DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker.

DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker.
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乳腺癌不一致同卵双胞胎的 DNA 甲基化分析将 DOK7 确定为新型表观遗传生物标志物。

DOI:
10.1093/carcin/bgs321
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发表时间:
2013-01
期刊:
影响因子:
4.7
通讯作者:
Esteller M
Esteller M
中科院分区:
医学2区
文献类型:
--
作者:
Heyn H;Carmona FJ;Gomez A;Ferreira HJ;Bell JT;Sayols S;Ward K;Stefansson OA;Moran S;Sandoval J;Eyfjord JE;Spector TD;Esteller M

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使用 15 对乳腺癌不一致的双胞胎的全血和高分辨率 (450K) DNA 甲基化分析,我们鉴定了 403 个差异甲基化 CpG 位点,包括已知和新的潜在乳腺癌基因。在由 21 对双胞胎组成的独立验证队列中确认结果后,确定对接蛋白 DOK7 作为基于血液的癌症诊断的候选蛋白。在原发性乳腺癌组织和癌细胞系中也发现了启动子区域的 DNA 高甲基化。 DOK7 的高甲基化发生在肿瘤诊断前数年,表明其作为强大的表观遗传血液生物标志物的作用,并为乳腺癌发病机制提供了见解。
Using whole blood from 15 twin pairs discordant for breast cancer and high-resolution (450K) DNA methylation analysis, we identified 403 differentially methylated CpG sites including known and novel potential breast cancer genes. Confirming the results in an independent validation cohort of 21 twin pairs determined the docking protein DOK7 as a candidate for blood-based cancer diagnosis. DNA hypermethylation of the promoter region was also seen in primary breast cancer tissues and cancer cell lines. Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a powerful epigenetic blood-based biomarker as well as providing insights into breast cancer pathogenesis.
DOI: 10.1016/j.ygeno.2011.07.007
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