Abraxas c.1082G>A突变与中国散发性乳腺癌易感相关性研究  

Investigation of Abraxas c.1082G>A mutation with unselected breast cancer patients from China

作　　者：孙士鹏[1] 高磊[1] 朱瑞丽[1,2] 潘宗岱[1] 刘贵建[1] 

机构地区：[1]中国中医科学院广安门医院检验科,北京100053 [2]北京中医药大学东直门医院,北京100700

出　　处：《分子诊断与治疗杂志》2012年第4期233-235,共3页Journal of Molecular Diagnostics and Therapy

基　　金：中国中医科学院广安门医院所级课题(2011S244)

摘　　要：目的通过对中国乳腺癌患者Abraxasc.1082G>A点突变的检测,初步研究此突变基因在我国乳腺癌患者中的发生情况,探讨Abraxas c.1082G>A突变与乳腺癌患者易感性的关系。方法利用PCR和DNA测序法对129例散发性乳腺癌患者的Abraxas c.1082G>A突变进行检测。结果所有乳腺癌患者Abraxas基因均为野生型,没有检测到Abraxas c.1082G>A突变。结论本研究通过对129例散发性乳腺癌患者的基因检测,未发现Abraxas c.1082G>A点突变基因型,这提示此点突变可能在中国散发性乳腺癌患者中的发生率很低。该结论有待于今后在大规模样本中进行验证,从而为Abraxas基因突变与肿瘤风险评估和临床诊断提供更可靠的数据。Objectives To investigate the prevalence of Abraxas c.1082G〉A mutation in unselected breast cancer patients from China and to explore the association between Abraxas c.1082G〉A mutation and breast cancer susceptibility. Methods 129 unselected breast cancer patients from China were screened for Abraxas c. 1082G〉A mutation by PCR assay and DNA sequencing method. Results None of the Abraxas c.1082G〉A mutation was identified in 129 breast cancer patients. Conclusion Abraxas Arg361Gln mutation may be rarely distributed in unselected breast cancer patients. A larger cohort population study is needed for fiLrther investigation to provide more accurate and unbiased evidence for risk associated with breast cancer and evaluation of the potential use of Abraxas mutation testing in clinical diagnosis.

关 键 词：Abraxas 易感基因 乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]