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Addeo, R., Crisci, S., D’Angelo, V., Vincenzi, B., Casale, F., Pettinato, G., Donofrio, V., Boldrini, R., Alaggio, R., Collini, P., Bertorelle, R., Di Tullio, M.T., Caraglia, M., Terenziani, M., Lo Curto, M. and Indolfi, P. (2007) Bax mutation and overexpression inversely correlate with immature phenotype and prognosis of childhood germ cell tumors. Oncology Reports, 17, 1155-1161.

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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.