Reacción a "Reactions to the finding of new combinations of mutations, 'mutational signatures', associated with specific cancers"

Serena Nik-Zainal's group at the University of Cambridge, in collaboration with groups from the Genome Project in the UK, performed an analysis on a large number of samples from different tumor types that provides new data on new patterns of mutations, which define different types of tumors. The team has made an extraordinary effort in analyzing thousands of samples of primary and metastatic tumors. Within this study, the ability to detect rare mutations that, according to their analysis, would turn out to be mostly context-specific, i.e., specific to the tissue where the tumor is located, stands out.

The authors have developed a methodology that will be very useful in the future for a more personalized diagnosis and for the development of combined therapies and new drugs that will allow patients to be treated more effectively depending on the type of tumor and the mutational signatures present in the tumor.