The Investigation of Associations between TP53 rs1042522, BBC3 rs2032809, CCND1 rs9344, EGFR rs2227983 Polymorphisms and Breast Cancer Phenotype and Prognosis

Justina Bekampytė; Agnė Bartnykaitė; Aistė Savukaitytė; Rasa Ugenskienė; Erika Korobeinikova; Jurgita Gudaitienė; Elona Juozaitytė

doi:10.3390/diagnostics11081419

The Investigation of Associations between TP53 rs1042522, BBC3 rs2032809, CCND1 rs9344, EGFR rs2227983 Polymorphisms and Breast Cancer Phenotype and Prognosis

Diagnostics (Basel). 2021 Aug 5;11(8):1419. doi: 10.3390/diagnostics11081419.

Authors

Justina Bekampytė¹, Agnė Bartnykaitė¹, Aistė Savukaitytė¹, Rasa Ugenskienė^{1

2}, Erika Korobeinikova³, Jurgita Gudaitienė³, Elona Juozaitytė³

Affiliations

¹ Oncology Research Laboratory, Oncology Institute, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania.
² Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences Kaunas Clinics, LT-50161 Kaunas, Lithuania.
³ Department of Oncology and Hematology, Hospital of Lithuanian University of Health Sciences Kaunas Clinics, LT-50161 Kaunas, Lithuania.

Abstract

Breast cancer is one of the most common oncological diseases among women worldwide. Cell cycle and apoptosis-related genes TP53, BBC3, CCND1 and EGFR play an important role in the pathogenesis of breast cancer. However, the roles of single nucleotide polymorphisms (SNPs) in these genes have not been fully defined. Therefore, this study aimed to analyze the association between TP53 rs1042522, BBC3 rs2032809, CCND1 rs9344 and EGFR rs2227983 polymorphisms and breast cancer phenotype and prognosis. For the purpose of the analysis, 171 Lithuanian women were enrolled. Genomic DNA was extracted from peripheral blood; PCR-RFLP was used for SNPs analysis. The results showed that BBC3 rs2032809 was associated with age at the time of diagnosis, disease progression, metastasis and death. CCND1 rs9344 was associated with tumor size, however an association resulted in loss of significance after Bonferroni correction. In survival analysis, significant associations were observed between BBC3 rs2032809 and OS, PFS and MFS. EGFR rs2227983 also showed some associations with OS and PFS (univariate Cox regression analysis). However, the results were in loss of significance (multivariate Cox regression analysis). In conclusion, BBC3 rs2032809 polymorphism was associated with breast cancer phenotype and prognosis. Therefore, it could be applied as potential markers for breast cancer prognosis.

Keywords: BBC3; CCND; EGFR; SNP; TP53; associations; breast cancer; phenotype; prognosis.