More than 2,600 cancers were analyzed for an extraordinary study published in Nature. Nearly 1,300 researchers have dissected their genomes to establish an overview of the genetic mutations that cause 38 different cancers.
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It is an extraordinary research project that has mobilized more than 1,300 researchers from 200 different institutes for a decade. The objective of ” Pan-Cancer of Whole Genomes Analysis Project Is ambitious: compare the complete genome of tumors isolated from 2,600 patients with healthy tissue for a range of 38 cancers.
The results of this work have been compiled into 20 publications in the journal Nature and published on February 5, 2020. What are the new features of this work by Titan ?
81 mutations that sign cancer
The strong point of this project is the sequencing and studying the full genome of cancer cells, which have become malignant following a genetic alteration. analysis over 4,645 genomes enabled scientists to map mutations genetic.
It includes 81 signature mutations from cancer. Among them, there are 49 substitutions of a nucleotide, 11 substitutions of two nucleotides, 4 substitutions in clusters of uncomfortable and traces of 17 insertions-deletions.
To simplify matters, the researchers hypothesized that each signature mutation is the result of an event. They can be due to several factors like age or environment, other mutations are hereditary.
New pilot mutations identified
In addition, other mutations, called ” driver mutation Which could be translated as pilot mutations, determine the development of cancer. Those known appear in coding genes.
The Pan-Cancer project was able to identify new involved in the non-coding parts of the gene (such as the promoter). They would be four to five per genome of malignant cells, although in 5% of cases none could be identified.
On the other hand, cancers that affect different organs may have common pilot mutations: ” We found a type of breast cancer have the same type of pilot mutation as prostate cancer “Explains Joachim Weischenfeldt, a scientist from the University of Copenhagen who participated in the project, to AFP.
New data that scientists hope to exploit as a therapeutic target. ” If we can understand what causes the accumulation of mutations, the proliferation of certain clones at the expense of others, what lifestyles to adopt to keep this balance, then we can think about the means of intervening upstream, in order to prevent or slow down theemergence intractable cancers “Concludes Peter Campbell, member of the Pan-Cancer project steering committee.
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