PDF(Pubmed)
Abstract：
OBJECTIVE: The aim of this study was to elucidate the association of ATP-binding cassette super-family G member 2 (ABCG2) gene polymorphisms with individual susceptibility to Triple Negative Breast Cancer (TNBC) as well as clinicopathological variables in TNBC patients. Two common polymorphisms in Asian population, ABCG2 34 G>A and 421 C>A was selected in this study.
METHODS: Blood samples were collected from 75 TNBC patients and 83 controls. Genomic DNA was extracted from blood samples and the SNP genotyping was performed by using PCR-RFLP technique. The genotypes were characterized and grouped into homozygous wildtype, heterozygote and homozygous variant based on the band size. The result was subjected to statistical analysis.
RESULTS: The A allele and AA genotype of ABCG2 421 C>A had OR of 3.011 (p=0.003, 95% CI: 1.417-6.398) and 9.042 (p=0.011, 95% CI: 1.640-49.837), to develop advanced staging carcinoma respectively. The AA genotype of ABCG2 421 C>A polymorphism was also associated with metaplastic and medullary carcinoma with an OR of 6.429 (p=0.018, 95% CI: 1.373-30.109). A significant association was also found in haplotype 34G/421A of ABCG2 with advanced cancer staging as well as metaplastic and medullary carcinoma with OR of 2.347 (p=0.032, 95% CI: 1.010-5.560) and 2.546 (p=0.008, 95% CI: 1.005-6.447), respectively. Conclusion: The present study suggests that ABCG2 421 C>A polymorphism was associated with metaplastic and medullary histology and advanced cancer staging in TNBC patients.
METHODS: Blood samples were collected from 75 TNBC patients and 83 controls. Genomic DNA was extracted from blood samples and the SNP genotyping was performed by using PCR-RFLP technique. The genotypes were characterized and grouped into homozygous wildtype, heterozygote and homozygous variant based on the band size. The result was subjected to statistical analysis.
RESULTS: The A allele and AA genotype of ABCG2 421 C>A had OR of 3.011 (p=0.003, 95% CI: 1.417-6.398) and 9.042 (p=0.011, 95% CI: 1.640-49.837), to develop advanced staging carcinoma respectively. The AA genotype of ABCG2 421 C>A polymorphism was also associated with metaplastic and medullary carcinoma with an OR of 6.429 (p=0.018, 95% CI: 1.373-30.109). A significant association was also found in haplotype 34G/421A of ABCG2 with advanced cancer staging as well as metaplastic and medullary carcinoma with OR of 2.347 (p=0.032, 95% CI: 1.010-5.560) and 2.546 (p=0.008, 95% CI: 1.005-6.447), respectively. Conclusion: The present study suggests that ABCG2 421 C>A polymorphism was associated with metaplastic and medullary histology and advanced cancer staging in TNBC patients.
摘要：
目的：本研究的目的是阐明ATP结合盒超家族G成员2(ABCG2)基因多态性与三阴性乳腺癌(TNBC)个体易感性以及TNBC患者临床病理因素的关系。亚洲人群中两种常见的多态性，本研究选择ABCG234G>A和421C>A。
方法：从75名TNBC患者和83名对照者收集血样。从血液样品中提取基因组DNA，并使用PCR-RFLP技术进行SNP基因分型。对基因型进行表征并分组为纯合野生型，基于条带大小的杂合子和纯合变体。对结果进行统计分析。
结果：ABCG2421C>A的A等位基因和AA基因型的OR为3.011（p=0.003，95％CI：1.417-6.398）和9.042（p=0.011，95％CI：1.640-49.837），分别发展为晚期癌症。ABCG2421C>A多态性的AA基因型也与化生和髓样癌相关，OR为6.429（p=0.018，95％CI：1.373-30.109）。在ABCG2的单倍型34G/421A与晚期癌症分期以及化生和髓样癌的OR为2.347（p=0.032，95％CI：1.010-5.560）和2.546（p=0.008，95％CI：1.005-6.447）中也发现了显着关联。分别。结论：本研究表明ABCG2421C>A多态性与TNBC患者的化生和髓质组织学以及晚期癌症分期有关。
方法：从75名TNBC患者和83名对照者收集血样。从血液样品中提取基因组DNA，并使用PCR-RFLP技术进行SNP基因分型。对基因型进行表征并分组为纯合野生型，基于条带大小的杂合子和纯合变体。对结果进行统计分析。
结果：ABCG2421C>A的A等位基因和AA基因型的OR为3.011（p=0.003，95％CI：1.417-6.398）和9.042（p=0.011，95％CI：1.640-49.837），分别发展为晚期癌症。ABCG2421C>A多态性的AA基因型也与化生和髓样癌相关，OR为6.429（p=0.018，95％CI：1.373-30.109）。在ABCG2的单倍型34G/421A与晚期癌症分期以及化生和髓样癌的OR为2.347（p=0.032，95％CI：1.010-5.560）和2.546（p=0.008，95％CI：1.005-6.447）中也发现了显着关联。分别。结论：本研究表明ABCG2421C>A多态性与TNBC患者的化生和髓质组织学以及晚期癌症分期有关。
