Smolarz Beata, Połać Ireneusz, Romanowicz Hanna
Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Division of Reproductive Medicine, Gameta Hospital - Lodz, Rzgow, Poland.
Contemp Oncol (Pozn). 2021;25(3):191-197. doi: 10.5114/wo.2021.109727. Epub 2021 Oct 5.
The aim of the study was to analyze three single nucleotide polymorphisms - rs1520220, rs2946834, rs6219 - of the gene in the context of breast mammographic density.
The research material included 202 samples of the peripheral blood of women with increased mammographic breast density and 238 samples of the epithelium from the oral mucosa of women without diagnosed pathological changes of the breast and with no family history of breast and/or ovarian cancer. The real-time polymerase chain reaction method was applied for analysis of polymorphisms.
rs1520220 polymorphism was associated with increased mammographic density of the breasts. The presence of the CC genotype in the gene increased the risk of developing higher breast density visible in mammography by 2.43-fold. CC homozygotes (rs1520220) correlated with higher Breast Imaging-Reporting and Data System scale (3 vs. 4 and 5) (OR = 5.6; 95% CI: 1.82-16.3, = 0.001). In the present study no relationship was detected between rs6219 and rs2946834 polymorphism and mammographic breast density.
The results suggest that the rs1520220 polymorphism of the gene plays an important role in the occurrence of increased mammographic breast density.
本研究旨在分析该基因的三个单核苷酸多态性——rs1520220、rs2946834、rs6219——与乳腺钼靶密度的关系。
研究材料包括202份乳腺钼靶密度增加的女性外周血样本，以及238份未诊断出乳腺病理变化且无乳腺癌和/或卵巢癌家族史的女性口腔黏膜上皮样本。采用实时聚合酶链反应方法分析多态性。
rs1520220多态性与乳腺钼靶密度增加有关。该基因中CC基因型的存在使钼靶检查中可见的乳腺密度增加的风险提高了2.43倍。CC纯合子（rs1520220）与更高的乳腺影像报告和数据系统分级（3级与4级和5级相比）相关（OR = 5.6；95%CI：1.82 - 16.3，P = 0.001）。在本研究中，未检测到rs6219和rs2946834多态性与乳腺钼靶密度之间的关系。
结果表明该基因的rs1520220多态性在乳腺钼靶密度增加的发生中起重要作用。
