中国北方人群NBN基因外显子SNPs分布及其与乳腺癌的关系  

Association between NBN polymorphisms and breast cancer in north Chinese

作　　者：金鑫[1] 金紫凝[2] 牛亚梅[3] 金峰[2] 佟伟民[3] 

机构地区：[1]海南省公安厅刑警总队,海南海口570203 [2]中国医科大学附属第一医院乳腺外科,辽宁沈阳110001 [3]中国医学科学院基础医学研究所病理学系,北京100005

出　　处：《基础医学与临床》2015年第12期1645-1647,共3页Basic and Clinical Medicine

基　　金：中国医学科学院基础医学研究所所院长基金(2008097);教育部博士点基金(20091106110022)

摘　　要：目的探讨NBN基因与中国北方人群乳腺癌的相关性。方法对188例正常人及205例乳腺癌患者NBN基因的16个外显子进行直接测序。结果在中国北方人群乳腺癌样本中未发现NBN基因突变。对基因频率大于5%的NBN基因SNPs进行分析,发现rs709816(D399D,A>G)的AG基因型较AA基因型发生乳腺癌的风险增加2.34倍,有显著的统计学差异,提示该SNP与乳腺癌的发生相关。结论 NBN基因第10外显子内SNP rs709816(A>G)可能与中国北方人群乳腺癌发生相关。Objective To investigate the relationship between mutations/polymorphisms of NBN and breast cancer in north Chinese. Methods Direct sequencing of PCR product was used to detect the mutation and SNPs of NBN in 205 breast cancers and in 188 normal controls. Results There was no NBN mutation to be found in all breast canc- er patients. Four major NBN polymorphisms were detected, and rs709816 （ D399D, A 〉 G） of italic was signifi- cantly associated with risk of breast cancer. Comparing to rs709816 genotype AA, AG genotype was associated with substantially increased risk of breast cancer in north Chinese （ odd ratio = 2. 34, 95 % confidence interval = 1.34 - 4. 07）. Conclusions Current evidence suggests that the SNP rs709816 （A 〉 G）in italic may contribute to the risk of breast cancer in north Chinese.

关 键 词：DNA修复 NBN 单核苷酸多态性 乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]