The Sarcoma Genomics England Clinical Interpretation Partnership (GeCIP), led by Professor Adrienne Flanagan of the London Sarcoma Service, brings together sarcoma researchers and clinicians in the UK to process, analyse and interpret the genomics data generated by the 100,000 Genomes Project. Key partners in the genomics working group include scientists from the Francis Crick Institute, University College London, University of Birmingham and the Wellcome Trust Sanger Institute.
The genomic datasets from sarcoma participants will allow the team to discover genomic mutations (CNVs, SNVs, SVs, indels) contributing to the tumour initiation, development, evolution and intra-tumour heterogeneity. Additional ongoing research studies, led by various Sarcoma GeCIP members, to decipher the transcriptomic and epigenomic landscape of these sarcoma samples from the 100,000 Genomes Project will further contribute to a comprehensive understanding of the recurrent genetic driver mutations in a range of sarcoma subtypes and help to identify and better define the different tumours.
Dr Nischalan Pillay, Honorary Consultant Pathologist at RNOH and Cancer Research UK clinician scientist is a member of the team co-ordinating the analysis of the sarcoma genomes. Dr Pillay’s lab is focussed on unravelling the complex genetics of some sarcoma subtypes for clinical benefit (https://www.ucl.ac.uk/cancer/research/department-pathology/sarcoma-biology-and-genomics). Recently Dr Christopher Steele in the Pillay lab developed a novel method to extract biologically and clinically useful information from the genomes undifferentiated pleomorphic sarcomas which was published in Cancer Cell (https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30097-2). Ms Shadi Hames, a PhD student funded by Sarcoma UK (Sayako Grace Robinson fellowship) will work with Dr Steele to apply this method to the sarcoma genomes sequenced by GEL which has many other sarcoma subtypes. She will also be investigating the genetic determinants of immune evasion in sarcoma which is of clinical importance due to the rapid advances being made in the immunotherapy field.