Genedata AG, Margarethenstrasse 38, 4053 Basel, Switzerland.
Epigenomics. 2014 Jun;6(3):311-27. doi: 10.2217/epi.14.20.
Breast, ovarian and endometrial cancers cause significant morbidity and mortality. Despite the presence of existing screening, diagnostic and treatment modalities, they continue to pose considerable unsolved challenges. Overdiagnosis is a growing problem in breast cancer screening and neither screening nor early diagnosis of ovarian or endometrial cancer is currently possible. Moreover, treatment of the diversity of these cancers presenting in the clinic is not sufficiently personalized at present. Recent technological advances, including reduced representation bisulfite sequencing, methylation arrays, digital PCR, next-generation sequencing and advanced statistical data analysis, enable the analysis of methylation patterns in cell-free tumor DNA in serum/plasma. Ongoing work is bringing these methods together for the analysis of samples from large clinical trials, which have been collected well in advance of cancer diagnosis. These efforts pave the way for the development of a noninvasive method that would enable us to overcome existing challenges to personalized medicine.
乳腺癌、卵巢癌和子宫内膜癌会导致严重的发病率和死亡率。尽管已经存在现有的筛查、诊断和治疗方法，但它们仍然带来了许多尚未解决的挑战。过度诊断是乳腺癌筛查中日益严重的问题，而且目前还无法进行卵巢癌或子宫内膜癌的筛查或早期诊断。此外，目前针对临床上出现的各种癌症的治疗还不够个体化。最近的技术进步，包括简化代表性亚硫酸氢盐测序、甲基化阵列、数字 PCR、下一代测序和高级统计数据分析，使我们能够分析血清/血浆中循环肿瘤 DNA 中的甲基化模式。目前正在将这些方法结合起来，对事先收集的大型临床试验样本进行分析。这些努力为开发一种非侵入性方法铺平了道路，这种方法将使我们能够克服个性化医疗方面现有的挑战。
