Institute of Biology Systems and Genetic Research, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Institute of Oncology, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Biomarkers. 2021 Jun;26(4):343-353. doi: 10.1080/1354750X.2021.1900397. Epub 2021 Mar 26.
Breast cancer is the most frequent female cancer, leading to relapse with distant metastasis of approximately one-third of patients. Cancer is usually considered a genetic disease involving mutations in nuclear DNA. However, genes, coding for mitochondrial proteins or regulatory molecules, are rarely under consideration. This study aimed to analyse 10 single nucleotide variants in and genes and assess their association with tumour phenotype and disease outcome.
A total of 234 breast cancer patients were included in this study. Variations were determined with Real-Time PCR using TaqMan probes.
We found that patients with rs2307441 TT and CT genotypes had a lower probability for vascular invasion than those with CC genotype ( 0.001). Patients with rs2072267 AG genotype were predisposed for progression compared with GG genotype ( 0.015). rs3900887 TT genotype was associated with a higher probability for positive oestrogen receptors ( 0.003) and lymphatic invasion ( 0.001) in comparison to AA genotype, patients with TT ( 0.000) were more likely to have positive lymph nodes.
Our data suggest that variations in and genes are important determinacies of tumour phenotype and disease outcome in breast cancer patients.
乳腺癌是最常见的女性癌症，大约三分之一的患者会出现远处转移的复发。癌症通常被认为是一种涉及核 DNA 突变的遗传疾病。然而，很少考虑编码线粒体蛋白或调节分子的基因。本研究旨在分析 基因中的 10 个单核苷酸变异，并评估它们与肿瘤表型和疾病结果的关系。
本研究共纳入 234 例乳腺癌患者。使用 TaqMan 探针通过实时 PCR 确定变异。
我们发现，与 CC 基因型相比， rs2307441 TT 和 CT 基因型的患者发生血管侵犯的可能性较低（ 0.001）。与 GG 基因型相比， rs2072267 AG 基因型的患者更容易发生进展（ 0.015）。与 AA 基因型相比， rs3900887 TT 基因型的患者雌激素受体阳性（ 0.003）和淋巴管侵犯（ 0.001）的可能性更高，与 TT 基因型的患者相比，TT 基因型的患者更容易发生阳性淋巴结（ 0.000）。
我们的数据表明， 基因和 基因中的变异是乳腺癌患者肿瘤表型和疾病结果的重要决定因素。
