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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.

biomed research international

Genetic Variations in<i>ABCG2</i>Gene Predict Breast Carcinoma Susceptibility and Clinical Outcomes after Treatment with Anthracycline-Based Chemotherapy

Genetic Variations inABCG2Gene Predict Breast Carcinoma Susceptibility and Clinical Outcomes after Treatment with Anthracycline-Based Chemotherapy