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A functional polymorphism in lnc-LAMC2-1:1 confers risk of colorectal cancer by affecting miRNA binding.lnc-LAMC2-1:1中的功能性多态性通过影响miRNA结合赋予结直肠癌风险。
Carcinogenesis. 2016 May;37(5):443-51. doi: 10.1093/carcin/bgw024. Epub 2016 Feb 19.
2
A functional variant at miRNA-122 binding site in IL-1α 3' UTR predicts risk and HPV-positive tumours of oropharyngeal cancer.IL-1α 3'UTR中miRNA-122结合位点的一个功能性变体可预测口咽癌的风险和HPV阳性肿瘤。
Eur J Cancer. 2015 Jul;51(11):1415-23. doi: 10.1016/j.ejca.2015.04.016. Epub 2015 May 14.
3
Germline RAD51B truncating mutation in a family with cutaneous melanoma.一个皮肤黑色素瘤家族中的种系RAD51B截短突变
Fam Cancer. 2015 Jun;14(2):337-40. doi: 10.1007/s10689-015-9781-4.
4
Genome-wide profiling of HPV integration in cervical cancer identifies clustered genomic hot spots and a potential microhomology-mediated integration mechanism.全基因组分析 HPV 整合在宫颈癌中的作用,鉴定出簇状基因组热点和一种潜在的微同源介导的整合机制。
Nat Genet. 2015 Feb;47(2):158-63. doi: 10.1038/ng.3178. Epub 2015 Jan 12.
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Double-strand break repair-adox: Restoration of suppressed double-strand break repair during mitosis induces genomic instability.双链断裂修复-adoX:有丝分裂期间受抑制的双链断裂修复的恢复导致基因组不稳定性。
Cancer Sci. 2014 Dec;105(12):1519-25. doi: 10.1111/cas.12551. Epub 2014 Nov 5.
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Genome-wide association study of HPV-associated cervical cancer in Japanese women.全基因组关联研究发现 HPV 相关宫颈癌与日本女性相关。
J Med Virol. 2014 Jul;86(7):1153-8. doi: 10.1002/jmv.23943. Epub 2014 Apr 4.
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Genetic variants and risk of cervical cancer: epidemiological evidence, meta-analysis and research review.遗传变异与宫颈癌风险:流行病学证据、荟萃分析和研究综述。
BJOG. 2014 May;121(6):664-74. doi: 10.1111/1471-0528.12638. Epub 2014 Feb 19.
8
Germline mutation in the RAD51B gene confers predisposition to breast cancer.RAD51B基因的种系突变会增加患乳腺癌的易感性。
BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484.
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The landscape of viral expression and host gene fusion and adaptation in human cancer.人类癌症中病毒表达和宿主基因融合与适应的全景。
Nat Commun. 2013;4:2513. doi: 10.1038/ncomms3513.
10
A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.全基因组关联研究鉴定出两个新的宫颈癌易感性位点,位于 4q12 和 17q12。
Nat Genet. 2013 Aug;45(8):918-22. doi: 10.1038/ng.2687. Epub 2013 Jun 30.

RAD51B基因微小RNA结合位点内的遗传变异与中国女性宫颈癌风险相关。

Genetic variants within microRNA-binding site of RAD51B are associated with risk of cervical cancer in Chinese women.

作者信息

Hang Dong, Zhou Wen, Jia Meiqun, Wang Lihua, Zhou Jing, Yin Yin, Ma Hongxia, Hu Zhibin, Li Ni, Shen Hongbin

机构信息

Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China.

State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.

出版信息

Cancer Med. 2016 Sep;5(9):2596-601. doi: 10.1002/cam4.797. Epub 2016 Jun 23.

DOI:10.1002/cam4.797
PMID:27334422
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5055154/
Abstract

RAD51B plays a central role in homologous recombinational repair (HRR) of DNA double-strand breaks (DSBs), which is important to prevent genomic instability, a hallmark of cancer. Recent studies suggested that common genetic variants of RAD51B may contribute to cancer susceptibility. In this study, we aimed to investigate whether potentially functional variants within miRNA-binding sites of RAD51B are associated with risk of cervical cancer. A total of 1486 cervical cancer patients and 1536 cancer-free controls were enrolled, and two genetic variants, rs963917 (A > G) and rs963918 (T > C), were genotyped in all participants. Using multivariate logistic regression analyses, we found that G allele of rs963917 conferred lower risk of cervical cancer compared to A allele (adjusted OR = 0.89, 95% CI = 0.80-0.99, P = 0.039). Similarly, rs963918 allele C was associated with a decreased risk for cervical cancer compared with allele T (adjusted OR = 0.84, 95% CI = 0.74-0.94, P = 0.004). Haplotype analyses showed that haplotype GC was also correlated with lower risk (OR = 0.83, 95% CI = 0.73-0.95, P = 0.005) compared with the most common haplotype AT. In summary, our study suggested that miRNA-binding site genetic variants of RAD51B may modify the susceptibility to cervical cancer, which is important to identify individuals with differential risk for this malignancy and to improve the effectiveness of preventive intervention.

摘要

RAD51B在DNA双链断裂(DSB)的同源重组修复(HRR)中起核心作用,这对于预防基因组不稳定(癌症的一个标志)很重要。最近的研究表明,RAD51B的常见基因变异可能与癌症易感性有关。在本研究中,我们旨在调查RAD51B的miRNA结合位点内潜在的功能性变异是否与宫颈癌风险相关。共纳入了1486例宫颈癌患者和1536例无癌对照,并对所有参与者的两个基因变异rs963917(A>G)和rs963918(T>C)进行基因分型。使用多因素逻辑回归分析,我们发现rs963917的G等位基因与A等位基因相比,宫颈癌风险较低(校正OR=0.89,95%CI=0.80-0.99,P=0.039)。同样,与T等位基因相比,rs963918的C等位基因与宫颈癌风险降低相关(校正OR=0.84,95%CI=0.74-0.94,P=0.004)。单倍型分析表明,与最常见的单倍型AT相比,单倍型GC也与较低风险相关(OR=0.83,95%CI=0.73-0.95,P=0.005)。总之,我们的研究表明,RAD51B的miRNA结合位点基因变异可能会改变宫颈癌的易感性,这对于识别该恶性肿瘤风险不同的个体以及提高预防干预的有效性很重要。