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Farnebo, L., Jedlinski, A., Ansell, A., Vainikka, L., Thunell, L.K., Grénman, R., Johansson, A.C. and Roberg, K. (2009) Proteins and single nucleotide polymorphisms involved in apoptosis,growth control, and DNA repair predict cisplatin sensitivity in head and neck cancer cell lines. International Journal of Molecular Medicine, 24, 549-556.

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• TITLE: Bax promoter G(－248)A polymorphism in a Turkish clinical breast cancer patients: A case-control study

  AUTHORS: Yemliha Yildiz, Ilhan Yaylim, Nazli Ezgi Ozkan, Soykan Arikan, Saime Turan, Seden Kucucuk, Ender Coskunpinar, Turgay Isbir

  KEYWORDS: Bcl-2 Associated-X-Protein; SNP; Apoptosis; PCR; Susceptibility; Carcinogenesis

  JOURNAL NAME: American Journal of Molecular Biology, Vol.3 No.1, January 23, 2013

  ABSTRACT: Bax is an important protein involved in apoptotic process. Mutations of the Bax gene are known to af- fect protein expression and function. A promotor polymorphism G(－248)A in the 5’UTR of Bax gene may alter regulation of apoptosis in carcinogenesis. Our study was performed to test the association be- tween G(－248)A polymorphisms in the Bax gene and breast cancer risk and progression. G(－248)A poly- morphism was genotyped in a Turkish breast cancer, case-control population including 53 female cancer patients (mean age ± SD: 60.9 ± 11.9 years) and 82 controls (mean age ± SD: 57.2 ± 17.5 years) using PCR-RFLP analysis. Genotype and allele frequencies were assessed with the chi-square test. There was no difference in the distribution of Bax genotypes, and allele frequencies were G (87.7% versus 88.4%) and A (12.3% versus 11.6%) in the cancer patients and controls, respectively. Within the cancer group, the presence of a polymorphic Bax G(－248)A allele was not associated with clinico-pathological parameters such as advanced tumor stage, lymph node or distant metastasis. We present the first to report on Bax G(－248)A polymorphisms in breast cancer. Our re- sults suggest that Bax G(－248)A polymorphism do not modify individual susceptibility to invasive breast cancer in Turkish women.