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Expression of the BRCA1-interacting protein Brip1/BACH1/FANCJ is driven by E2F and correlates with human breast cancer malignancy.与BRCA1相互作用的蛋白Brip1/BACH1/FANCJ的表达由E2F驱动，并与人类乳腺癌恶性程度相关。
Oncogene. 2008 Jul 10;27(30):4233-41. doi: 10.1038/onc.2008.51. Epub 2008 Mar 17.
2
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Cancer Res. 2007 Oct 15;67(20):9609-12. doi: 10.1158/0008-5472.CAN-07-2377.
3
Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer.标记 BRIP1 基因中的单核苷酸多态性与乳腺癌和卵巢癌的易感性。
PLoS One. 2007 Mar 7;2(3):e268. doi: 10.1371/journal.pone.0000268.
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Role of single nucleotide polymorphisms and haplotypes in BRCA1 in breast cancer: Czech case-control study.单核苷酸多态性和单倍型在乳腺癌BRCA1基因中的作用：捷克病例对照研究。
Breast Cancer Res Treat. 2007 Jun;103(2):219-24. doi: 10.1007/s10549-006-9367-9. Epub 2006 Oct 13.
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Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis.乳腺癌1号关联环指结构域（BARD1）基因常见的非同义多态性与乳腺癌易感性相关：一项病例对照分析。
Breast Cancer Res Treat. 2007 May;102(3):329-37. doi: 10.1007/s10549-006-9332-7. Epub 2006 Sep 21.
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Candidate single nucleotide polymorphism selection using publicly available tools: a guide for epidemiologists.使用公开可用工具选择候选单核苷酸多态性：流行病学家指南
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7
Removal of BRCA1/CtIP/ZBRK1 repressor complex on ANG1 promoter leads to accelerated mammary tumor growth contributed by prominent vasculature.去除ANG1启动子上的BRCA1/CtIP/ZBRK1抑制复合物会导致显著的血管生成促进乳腺肿瘤加速生长。
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SNP-SNP interactions in breast cancer susceptibility.乳腺癌易感性中的单核苷酸多态性-单核苷酸多态性相互作用
BMC Cancer. 2006 May 3;6:114. doi: 10.1186/1471-2407-6-114.
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BRCA1: cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution.乳腺癌1号基因（BRCA1）：细胞周期检查点、基因不稳定、DNA损伤反应与癌症演变
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10
Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses.DNA双链断裂修复基因多态性与乳腺癌风险：美国和波兰的两项基于人群的研究及荟萃分析。
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BRCA1基因、与BRCA1相互作用的基因中的多态性与中国女性乳腺癌易感性

Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women.

作者信息

Huo Xiang, Lu Cheng, Huang Xinen, Hu Zhibin, Jin Guangfu, Ma Hongxia, Wang Xuechen, Qin Jianwei, Wang Xinru, Shen Hongbing, Tang Jinhai

机构信息

Laboratory of Reproductive Medicine, Cancer Center of Nanjing Medical University, Nanjing 210029, China.

出版信息

J Cancer Res Clin Oncol. 2009 Nov;135(11):1569-75. doi: 10.1007/s00432-009-0604-6. Epub 2009 May 31.

DOI:10.1007/s00432-009-0604-6
PMID:19484476
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12160274/
Abstract

PURPOSE

BRCA1-interacting protein C-terminal helicase 1 (BRIP1) and zinc finger protein 350 (ZNF350) work with BRCA1 in tumor suppression procedures. Low penetrance variants of these three genes may jointly affect individuals' breast cancer susceptibility in general population.

METHODS

We focused on potentially functional single nucleotide polymorphisms (SNPs) in the coding regions of BRIP1, ZNF350 and BRCA1 and pairwise-tagging approach was used to minimize the number of SNPs. Five SNPs were selected and genotyped by PCR-restriction fraction length polymorphism or PCR-primer introduced restriction analysis assays in a case-control study with 568 breast cancer cases and 624 controls in a Chinese population.

RESULTS

All of the five SNPs except rs2278415 of ZNF350 conferred a modestly increased risk, although, with no statistical significance. Joint effect analyses indicated that all the variant genotypes of ZNF350 polymorphisms accounted for increased breast cancer risk among subjects carrying variant homozygote of BRCA1 rs799917, particularly for ZNF350 rs4986773 (OR = 2.03, 95%CI = 1.02-4.05, the test for gene-gene interaction P (int) = 0.059).

CONCLUSION

BRCA1 and ZNF350 may jointly contribute to individuals' susceptibility of breast cancer in Chinese women. Further functional studies are warranted to validate our findings.

摘要

目的

BRCA1相互作用蛋白C末端解旋酶1（BRIP1）和锌指蛋白350（ZNF350）在肿瘤抑制过程中与BRCA1协同作用。这三个基因的低外显率变异可能共同影响普通人群个体的乳腺癌易感性。

方法

我们聚焦于BRIP1、ZNF350和BRCA1编码区潜在的功能性单核苷酸多态性（SNP），并采用成对标签法尽量减少SNP数量。在一项针对中国人群的568例乳腺癌病例和624例对照的病例对照研究中，选择了5个SNP，通过聚合酶链反应-限制性片段长度多态性或聚合酶链反应-引物引入限制性分析方法进行基因分型。

结果

除ZNF350的rs2278415外，所有5个SNP均使风险略有增加，尽管无统计学意义。联合效应分析表明，ZNF350多态性的所有变异基因型在携带BRCA1 rs799917变异纯合子的受试者中增加了乳腺癌风险，特别是对于ZNF350 rs4986773（比值比=2.03，95%可信区间=1.02-4.05，基因-基因相互作用检验P（int）=0.059）。

结论

BRCA1和ZNF350可能共同影响中国女性个体的乳腺癌易感性。需要进一步的功能研究来验证我们的发现。