PTEN rs701848作为乳腺癌预测标志物的临床影响
Basma El-Sayed Fotouh1, Mai Abd El-Meguid1, Ghada Maher Salum1
1Department of Microbial Biotechnology, Biotechnology Research Institute, National Research Centre, Dokki, P.O. 12622, Giza, Egypt.
Clinical biochemistry
|January 10, 2025
概括
患有PTEN rs701848T/C遗传变异的乳腺癌风险增加. 随着疾病的进展,PTEN蛋白水平显著下降,这表明它有可能成为乳腺癌的预测标志物.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 乳腺癌 (BC) 发病率在全球范围内不断上升,使其成为女性最常见的恶性瘤.
- PTEN (酸酶和张素同类物) 通过抑制PI3K/AKT通路而起瘤抑制作用.
- 了解PTEN的遗传变异对于BC研究至关重要.
研究的目的:
- 研究PTEN rs701848T/C遗传变异与乳腺癌进展之间的关联.
- 为了评估乳腺癌患者的PTEN蛋白水平.
- 探索PTEN作为乳腺癌预测生物标志物的实用性.
主要方法:
- 用生物信息分析来研究PTEN rs701848T/C多态性.
- 用qRT-PCR对100名埃及BC患者和50名健康对照进行基因型鉴定.
- 通过ELISA量化PTEN蛋白水平,与临床数据相关.
主要成果:
- 在乳腺癌患者中,PTEN rs701848T/C的TC基因型显著更频繁 (p=0.03).
- 携带TC的患者表现出晚期瘤阶段,更大的瘤大小和转移的风险增加.
- PTEN蛋白水平显著下降,与疾病进展和诊断准确性相关.
结论:
- PTEN rs701848T/C多态性与增加乳腺癌风险和进展有关.
- 降低的PTEN蛋白水平与晚期疾病阶段有关.
- 作为乳腺癌的基因组和蛋白质组水平的预测生物标志物,PTEN具有前景.
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