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

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.

Keywords: Immune checkpoint; PD-1; PDCD1; SNP; TNBC.