Journal Article

DNA methylation profiling in breast cancer discordant identical twins identifies <i>DOK7</i> as novel epigenetic biomarker

Holger Heyn, F. Javier Carmona, Antonio Gomez, Humberto J. Ferreira, Jordana T. Bell, Sergi Sayols, Kirsten Ward, Olafur A. Stefansson, Sebastian Moran, Juan Sandoval, Jorunn E. Eyfjord, Tim D. Spector and Manel Esteller

in Carcinogenesis

Volume 34, issue 1, pages 102-108
Published in print January 2013 | ISSN: 0143-3334
Published online October 2012 | e-ISSN: 1460-2180 | DOI:

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  • Clinical Cytogenetics and Molecular Genetics


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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.

Journal Article.  5004 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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