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评估血清巢蛋白和HOTAIR rs12826786 C>T多态性作为埃及女性乳腺癌筛查工具的研究。

Evaluation of serum Nestin and HOTAIR rs12826786 C>T polymorphism as screening tools for breast cancer in Egyptian women.

作者信息

Aglan Sarah A, Elsammak Mohamed, Elsammak Omar, El-Bakoury Eman A, Elsheredy Heba G, Ahmed Yasser S, Sultan Mohamed H, Awad Ahmed M

机构信息

Alexandria University, Medical Research Institute, Department of Chemical Pathology, Egypt.

Alexandria University, Faculty of Medicine, Egypt.

出版信息

J Med Biochem. 2021 Jan 26;40(1):17-25. doi: 10.5937/jomb0-25295.

DOI:10.5937/jomb0-25295
PMID:33584136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7857851/
Abstract

BACKGROUND

Nestin is a neural stem cell protein that plays an important role in cancer stem cells (CSC) development and proliferation. It has been identified as a marker for newly formed endothelial cells and was shown to be preferentially expressed in basal and myoepithelial cells of the mammary gland. is long intergenic non-coding (linRNA) associated with tumorigenesis through promotion of epithelial-mesenchymal transition (EMT) and stemness as well. gene contains a functioning single nucleotide polymorphic site rs12826786 C>T that has been associated with several cancer types.

METHODS

We evaluated serum Nestin and the rs12826786 C>T polymorphism in healthy Egyptian women and those with breast cancer as a possible screening tool to identify patients with breast cancer. Also, we tested the possible association of the two markers with each other and the aggressiveness of the disease.

RESULTS

Patients with breast cancer had a median (Min-Max) of serum Nestin 31.3 (6.7-167.3 pg/mL), while control subjects had a median (Min-Max) of serum Nestin 42.3 (25.7-315.95) pg/mL. The best cut-off value for serum Nestin to differentiate normal subjects and patients with breast cancer was 39.9 pg/mL. This cut-off value had a diagnostic sensitivity of 84.8% and specificity of 65.1%. There was a significant difference in the distribution of different alleles in patients with breast cancer than normal subjects (P=0.039 Exact Fisher test). The breast cancer patients group had 23.9% CC, 52.1% CT, and 23.9% TT genotypes, respectively, while the control group had 46.9% CC, 42.8% CT, and 10.2% TT, respectively.

CONCLUSIONS

A significantly low serum Nestin below 39.9 pg/mL and a higher percentage of the T/T homozygous variant allele of rs12826786 C>T were found in Egyptian patients with breast cancer. We suggest that the reported cut-off value of serum Nestin and the presence of C/T polymorphism can be used to assess the risk of females for developing breast cancer and might be of potential benefit in screening the disease. Larger studies in different ethnic groups are needed to confirm our findings.

摘要

背景

巢蛋白是一种神经干细胞蛋白,在癌症干细胞(CSC)的发育和增殖中起重要作用。它已被确定为新形成的内皮细胞的标志物,并被证明在乳腺的基底细胞和肌上皮细胞中优先表达。是一种长链基因间非编码(linRNA),也通过促进上皮-间质转化(EMT)和干性与肿瘤发生相关。该基因包含一个功能性单核苷酸多态性位点rs12826786 C>T,它与多种癌症类型有关。

方法

我们评估了健康埃及女性和乳腺癌患者血清中的巢蛋白以及rs12826786 C>T多态性,将其作为识别乳腺癌患者的一种可能的筛查工具。此外,我们测试了这两种标志物之间可能的关联以及疾病的侵袭性。

结果

乳腺癌患者血清巢蛋白的中位数(最小值-最大值)为31.3(6.7-167.3 pg/mL),而对照组血清巢蛋白的中位数(最小值-最大值)为42.3(25.7-315.95)pg/mL。区分正常受试者和乳腺癌患者的血清巢蛋白最佳临界值为39.9 pg/mL。该临界值的诊断敏感性为84.8%,特异性为65.1%。乳腺癌患者与正常受试者不同等位基因的分布存在显著差异(精确费舍尔检验,P=0.039)。乳腺癌患者组的基因型分别为23.9% CC、52.1% CT和23.9% TT,而对照组分别为46.9% CC、42.8% CT和10.2% TT。

结论

在埃及乳腺癌患者中发现血清巢蛋白显著低于39.9 pg/mL,且rs12826786 C>T的T/T纯合变异等位基因比例更高。我们建议,所报道的血清巢蛋白临界值和C/T多态性的存在可用于评估女性患乳腺癌的风险,可能对该疾病的筛查有潜在益处。需要在不同种族群体中进行更大规模的研究来证实我们的发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ae4/7857851/4445cfe7cc02/jomb-40-1-2101017A-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ae4/7857851/fe7578ad34dd/jomb-40-1-2101017A-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ae4/7857851/ca5c454fa22c/jomb-40-1-2101017A-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ae4/7857851/4445cfe7cc02/jomb-40-1-2101017A-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ae4/7857851/fe7578ad34dd/jomb-40-1-2101017A-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ae4/7857851/ca5c454fa22c/jomb-40-1-2101017A-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ae4/7857851/4445cfe7cc02/jomb-40-1-2101017A-g003.jpg

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