Wu Huizhe, Liu Yong, Kang Hui, Xiao Qinghuan, Yao Weifan, Zhao Haishan, Wang Enhua, Wei Minjie
Department of Pharmacology, School of Pharmacy, China Medical University, Shenyang, Liaoning 110122, China.
Department of Clinical Laboratory, Shengjing Hospital of China Medical University, Heping Ward, Shenyang, Liaoning 110003, China.
Biomed Res Int. 2015;2015:279109. doi: 10.1155/2015/279109. Epub 2015 Nov 8.
The genetic variants of the ATP-binding cassette, subfamily G, member 2 (ABCG2) are known to be involved in developing cancer risk and interindividual differences in chemotherapeutic response. The polymorphisms in ABCG2 gene were genotyped by using PCR-RFLP assays. We found that ABCG2 G34A GA/AA genotype, C421A AA genotype, and haplotypes 34A-421C and 34G-421A were significantly associated with increased risk for developing breast carcinoma. Furthermore, ABCG2 C421A AA homozygote had a significant enhanced therapeutic response in patients with neoadjuvant anthracycline-based chemotherapy. Moreover, ABCG2 G34A AA genotype carriers displayed a longer OS in ER positive patients or PR positive patients after postoperative anthracycline-based chemotherapy. These results suggested that the ABCG2 polymorphisms might be a candidate pharmacogenomic factor to assess susceptibility and prognosis for breast carcinoma patients.
已知ATP结合盒亚家族G成员2（ABCG2）的基因变异与癌症发生风险及化疗反应的个体差异有关。采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）对ABCG2基因的多态性进行基因分型。我们发现ABCG2 G34A GA/AA基因型、C421A AA基因型以及单倍型34A-421C和34G-421A与乳腺癌发病风险增加显著相关。此外，ABCG2 C421A AA纯合子在接受新辅助蒽环类化疗的患者中具有显著增强的治疗反应。而且，ABCG2 G34A AA基因型携带者在术后接受蒽环类化疗后，雌激素受体（ER）阳性或孕激素受体（PR）阳性患者的总生存期更长。这些结果表明，ABCG2多态性可能是评估乳腺癌患者易感性和预后的候选药物基因组学因素。
