ABSTRACT
Amplification and/or overexpression of HER-2/neu has been reported to be associated with poor prognosis in breast cancer. One single-nucleotide polymorphism at codon 655 indicates a guanine-to-adenine substitution (Ile655Val) in the transmembrane domain-coding region of the HER-2/neu gene reported to be associated with increased risk of breast cancer. However, several studies have shown that this association is controversial. In this study, we aimed to evaluate the association between HER-2 codon 655 polymorphisms and breast cancer risk in breast cancer patients. We analyzed the HER-2 codon 655 polymorphisms in paraffin block sections from 58 breast cancer patients and 55 control subjects and evaluated the association of the polymorphic alleles with breast cancer. Following DNA isolation, polymerase chain reaction-restriction fragment length polymorphism analysis was carried out. The polymorphic Val allele was detected in 12.1% of the patients and in 17.3% of the control subjects. When the results of the study were evaluated, no statistically significant correlation was found between HER-2/neu codon 655 polymorphism and breast cancer.
Subject(s)
Breast Neoplasms/genetics , Codon/genetics , Genes, erbB-2/genetics , Polymorphism, Genetic , Receptor, ErbB-2/genetics , Adult , Breast Neoplasms/pathology , Case-Control Studies , Female , Genotype , Humans , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Risk FactorsABSTRACT
Bronchopulmonary dysplasia (BPD) is a multifactorial disease of preterm infants that is characterized by airway injury, inflammation, and parenchymal remodeling. Extravascular fibrin deposits in septae and alveoli due to the altered fibrin turnover are the pathological hallmarks of BPD that strongly indicates the importance of the imbalance in the competing activities of coagulation and fibrinolysis. Activation of the coagulation cascade leads to intraalveolar fibrin deposition in many inflammatory pulmonary disorders. Increased fibrin formation or decreased fibrinolysis may cause extravascular fibrin deposition. We evaluated the association between FXIII-Val34Leu, FVII-323 del/ins, and transforming growth factor beta1 (TGF-beta(1)) (915G/T) gene polymorphisms in patients with BPD. The study group consisted of 98 preterm infants with BPD. Ninety-four of the 192 preterm neonates were without BPD and sampled for the control group. Restriction fragment size analyses were performed by examining digested PCR products for FXIII-Val34Leu, FVII-323 del/ins, and TGF-beta(1) (915G/C) genotypes. No significant associations were found between FXIII-Val34Leu, FVII-323 del/ins, TGF-beta(1) (915G/C) gene polymorphisms and BPD phenotype in our population. Further studies with other genes are required for the identification of molecular predisposing factors for BPD that may help in the development of new treatments and hence might allow for targeting of this treatment to a "high-risk" subgroup, reducing unnecessary exposure to potentially harmful therapies.
