DNA methylation profiling of whole blood DNA samples from BRCA1 wild-types without breast cancer and BRCA1 mutants with and without breast cancer (Prague Set 1). Homo sapiens

The Illumina Infinium 27k Human DNA methylation Beadchip v1.2 was used to obtain DNA methylation profiles across approximately 27,000 CpGs in whole blood DNA samples from 84 women (42 BRCA1 wild-type and healthy, 7 BRCA1 mutants and healthy, 35 BRCA1 mutants with breast cancer) Overall design: whole blood DNA from women, with and without breast cancer, and with or without BRCA1 mutation Bisulphite converted DNA from the whole blood samples were hybridised to the Illumina Infinium 27k Human Methylation Beadchip v1.2 The BRCA1 mutation status represent 0=healthy-brca1wt, 1=healthy-brca1mt, 2=breastcancer-brca1mt.

本研究使用Illumina Infinium 27k人类DNA甲基化微珠芯片v1.2（Illumina Infinium 27k Human DNA methylation Beadchip v1.2），对84名女性全血DNA样本中约27000个CpG位点（CpG）的DNA甲基化谱进行检测。该队列分为三组：42名BRCA1野生型健康女性、7名BRCA1突变型健康女性，以及35名携带BRCA1突变的乳腺癌女性。

实验整体设计：采集罹患或未罹患乳腺癌、携带或未携带BRCA1突变的女性的全血DNA；对上述全血样本的亚硫酸氢盐转化DNA，开展Illumina Infinium 27k人类甲基化微珠芯片v1.2（Illumina Infinium 27k Human Methylation Beadchip v1.2）杂交实验。

BRCA1突变状态编码规则如下：0代表健康BRCA1野生型个体，1代表健康BRCA1突变型个体，2代表携带BRCA1突变的乳腺癌患者。