Conference 2021 Poster Presentation

 

Project title

Analysis of genetic polymorphisms of PD-1 gene in breast cancer patients

 

Authors and Affiliations

Sarah Lott Moretto1, Bruna Karina Banin-Hirata1,2, Alberto Yoichi Sakaguchi1, Carolina Batista Ariza2, Nathália de Sousa-Pereira1, Mayara Bocchi-Fernandes1, Matheus Dominato Munuera1, Mariana de Oliveira Pinsetta1, Luiz Henrique Fernandes Spolador1, Caroline Yukari Motoori-Fernandes1, Glauco Akelinghton Freire Vitiello1, Isaura Maria Fuzinatto1, Marla Karine Amarante1, Maria Angelica Ehara Watanabe1

1. Department of Pathological Sciences, State University of Londrina, Londrina, Brazil.
2. Philadelphia University Center, Collegiate of Biomedicine, Londrina, Brazil

 

Abstract

Background

Tumors are heterogeneous and include besides neoplastic cells and surrounding stroma, immunological cells. Activated T CD8+ lymphocytes present great importance in the antitumor response. The programmed cell death protein 1 (PD-1), expressed mainly by T lymphocytes is part of an important immune checkpoint and may contribute to tumorigenesis while associated to its ligand PD-L1 or PD-L2, expressed by tumour cells. It is known that genetic polymorphisms may cause structural and quantitative alterations. In this context, this study aims to analyse the allelic variants rs11568821 and rs41386349 from PD-1 gene in 204 breast cancer patients and 400 woman free of cancer, and correlate them with clinicopathological parameters.

Methods

DNA extraction was performed from peripheral blood samples, through the salting-out method. After executing the polymerase chain reaction-restriction fragment length polymorphism technique, the DNA fragments were separeted through electrophoresis and samples were characterized for statistical analysis.

Results

In this case-control association study it was found that carriers of the A allele of the genetic polymorphism rs11568821 of the PD-1 gene have a higher risk of developing breast cancer (OR=2,42; CI=1,59-3,69; p<0,0001). This polymorphism also correlated with the clinicopathological parameters estrogen (τ= 0,25; p= 0,00) and progesterone (τ=0,17; p=0,021) receptors positivity, which are considered as worse prognosis. However, no association between the variation rs41386349 and breast cancer was found.

Conclusions

These findings contribute to the comprehension of the interaction between PD-1 checkpoint inhibitory function and anti-tumor response and can be considered as a potential marker of susceptibility and prognostic for breast cancer.

 


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