title: HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer.
abstract: Although HER2/PTEN pathway is commonly disrupted in cancer, association of HER2 and PTEN polymorphisms with breast cancer (BC) remains controversial. We investigated the HER2 Ile655 Val and PTEN IVS4 polymorphisms in patients with BC in Turkish population. HER2 Ile655Val (rs 1136201) and PTEN IVS4 (rs 3830675) polymorphisms were determined using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) in blood samples of 118 BC patients and 118 age-matched healthy controls. We found that the frequency of the Ile/Val genotype of HER2 Ile655Val gene was significantly higher in BC patients (p < 0.009; OR: 1,983 95 % CI: 1.181-3.328). The presence of ATCTT insertion (+/+) genotype at downstream of exon 4 in intron 4 of PTEN IVS4 gene was also associated with 1.83 fold decreased risk of BC development (p < 0.033; OR: 1.83, 95 % CI: 1.11-3.03). Analysis on clinico-pathological parameters showed neither HER2 Ile655Val nor PTEN IVS4 genotypes were not associated with any of the variables (p > 0.05).In conclusion, our findings suggest that the Ile/Val genotype of HER2 and ATCTT insertion (+/+) genotype of PTEN IVS4 gene may play an important role as genetic markers for breast cancer risk, but both genes genotypes may not be useful for predicting tumor prognosis in Turkish population.
authors.affiliation: Department of Molecular Medicine, Istanbul University, Experimental Medicine and Research Institute (DETAE), Istanbul, 34100, Turkey.
authors.forename: Oguz
authors.initials: O
authors.lastname: Ozturk
authors.forename: Emel
authors.initials: E
authors.lastname: Canbay
authors.forename: Ozlem T
authors.initials: OT
authors.lastname: Kahraman
authors.forename: M
authors.initials: M
authors.lastname: Fatih Seyhan
authors.forename: Fatih
authors.initials: F
authors.lastname: Aydogan
authors.forename: Varol
authors.initials: V
authors.lastname: Celik
authors.forename: Cihan
authors.initials: C
authors.lastname: Uras
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D016017:Odds Ratio; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D051059:PTEN Phosphohydrolase; D018719:Erb-b2 Receptor Tyrosine Kinases; C508053:ERBB2 protein, human; C494929:PTEN protein, human