Bartnykaitė Agnė, Savukaitytė Aistė, Ugenskienė Rasa, Daukšaitė Monika, 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.
J Clin Med. 2021 Feb 19;10(4):866. doi: 10.3390/jcm10040866.
Breast cancer is one of the most common cancers worldwide. Single nucleotide polymorphisms (SNPs) in and have been associated with various cancers. However, the influence on clinical characteristics of breast cancer has not been sufficiently investigated yet. Thus, this study aimed to investigate the relationship between SNPs in (rs2279744, rs937283, rs937282) and (rs1380576, rs4245739) and I-II stage breast cancer. For analysis, the genomic DNA was extracted from 100 unrelated women peripheral blood. Polymorphisms were analyzed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The study showed that rs937283 and rs937282 were significantly associated with estrogen receptor status and human epidermal growth factor receptor 2 (HER2) status. SNPs rs1380576 and rs4245739, located in , were significantly associated with status of estrogen and progesterone receptors. Our findings suggest that rs937283 AG, rs937282 CG, rs1380576 CC, and rs4245739 AA genotypes were linked to hormonal receptor positive breast cancer and may be useful genetic markers for disease assessment.
乳腺癌是全球最常见的癌症之一。[基因名称1]和[基因名称2]中的单核苷酸多态性（SNP）与多种癌症相关。然而，其对乳腺癌临床特征的影响尚未得到充分研究。因此，本研究旨在探讨[基因名称1]（rs2279744、rs937283、rs937282）和[基因名称2]（rs1380576、rs4245739）中的SNP与I-II期乳腺癌之间的关系。为进行分析，从100名无亲缘关系女性的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）分析方法检测多态性。研究表明，rs937283和rs937282与雌激素受体状态和人表皮生长因子受体2（HER2）状态显著相关。位于[基因名称2]中的SNP rs1380576和rs4245739与雌激素和孕激素受体状态显著相关。我们的研究结果表明，rs937283 AG、rs937282 CG、rs1380576 CC和rs4245739 AA基因型与激素受体阳性乳腺癌相关，可能是用于疾病评估的有用遗传标记。
