Recently published in Nature Cancer, Andrea Degasperi and the Serena Nik-Zainal Group (MRC Cancer Unit and Medical Genetics) have performed a comprehensive re-assessment of how to identify mutational signatures, which are patterns of mutations that are present in human cancers, using 3,107 whole genome sequenced (WGS) primary cancers of 21 tumour-types. Their work shows that there may be inter-organ variation of mutational signatures and they reinforce their findings in a cohort of 3,096 WGS metastatic cancers. Furthermore, they demonstrate that mutational signatures with a high degree of genomic instability are often dependent on TP53 dysregulation. They go on to demonstrate why accurate signature assignment is critical for patient stratification. Andrea presents an enhanced, practical framework for mutational signature analyses in order to aid the community with performing such analyses.
 
This framework is presented as an online reference mutational signature webtool called Signal. Signal has been developed within the University of Cambridge Clinical School High Performance Computer structure by Jan Czarnecki and Scott Shooter (MRC Cancer Unit and Medical Genetics). This site houses all cancer-derived signatures, experimental signatures previously generated by the Nik-Zainal Group, and welcomes deposition from other groups. Signal also provides users with the ability to perform some of their own signature analyses.