastname: Faghihi
authors.forename: Manoochehr
authors.initials: M
authors.lastname: Tavassoli
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000201:enzymology / Q000208:ethnology / Q000235:genetics* / Q000556:secondary; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008207:Lymphatic Metastasis; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009367:Neoplasm Staging; D016017:Odds Ratio; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D058534:Class I Phosphatidylinositol 3-Kinases; D019869:Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human