Cases from the 100,000 Genomes Project

100,000 Genome Project Cancer Programme Teaching Cases

This is a Power Point Presentation created by Dr Katie Snape, Joint Lead Consultant for Cancer Genetics at the South West Thames Centre for Genomics and Honorary Senior Lecturer at St George’s University of London and Dr Nirupa Murugaesu, Consultant Oncologist at St George’s University Hospitals NHS Foundation Trust and Joint Cancer Lead for the London South Genomic Laboratory Hub. In this presentation, three cases from the 100,000 Genomes Project are presented. The tumour and germline genomic sequencing results are reviewed, explaining how mutational signatures and driver mutations in tumours can be used to guide treatment or consider the appropriateness of clinical trials.