Large-scale study of the genome revealed the secrets of cancer formation

UNITED STATES (OBSERVATORY NEWS) — More than 1300 scientists took part in the multi-year study of the genomic sequences of various cancers of the Pan-Cancer Project . During the project, the genomes of 38 cancers were sequenced from samples obtained from 2800 patients.

The results of the study were published in 21 articles that appeared in the editions of the Nature Publishing Group . This is the largest and most comprehensive study of the genetic basis of cancer in the history of science, which reveals many important details: from the location of driver mutations that trigger the process of non-stop cell division, to the amazing similarity between neoplasms in different types of tissues.

Thousands of combinations of mutations associated with individual cancers have been identified, and more than 80 processes that trigger driver mutations have been identified. “With the knowledge we have about the origin and development of tumors, we can develop new treatment tools and methods for early detection of cancer, create more targeted therapies and treat patients more successfully,” said Lincoln Stein of the Ontario Institute of Cancer Research, member of the Pan Steering Committee.

Most of the previous works of this kind have focused on exons – DNA sequences encoding certain proteins. However, exons make up only 2% of human RNA. The Pan-Cancer Project was dedicated to the remaining 98% – the so-called introns, or non-coding DNA.

Research has shown that the early development of certain types of cancer can begin decades before a diagnosis is made — sometimes even in early childhood. According to the researchers, this shows that the “window of opportunity” for the use of anti-cancer therapy is much wider than previously thought. It was also found that mutation patterns and their location in the genome allow identification of up to 5% of cancers that cannot be diagnosed by standard methods.

The spread in the number of mutations associated with different types of cancer turned out to be extremely large: from single changes (some types of cancerous tumors found in children) to hundreds of thousands of mutations (for lung cancer). About 5% of tumors could not be associated with known driver mutations – they have yet to be detected.

Nevertheless, often pathological processes in different parts of the body are similar. “We may have a type of breast and prostate cancer with similar driver mutations,” says Joachim Weissenfeldt of the University of Copenhagen, one of the project participants. “So these patients can receive the same treatment.”

From a practical point of view, the results obtained in the Pan-Cancer Project will help to identify difficultly diagnosed cancers, create more targeted treatment based on disease-specific mutations and conduct earlier diagnosis of developing tumors.


This article is written and prepared by our foreign editors writing for OBSERVATORY NEWS from different countries around the world – material edited and published by OBSERVATORY staff in our newsroom.

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