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

• Published in: Molecular biology reports Vol. 50; no. 7; pp. 6279 - 6285
• Main Authors: Boguszewska-Byczkiewicz, Katarzyna, Wow, Thomas, Szymańska, Bożena, Kosny, Michał, Kolacinska-Wow, Agnieszka
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.07.2023; Springer Nature B.V
• Subjects: Alleles; Animal Anatomy; Animal Biochemistry; Apoptosis; Biomedical and Life Sciences; Breast cancer; Case-Control Studies; Cell death; Genotyping; Histology; Humans; Life Sciences; Morphology; PD-1 protein; Polymorphism; Polymorphism, Single Nucleotide - genetics; Programmed Cell Death 1 Receptor - genetics; Short Communication; Single-nucleotide polymorphism; Triple Negative Breast Neoplasms - genetics; Immune checkpoint; PDCD1; SNP; TNBC; PD-1
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-023-08423-3

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.