Institut d'Oncologia de la Catalunya Sud (IOCS), Hospital Universitari Sant Joan de Reus, IISPV, Universitat Rovira i Virgili, Av. Del Dr. Josep Laporte, 43204, Reus, Spain.
Hospital Universitari Institut Pere Mata, IISPV, Universitat Rovira i Virgili, CIBERSAM, C/Sant Llorenç, Reus, Spain.
Clin Transl Oncol. 2018 Sep;20(9):1226-1231. doi: 10.1007/s12094-018-1837-0. Epub 2018 Feb 5.
Germline promoter hypermethylation of BRCA1 and BRCA2 genes is an alternative event of gene silencing that has not been widely investigated in hereditary breast and ovarian cancer (HBOC) syndrome.
We analyzed germline BRCA promoter hypermethylation in HBOC patients with and without BRCA mutations and control subjects, using a recently developed BRCA methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay.
Neither the patients tested nor the control subjects showed germline hypermethylation of the BRCA1 and BRCA2 promoter regions analyzed.
Despite the results achieved at somatic levels by other researchers, these were not confirmed in our study at the germline level. Our results show the need to establish more predictive CpG sites in the BRCA promoter regions to optimize the MS-MLPA assay for the detection of germline hypermethylation as an effective pre-screening tool for whole-BRCA genetic analysis in HBOC, because we can not rule out the existence of germline promoter hypermethylation in BRCA.
BRCA1 和 BRCA2 基因的种系启动子超甲基化是基因沉默的另一种事件，在遗传性乳腺癌和卵巢癌（HBOC）综合征中尚未广泛研究。
我们使用最近开发的 BRCA 甲基化特异性多重连接依赖性探针扩增（MS-MLPA）检测方法，分析了具有和不具有 BRCA 突变的 HBOC 患者以及对照者的种系 BRCA 启动子超甲基化。
测试的患者和对照者均未显示分析的 BRCA1 和 BRCA2 启动子区域的种系超甲基化。
尽管其他研究人员在体细胞水平上取得了结果，但在我们的研究中并未在种系水平上得到证实。我们的结果表明，需要在 BRCA 启动子区域建立更多的预测性 CpG 位点，以优化 MS-MLPA 检测方法，将种系超甲基化作为 HBOC 中全 BRCA 遗传分析的有效预筛选工具，因为我们不能排除 BRCA 中存在种系启动子超甲基化的可能性。
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