Association between single nucleotide polymorphisms of BRCA1-A complex genes and susceptibility of triple-negative breast cancer

凌　泓; 胡　欣

doi:10.19401/j.cnki.1007-3639.2016.11.001

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Association between single nucleotide polymorphisms of BRCA1-A complex genes and susceptibility of triple-negative breast cancer

更新时间：2025-12-31

- Association between single nucleotide polymorphisms of BRCA1-A complex genes and susceptibility of triple-negative breast cancer
- China Oncology Vol. 26, Issue 11, Pages: 881-887(2016)
- 作者机构：
  
  复旦大学附属肿瘤医院乳腺外科，复旦大学上海医学院肿瘤学系,上海,200032
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2016.11.001
  CLC：
- Published Online：22 January 2017，
  
  Published：22 January 2016
- 稿件说明：
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凌　泓,胡　欣. BRCA1相关A蛋白复合物基因单核苷酸多态性与三阴性乳腺癌易感性研究[J]. 中国癌症杂志, 2016, 26(11): 881-887.

凌　泓, 胡　欣. Association between single nucleotide polymorphisms of BRCA1-A complex genes and susceptibility of triple-negative breast cancer[J]. China Oncology, 2016, 26(11): 881-887.
凌　泓,胡　欣. BRCA1相关A蛋白复合物基因单核苷酸多态性与三阴性乳腺癌易感性研究[J]. 中国癌症杂志, 2016, 26(11): 881-887. DOI： 10.19401/j.cnki.1007-3639.2016.11.001.

凌　泓, 胡　欣. Association between single nucleotide polymorphisms of BRCA1-A complex genes and susceptibility of triple-negative breast cancer[J]. China Oncology, 2016, 26(11): 881-887. DOI： 10.19401/j.cnki.1007-3639.2016.11.001.

摘要

背景与目的：BRCA1突变与三阴性乳腺癌发病相关目前已得到学者公认。该研究旨在分析BRCA1相关A蛋白复合物相关基因的单核苷酸多态性(single nucleotide polymorphisms，SNP)与三阴性乳腺癌发病风险的关系，寻找和确定与汉族人群三阴性乳腺癌遗传易感性相关的基因型和单体型。方法：2008年—2011年间414例在复旦大学附属肿瘤医院接受原发性乳腺癌手术的三阴性乳腺癌患者和354例健康妇女进入本病例对照研究。通过对Abraxas、BRE、Rap80、NBA1和BRCC36基因组DNA的37个SNP位点的检测，分析它们与三阴性乳腺癌的相关性。研究者随后检测了652例其他类型乳腺癌和890例健康女性的DNA以证实发现的SNP是否为三阴性特有的遗传相关位点。结果：该研究在第一步研究中发现，NBA1启动子区rs7250266位点突变的G等位基因在三阴性乳腺癌患者中的频率显著低于在正常女性中的频率(0.14 vs 0.19，P0.01)。对rs7250266位点基因分型显示：与携带CC基因型个体比较，携带GC型个体的三阴性乳腺癌的发病风险显著降低(GC∶OR=0.70，95%CI：0.51~0.97；GG∶OR=0.48，95%CI：0.21~1.07，P=0.03)。单体型分析也证实NBA1基因的不同单体型间三阴性乳腺癌发病风险不同。第二步的研究结果显示，rs7250266位点突变在非三阴性的乳腺癌与正常人群中差异无统计学意义(0.19 vs 0.18，P=0.85)。结论：NBA1基因的rs7250266位点的单核苷酸多态性与汉族女性的三阴性乳腺癌发病风险相关，其突变型等位基因携带者罹患三阴性乳腺癌的风险低于野生型等位基因携带者。

Abstract

Background and purpose: The mutation of BRCA1 gene is widely acknowledged to be related to the incidence of triple-negative breast cancer (TNBC). The aim of this study was to investigate the association between TNBC and single nucleotide polymorphisms (SNPs) of BRCA1-associated genes. Methods: This study investigated the associations between the BRCA1-A complex genes and risk of developing TNBC in a case-control study of Chinese Han Women population including 414 patients with TNBC and 354 cancer-free controls diagnosed in the Fudan University Shanghai Cancer Center during 2008-2011. This study also detected 37 common variants in Abraxas

BRE

Rap80

NBA1 and BRCC36 genes encoding the BRCA1-A complex and evaluated their genetic susceptibility to the risk of TNBC. An additional cohort with 652 other types of breast cancer (non-TNBC) cases and 890 controls were used to investigate the associations between TNBC-specific SNPs genotype and non-TNBCs susceptibility. Results: This study found that rs7250266 in the promoter region of NBA1 confers a decreased risk to TNBC (P0.01). Compared with CC genotype

women with the GC genotype (OR=0.70

95%CI: 0.51-0.97) and GG genotype (OR=0.48

95% CI: 0.21-1.07) had a lower risk of developing TNBC (P=0.03). In addition

the haplotypes containing two polymorphisms rs7250266 and rs2278256 were associated with a lower chance of TNBC development. In the second part of the study

the result showed that there was no difference in rs7250266 expression between non-TNBC and normal people (0.19 vs 0.18

P=0.85).Conclusion: Genetic variants in NBA1 may be an important genetic determinant of TNBC susceptibility in Chinese women.

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