新疆ABCG2基因多态性与乳腺癌复发的相关性研究

Association between ABCG2 gene polymorphism and breast cancer recurrence in Xinjiang

背景与目的:复发转移是影响乳腺癌患者生存预后的关键因素,其涉及的病理学机制复杂,临床上尚未开发出早期监测的生物学标志物。探讨三磷酸腺苷结合盒家族G2(adenosine triphosphate-binding cassette family G2,ABCG2)基因多态性与新疆地区乳腺癌患者辅助化疗2年后复发的相关性,分析其作为乳腺癌复发标志物的可能性。方法:收集2014年12月-2015年12月于新疆医科大学第三临床医学院接受手术治疗后2年内复发的乳腺癌患者150例,同期收集手术后2年内未出现复发的患者162例作为对照。收集临床资料,并检测rs2032582、rs1045642、rs2231137和rs2231142位点的多态性,比较4个位点与乳腺癌2年内复发的相关性。结果:两组患者在年龄、淋巴结转移个数、雌激素受体(estrogen receptor,ER)(+)、孕激素受体(progesterone receptor,PR)(+)、组织学分级中存在差异;rs2032582在两组之间表达存在差异,rs2032582 GG型在复发组中表达显著高于其他突变类型(P<0.05)。2年复发组中rs2032582位点G/T等位基因组的年龄显著高于A等位基因组(P<0.01),而A等位基因组的肿块大小、淋巴结转移个数和ER(+)显著高于G/T等位基因组(P<0.05)。结论:rs2032582位点可能与乳腺癌治疗2年后复发相关,rs2032582 GG基因型是乳腺癌复发的危险因素,ABCG2可作为早期监测乳腺癌复发的标志基因。

Background and purpose: Recurrence and metastasis are the key factors affecting the survival prognosis of breast cancer patients. The pathological mechanisms involved in recurrence and metastasis of breast cancer are complex, and biological markers for early monitoring have not been developed clinically. This study aimed to investigate the correlation between polymorphisms of adenosine triphosphate-binding cassette family G2(ABCG2) gene and recurrence of breast cancer in Xinjiang Uygur Autonomous Region after 2 years of adjuvant chemotherapy, and explore its possibility as a marker of breast cancer recurrence. Methods: We collected the data of 150 patients with recurrence within 2 years following surgery from Dec. 2014 to Dec. 2015 at the Third Clinical Medical College of Xinjiang Medical University. Meanwhile, data of 162 patients without relapse within 2 years were collected as the control. The clinical information was collected, and the polymorphisms at four sites of rs2032582, rs1045642, rs2231137 and rs2231142 were detected. The correlation between the four sites and recurrence of breast cancer within 2 years was compared. Results: There was difference in age, number of lymph node metastasis, estrogen receptor(ER)(+), progesterone receptor(PR)(+) and the histological grading between the two groups. The difference in rs2032582 expression was observed between the two groups, and the expression of rs2032582 GG type mutation in recurrent group was obviously higher than that of other type. The patient with the rs2032582 locus G/T allele was significantly older in the 2-year recurrence group compared with the A allele group(P<0.01), while the A allele group had significantly higher tumor size, number of lymph node metastasis and ER(+) compared with G/T allele group(P<0.05). Conclusion: rs2032582 GG type was associated with breast cancer recurrence in the first two years after surgery. ABCG2 could be a marker gene for early detection of breast cancer recurrence.