Department of Medical Genetics, Faculty of Medicine, Ahvaz Judishapur University of Medical Sciences, Ahvaz, Iran.
Student Research Committee, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Asian Pac J Cancer Prev. 2023 Mar 1;24(3):811-817. doi: 10.31557/APJCP.2023.24.3.811.
Similar to other types of cancer, the development of breast cancer is a multi-stage process, consisting of various mutations and epigenetic changes in many genes. Mutations in the BRCA1 gene, which is a tumor suppressor gene, are considered as the most important types of mutations. The pivotal role of epigenetics is currently considered as the primary key to carcinogenesis. Several studies have previously reported the BRCA1 epigenetic silencing through promoter methylation in the pathophysiology of breast cancer cells. This study aimed to investigate whether the BRCA1 gene promoter methylation in peripheral blood cells is correlated with the risk of breast cancer.
In the current study, DNA samples were extracted from blood cells belonged to 74 patients with breast cancer as well as 30 healthy individuals, and the BRCA1 gene promoter methylation status in these two groups was examined using Methylation Specific PCR (MSP).
out of 74 patients, 2 cases demonstrated methylation in their BRCA1 gene promoter; however, none of the healthy controls demonstrated methylation status. Among these 74 patients, 13 cases were at the early stages (stage I), and two patients who had BRCA1 gene methylation (15.4%), were in this group (p=0.02). While 34 and 27 patients were at stages II and III, respectively, showing a negative state of BRCA1 gene methylation.
Although 2 out of 74 patients resulted positive for methylation status, the healthy controls demonstrated no methylation. Consequently, there was inadequate evidence to confirm the association between BRCA1 gene promoter methylation in blood and the risk of developing breast cancer.
与其他类型的癌症类似，乳腺癌的发展是一个多阶段的过程，涉及许多基因的各种突变和表观遗传变化。BRCA1 基因是一种肿瘤抑制基因，其突变被认为是最重要的突变类型之一。目前认为表观遗传在致癌作用中起着关键作用。以前的几项研究已经报道了乳腺癌细胞病理生理学中 BRCA1 基因启动子甲基化的表观遗传沉默。本研究旨在探讨外周血细胞中 BRCA1 基因启动子甲基化是否与乳腺癌的风险相关。
在本研究中，从 74 名乳腺癌患者和 30 名健康个体的血细胞中提取 DNA 样本，并使用甲基化特异性 PCR（MSP）检测这两组中 BRCA1 基因启动子的甲基化状态。
在 74 名患者中，有 2 例显示 BRCA1 基因启动子甲基化；然而，健康对照组均未显示甲基化状态。在这 74 名患者中，有 13 例处于早期（I 期），而这组中有 2 例 BRCA1 基因甲基化的患者（15.4%）（p=0.02）。而 34 例和 27 例患者分别处于 II 期和 III 期，BRCA1 基因甲基化呈阴性状态。
尽管 74 名患者中有 2 名显示甲基化状态阳性，但健康对照组未显示甲基化。因此，没有足够的证据证实血液中 BRCA1 基因启动子甲基化与乳腺癌发病风险之间的关联。
