Bekampytė Justina, Bartnykaitė Agnė, Savukaitytė Aistė, Ugenskienė Rasa, Korobeinikova Erika, Gudaitienė Jurgita, Juozaitytė Elona
Oncology Research Laboratory, Oncology Institute, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania.
Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences Kaunas Clinics, LT-50161 Kaunas, Lithuania.
Diagnostics (Basel). 2021 Aug 5;11(8):1419. doi: 10.3390/diagnostics11081419.
Breast cancer is one of the most common oncological diseases among women worldwide. Cell cycle and apoptosis-related genes , , and 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 rs1042522, rs2032809, rs9344 and 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 rs2032809 was associated with age at the time of diagnosis, disease progression, metastasis and death. 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 rs2032809 and OS, PFS and MFS. 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, rs2032809 polymorphism was associated with breast cancer phenotype and prognosis. Therefore, it could be applied as potential markers for breast cancer prognosis.
乳腺癌是全球女性中最常见的肿瘤疾病之一。细胞周期和凋亡相关基因 、 、 和 在乳腺癌的发病机制中起重要作用。然而，这些基因中单个核苷酸多态性（SNP）的作用尚未完全明确。因此，本研究旨在分析rs1042522、rs2032809、rs9344和rs2227983多态性与乳腺癌表型及预后之间的关联。为进行分析，招募了171名立陶宛女性。从外周血中提取基因组DNA；采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行SNP分析。结果显示，rs2032809与诊断时的年龄、疾病进展、转移和死亡相关。rs9344与肿瘤大小相关，然而经Bonferroni校正后该关联失去显著性。在生存分析中，观察到rs2032809与总生存期（OS）、无进展生存期（PFS）和无远处转移生存期（MFS）之间存在显著关联。rs2227983在单因素Cox回归分析中也显示出与OS和PFS的一些关联。然而，在多因素Cox回归分析中结果失去显著性。总之，rs2032809多态性与乳腺癌表型及预后相关。因此，它可作为乳腺癌预后的潜在标志物。
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