The discovery of genetic drivers of cancer can have critical implications for the diagnosis and treatment of cancer patients, yet genome analysis has focused primarily on only 1-2% of the whole genome - the part that contains the code for making proteins. What about the rest? Does it also play a role in driving the disease?
As part of the Pan-Cancer project, scientists have analyzed whole-genome sequencing data. To do this, the scientists had to develop new statistical methods suitable for analyzing the non-coding genome.
Joachim Weischenfeldt - now a group leader at the Biotech Research & Innovation Centre at the University of Copenhagen, and Rigshospitalet, Copenhagen - was a postdoc in the Genome Biology Unit at EMBL Heidelberg at the time of the research. He explains the rationale for the investigation:
Decades of work has been focused on identifying the consequences of changes in the protein-coding part of the genome. Many cancers have no important mutations in the protein-coding part, but something is driving the cancer. By inference, we suspect the non-coding part is playing an important role in these unexplained cases."
The analysis focused on identifying driver point mutations - mutations that affect only one or very few letters of the DNA code - and structural variants, or rearrangements, in the non-coding regions of the genome. In addition to identifying new drivers, the analysis confirmed some previously reported drivers and, importantly, invalidated others. It also identified novel putative driver rearrangements near genes called the AKR1C genes. This correlated with increased gene expression across lung and liver cancers. Related Stories
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