Analysis of cancer cell genomes from more than 12,000 patients has revealed dozens of new mutational signatures, providing unprecedented insight into the causes of cancer.
“Mutational signatures are like fingerprints at a crime scene”
Cancer cells can have thousands of different and unusual mutations, but only a few are known to cause a tumor to develop. Published in the journal Sciencethis new work carried out by researchers from thecambridge university focused on cataloging their signatures offers the most comprehensive picture to date of the mutations that cause the majority of human cancers.
” Mutational signatures are like fingerprints at a crime scene – they help identify the causes of cancer “, Explain Serena Nik Zainal, co-author of the new study. ” Some of them have major clinical or therapeutic implications, as they can highlight abnormalities that can be targeted by specific drugs or indicate a potential ‘Achilles heel’ in certain cancers. »
The cataloging of these mutational fingerprints allows researchers to target specific environmental or lifestyle factors that may cause cancer. For example, previous studies had shown that a distinct mutation in melanoma was directly linked to ultraviolet (UV) radiation, clearly confirming that excessive exposure to it was an important cause of skin cancer.
The British researchers confirmed 51 previously described mutational signatures and identified 58 entirely new signatures, encompassing all common cancers. According to them, building this body of knowledge could contribute to essential discoveries, such as a better understanding of the environmental exposures at the origin of cancer.
New, more targeted treatments
This library of mutational signatures will also help scientists better understand the mechanisms governing the development of certain tumours, opening the way to new, more targeted cancer treatments.
” These signatures are a good example of harnessing the potential of whole genome sequencing “, valued Matt Brownof Genomics England. ” We intend to rely on the mutational indices observed in this study in order to improve the diagnosis and management of cancer patients.. »
Note that a few weeks ago, a similar study had identified 42 new genes linked to an increased risk of developing the disease ofAlzheimer’s.
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