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PD-1 单核苷酸多态性 rs11568821 和 rs2227981 作为三阴性乳腺癌患者的一种新的预后模型。

The PD-1 single-nucleotide polymorphism rs11568821 and rs2227981 as a novel prognosis model in a triple-negative breast cancer patient.

机构信息

Department of Surgical Oncology, Copernicus Provincial Multidisciplinary Centre of Oncology and Traumatology, Paderewskiego 4, 93-513, Lodz, Poland.

Department of General Surgery and Surgical Oncology, Faculty of Medicine and Health Sciences, University of Zielona Gora, Zyty 26, 65-046, Zielona Gora, Poland.

出版信息

Mol Biol Rep. 2023 Jul;50(7):6279-6285. doi: 10.1007/s11033-023-08423-3. Epub 2023 May 22.

Abstract

INTRODUCTION

The aim of the study is to determine the relationship between polymorphisms rs11568821 C/T and at rs2227981 G/A in the programmed cell death 1 gene (PDCD1) and the clinicopathologic characteristics of triple negative breast cancer patient (TNBC).

MATERIAL AND METHODS

The study included 30 TNBC patients and 30 healthy controls. Genotyping was performed with allelic discrimination using PCR with TaqMan SNP Genotyping Assays.

RESULTS

The presence of CC/CT in rs11568821and GG/AG in rs2227981 were not associated with the risk of progression of TNBC. The correlation between rs11568821 minor allele distribution and risk of TNBC has borderline significance (p = 0.0619). The rs2227981 polymorphism has a significant association with grade G (G3, p = 0.0229). There was a trend toward significance (p = 0.063448) in the minor allele presentation and Ki67 > 20% for rs2227981. Other clinical features (e.g. age, TNM stage) did not significantly correlate with the rs11568821 or the rs2227981 polymorphism.

CONCLUSION

rs2227981 is associated with grading; hence PDCD1 can be used as a prognostic marker in TNBC.

摘要

介绍

本研究旨在探讨程序性细胞死亡 1 基因(PDCD1)中 rs11568821 C/T 和 rs2227981 G/A 多态性与三阴性乳腺癌患者(TNBC)临床病理特征的关系。

材料和方法

本研究纳入了 30 例 TNBC 患者和 30 例健康对照者。采用 TaqMan SNP 基因分型检测方法,通过 PCR 进行等位基因鉴别,进行基因分型。

结果

rs11568821 中的 CC/CT 和 rs2227981 中的 GG/AG 存在与 TNBC 的进展风险无关。rs11568821 次要等位基因分布与 TNBC 的风险之间存在相关性(p=0.0619),具有边缘统计学意义。rs2227981 多态性与分级(G3,p=0.0229)具有显著相关性。rs2227981 与 Ki67>20%的次要等位基因表达呈显著趋势(p=0.063448)。其他临床特征(如年龄、TNM 分期)与 rs11568821 或 rs2227981 多态性无显著相关性。

结论

rs2227981 与分级相关;因此,PDCD1 可作为 TNBC 的预后标志物。

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