EACR 21: The 1,600 methylome project and the importance of the epigenome in cancer

1 Jul 2010

Not only cancer genome: Part 1

You may have heard about the 1,000 Genomes Project*, an international research project launched in January 2008 with the aim of establishing the most detailed catalogue of human genetic variation.[1]

The project unites multidisciplinary research teams from institutes around the world, including the UK, China and the USA, and aims to sequence the genomes of at least one thousand anonymous participants from different ethnic groups, using next-generation sequencing technologies, which are faster and less expensive than previous ones.[2]

Each partner will contribute to the creation of an enormous sequence dataset, with the goal of redefining a human genome map that will be made freely accessible through public databases to the scientific community.

What you may not have heard of is another project with a similar name; the '1,600 methylome project'.

Manel Esteller, of the Cancer Epigenetics and Biology Program, Barcelona, presented it in his excellent talk at EACR 21, where he provided an overview of cancer epigenetics by giving five brief but revealing 'epigenetic stories'.

One of these was the establishment of the 1,600 methylome project, which is part of the broader Human Epigenome Project (HEP), that aims to identify, catalogue and interpret genome-wide DNA methylation patterns of all human genes in all major tissues. [3]

According to Manel Esteller, the importance of analysing the methylation status of the cancer genome cannot be underestimated, as methylation is the only flexible genomic parameter that can change genome function under exogenous influence, and hence it constitutes the main link between genetics, disease and the environment. In his words: "There are many concepts in biology and medicine that we accept as self-evident truths without further consideration. In many cases, however, pure genetic information does not provide a complete answer, and the environmental effects are difficult to measure; the old story of nature versus nurture. Epigenetics - and in particular, DNA methylation - has an important role at that interface. Thus, a complete analysis of the DNA methylation status of every CpG dinucleotide in an organism -the DNA methylome- would be extremely useful for understanding cellular physiology and disease".[4]

Esteller is also coordinator of Cancerdip, a European research initiative funded by the 7th Framework Programme for Research and Technological Development of the European Commission (FP7) which involves a consortium of European research centres with the aim of joining forces to decipher the language of the epigenetic control that lead to human cancer.[5]

Among the members of Cancerdip are both members of European academic and research centers, such as François Fuks (Laboratory of Cancer Epigenetics, University of Brussels), Henk Stunnenberg (Head of the Department of Molecular Biology at EMBO), Lucia Altucci (Associate Professor at the Second University of Naples), Thomas Lengauer and Christoph Bock (Max-Planck-Institut für Informatik, Saarbrücken), and members of the industry such as Juana Magdalena of Diagenode (a Belgian Biotech developing novel Epigenetics research tools).

*not to be confused with the $1,000 Genome Project, i.e. the possibility of sequencing the equivalent of an entire human genome for $1,000


[1] The 1,000 Genomes Project, available at website June 29, 2010).

[2] Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. 2010;(1):31-46.

[3] The Human Epigenome Project, available at website (accessed June 29, 2010).

[4] Question to Manuel Esteller on Nature Genetics Questions of the Year Website, (accessed June 29, 2010).

[5] Cancerdip Project, available at website (accessed June 29, 2010).