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. HOTAIR is long intergenic non-coding (linRNA) associated with tumorigenesis through promotion of epithelial-mesenchymal transition (EMT) and stemness as well. HOTAIR 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 HOTAIR 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 HOTAIR 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.

中文翻译：

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血清 Nestin 和 HOTAIR rs12826786 C>T 多态性作为埃及女性乳腺癌筛查工具的评估。


背景巢蛋白是一种神经干细胞蛋白，在癌症干细胞（CSC）的发育和增殖中发挥重要作用。它已被确定为新形成的内皮细胞的标记物，并显示优先在乳腺的基底细胞和肌上皮细胞中表达。 HOTAIR 是长基因间非编码 (linRNA)，通过促进上皮间质转化 (EMT) 和干性与肿瘤发生相关。 HOTAIR 基因包含一个功能性单核苷酸多态性位点 rs12826786 C>T，该位点与多种癌症类型相关。方法 我们评估了健康埃及女性和乳腺癌患者的血清 Nestin 和 HOTAIR rs12826786 C>T 多态性，作为识别乳腺癌患者的可能筛查工具。此外，我们还测试了两种标记物之间可能的关联以及疾病的侵袭性。结果 乳腺癌患者的血清巢蛋白中位数（最小值-最大值）为 31.3 (6.7-167.3 pg/mL)，而对照受试者的血清巢蛋白中值（最小值-最大值）为 42.3 (25.7-315.95) pg/mL。血清巢蛋白区分正常受试者和乳腺癌患者的最佳临界值为 39.9 pg/mL。该临界值的诊断敏感性为 84.8%，特异性为 65.1%。乳腺癌患者不同等位基因的分布与正常人相比存在显着性差异（P=0.039 Exact Fisher检验）。乳腺癌患者组CC、CT、TT基因型分别为23.9%、52.1%、23.9%，而对照组CC、CT、TT基因型分别为46.9%、42.8%、10.2%。结论 血清巢蛋白明显低于 39。在埃及乳腺癌患者中发现了 9 pg/mL 和较高百分比的 HOTAIR rs12826786 C>T 的 T/T 纯合变异等位基因。我们建议，报告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，并可能对筛查该疾病具有潜在益处。需要对不同种族群体进行更大规模的研究来证实我们的发现。