DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker
Menée sur des échantillons sanguins prélevés sur des jumelles atteintes d'un cancer du sein, des tissus tumoraux et des lignées cellulaires, cette étude suggère que l'hyperméthylation du gène DOK7 pourrait servir pour le diagnostic précoce de la maladie
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 obtained from the identification set in an independent validation cohort of 21 twin pairs determined an alternative gene product of 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.
Carcinogenesis , article en libre accès, 2012