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

• Main Authors: Justina Bekampytė, Agnė Bartnykaitė, Aistė Savukaitytė, Rasa Ugenskienė, Erika Korobeinikova, Jurgita Gudaitienė, Elona Juozaitytė
• Format: Article
• Language: English
• Published: MDPI AG 2021-08-01
• Series: Diagnostics
• Subjects: breast cancer; SNP; <i>TP53</i>; <i>BBC3</i>; <i>CCND</i>; <i>EGFR</i>
• Online Access: https://www.mdpi.com/2075-4418/11/8/1419

Breast cancer is one of the most common oncological diseases among women worldwide. Cell cycle and apoptosis—related genes <i>TP53</i>, <i>BBC3</i>, <i>CCND1</i> and <i>EGFR</i> 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 <i>TP53</i> rs1042522, <i>BBC3</i> rs2032809, <i>CCND1</i> rs9344 and <i>EGFR</i> 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 <i>BBC3</i> rs2032809 was associated with age at the time of diagnosis, disease progression, metastasis and death. <i>CCND1</i> 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 <i>BBC3</i> rs2032809 and OS, PFS and MFS. <i>EGFR</i> 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, <i>BBC3</i> rs2032809 polymorphism was associated with breast cancer phenotype and prognosis. Therefore, it could be applied as potential markers for breast cancer prognosis.