Epigenetics in cancer genesis

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Published: 7 Oct 2015
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Dr Manel Esteller – Instituto de Investigación Biomédica de Bellvitge, Barcelona, Spain

Prof Esteller talks to ecancertv at ECC 2015 about his presentation ‘Epigenetics in Cancer Genesis’.

Epigenetics is the study of cellular and physiological phenotypic trait variations that are caused by external or environmental factors that switch genes on and off and affect how cells read genes instead of being caused by changes in the DNA sequence.

Epigenetics can be used to better understand how cancer develops and potentially identify changes within tumour cells that could be targeted or affected by cancer treatment. One such example is DNA methylation, he says. Dr Esteller also mentions that there is new technology based on epigenetics that enables the origin of metastatic tumours to be identified even if the primary tumour location is not known.

ECC 2015

Epigenetics in cancer genesis

Dr Manel Esteller – Instituto de Investigación Biomédica de Bellvitge, Barcelona, Spain


This morning I presented cancer epigenetics. Cancer epigenetics is the way that we regulate our genome that is deregulated in cancer cells. It is deregulated because you have changes in DNA methylation which is the main epigenetic modification, changes in histone modifications and changes in RNAs. This looks so far away from the practical oncology, it’s no so far away because right now there are drugs that are able to target these particular enzymes that mutate in some cases in human cancer. This morning I presented a couple of practical uses of DNA methylation. One is DNA methylation in tumours just to produce response to therapies. I showed that BRCA1 methylation predicts response to PARP inhibitors, the methylation predicts response to inhibitors of glycolysis, methylation of MGMT predicts response to temodal in glioma etc, etc.

Finally I presented something even more novel, that we have a device, technology, to help in the diagnosis of tumours of unknown primary. These are the patients that have metastasis and medical oncology doesn’t know where it came from. So I apply this test, this picture, and now we can say the tumour that you provided me, it comes from the colon, from the breast, from the ovary, from the head and neck. So we’re giving a diagnosis that hopefully will improve the survival of these patients right now in the world of personalised medicine.