Genetic variation in a hsa-let-7 binding site in RAD52 is associated with breast cancer susceptibility

Jiang, Yue; Qin, Zhenzhen; Hu, Zhibin; Guan, Xiaoxiang; Wang, Yanru; He, Yunjie; Xue, Jialei; Liu, Xiao'an; Chen, Jiaping; Dai, Juncheng; Jin, Guangfu; Ma, Hongxia; Wang, Shui; Shen, Hongbing

doi:10.1093/carcin/bgs373

Cited by 40 publications

(24 citation statements)

References 46 publications

(41 reference statements)

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“…Such a scenario has been described for BRIP1. SNPs in the 3'-UTR of BRIP1 have been shown to influence mRNA stability and regulate gene expression (Jiang et al, 2013). As a result, these SNPs may affect genetic susceptibility to breast cancer.…”

Section: Discussionmentioning

confidence: 99%

Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility

Ren¹,

Xian²,

Diao³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. BRCA1-interacting protein C-terminal helicase 1 (BRIP1) is a DNA helicase that influences the DNA repair ability and tumor suppressor function of BRCA1. Truncating BRIP1 mutations have been described as cancer susceptibility alleles. To evaluate BRIP1 polymorphisms as risk factors for breast cancer, we performed a detailed analysis of possible single nucleotide polymorphisms (rs2048718, rs4988344, rs8077088, rs6504074, rs4986764, rs4986763, rs11079454, rs7213430, rs34289250, rs4988345, and rs12937080) using the MassARRAY system. A total of 319 patients with breast cancer and 306 healthy control females from the Chinese Han population enrolled in the study. A weak association was found between the rs4986764 allele (exon 18) and breast cancer. The frequency of the rs4986764 C allele was significantly higher in breast cancer patients than in healthy controls [c 2 = 4.089, P = 0.043, odds ratio (OR) = 0.781, 95% confidence interval (CI) = 0.614-0.992]. Additionally, our study is the first to identify a significant association between rs7213430 and breast cancer. Compared to healthy controls, patients with breast cancer had a higher frequency of the rs7213430 A allele (c 2 = 8.865, P = 0.003, OR = 0.700, 95%CI = 0.553-0.886). Furthermore, linkage disequilibrium was observed in two blocks (D' > 0.9). While significantly more T-A-C haplotypes (P = 0.001, block 1) were found in breast cancer patients, the frequency of T-T haplotypes (P = 0.008, block 2) was significantly higher in healthy controls. The possible association among rs4986764, rs7213430, and breast cancer risk merits further validation in an independent case-control study.

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Section: Discussionmentioning

confidence: 99%

Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility

Ren¹,

Xian²,

Diao³

et al. 2013

Genet. Mol. Res.

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“…Many studies have shown that single nucleotide polymorphisms (SNPs) related to miRNAs may either create or disturb miRNA target interactions, and induce diverse functional consequences1920212223. Thus, in this study, we performed the genotyping of several potentially functional SNPs in let-7 and Lin28 and assessed their associations with risk of oral cavity cancer in an ongoing hospital-based case-control study of 384 cases and 731 cancer-free controls in a Chinese Han population.…”

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confidence: 99%

Genetic variants in let-7/Lin28 modulate the risk of oral cavity cancer in a Chinese Han Population

Zhu

Wang

et al. 2014

Sci Rep

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Let-7 and Lin28 establish a double-negative feedback loop to affect several biological processes, such as differentiation of stem cell, invasion and metastasis, and tumorigenesis. In this study, we systematically investigated the associations between 6 potentially functional SNPs of let7 and Lin28 genes and the risk of oral cavity cancer with a case-control study including 384 oral cavity cancer cases and 731 controls. We found that the variant allele (T) of rs221636 of Lin28B was significantly associated with a reduced risk of oral cavity cancer [odds ratio (OR) = 0.73, 95% confidence interval (CI) = 0.58–0.92, P = 7.55 × 10−3 in additive model]. Bioinformatics prediction indicated that rs221636 was located at the binding site of hsa-miR-548p in the 3′ UTR of Lin28B. Luciferase activity assay also showed a lower expression level for rs221636 T allele compared with A allele. These findings indicated that rs221236 located at Lin28B may contribute to the risk of oral cavity cancer through the interruption of miRNA binding.

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“…In 2008, Brendle et al indicated that there is a highly-strong association between the A allele of rs743554, within ITGB4 3 0 UTR, and the increased risk of ER-negative breast cancer [39]. Moreover, the homozygote (C/C) and heterozygote (A/C) genotypes of rs4245739 in MDM4 3 0 UTR, as well as the rs7963551 C allele in RAD52 3 0 UTR have been displayed to be associated with reduced breast cancer risk [40,41]. The single study analyzing an ErbB4 miRNA-related SNP in breast cancer showed that rs1595066 is associated with the decreased risk of breast cancer [19].…”

Section: Discussionmentioning

confidence: 99%

rs11895168 C allele and the increased risk of breast cancer in Isfahan population

et al. 2016

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Genetic variation in a hsa-let-7 binding site in RAD52 is associated with breast cancer susceptibility

Cited by 40 publications

References 46 publications

Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility

Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility

Genetic variants in let-7/Lin28 modulate the risk of oral cavity cancer in a Chinese Han Population

rs11895168 C allele and the increased risk of breast cancer in Isfahan population

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