The study single nucleotide polymorphisms ABC-transporter genes in breast cancer: correlation with expression

Our previous research establishes that changes of expression of the ATP-binding cassette genes family ( ABCB1 , ABCB3 , ABCC1 , ABCC2 , ABCC5 , ABCG1 , ABCG2 ) is connected with the neoadjuvant chemotherapy effect. However, the mechanism of regulation of resistance gene expression remains unclear. As many researchers believe, single nucleotide polymorphisms can be involved in this process. Materials and methods. Thereupon, microarray analysis is used to study polymorphisms in ATP-binding cassette genes. The study group 84 patients with breast cancer. The test material as tumor biopsy samples were used to treat and operation after chemotherapy. The evaluation of genes expression was performed by real time PCR. Results. Total 195 single nucleotide polymorphisms 7 gene family of ABC-transporters have been analyzed. It is thus found that MDR gene expression is connected with 8 polymorphisms, i.e. ABCB1 rs2235035 , ABCB3 rs241430 , ABCB3 rs241429 , ABCC1 rs17205838 , ABCC1 rs35596 , ABCC2 rs4919395 , ABCC2 rs2756103 and ABCG2 rs59409230 which participate in the regulation of expression of own genes. Conclusions. Therefore, this work shows that the majority of mutations and polymorphisms of ABC genes have a substantial impact on the ATP-binding cassette transporter regulation, it can give more information about the mechanisms of ABC regulation of gene expression and the formation of chemoresistance.

рак молочной железы, микроматричные исследования, однонуклеотидные полиморфизмы, семейство генов ABC-транспортеров, неоадъювантная химиотерапия, breast cancer, microarray, single nucleotide polymorphisms, ATP-binding cassette genes family, neoadjuvant chemotherapy

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