Simultaneous analysis of the methylation profile of 26 cancer related regions in invasive breast carcinomas by MS-MLPA and drMS-MLPA

MARZESE, DIEGO; GAGO, FRANCISCO; VARGAS ROIG, LAURA; ROQUÉ, MARÍA

MOLECULAR AND CELLULAR PROBES

ACADEMIC PRESS LTD-ELSEVIER SCIENCE LTD

Año: 2010 p. 271 - 280

0890-8508

Genetic and epigenetic events play a critical role in the tumorigenic process of breast cancer. The more genes are studied, the more accurate the epigenetic “signature” can be established. The aim of our work has been to apply the technique Methyl-Specific Multiplex Ligation Dependent Probe Amplification (MS-MLPA) to study the methylation profile of 26 cancer related gene regions in breast cancers. Secondly, we aimed to establish if the epigenetic “signature” could serve to detect circulating tumor DNA in breast cancer patients. The MS-MLPA was successfully setup and allowed to establish which regions were preferentially associated with the tumor process. The analysis permitted also to detect significant concurrent methylation between some genes. The detection of circulating tumor DNA could be performed by a “double round” MS-MLPA approach. This new application served to detect a small amount of tumor DNA shaded into the bloodstream of breast cancer patients. We conclude that MS-MLPA is an excellent assay to analyze the methylation profile of a tumor. The 82 studied samples presented a specific methylation “mark”. These studies serve to enhance the knowledge of the role of epigenetic alterations in breast tumors and can contribute to the development of personalized diagnosis, surveillance and treatment strategies.