In a recent study published in Nature , a group of researchers provided a comprehensive genomic characterization of colorectal carcinoma (CRC), a type of cancer that starts in the colon or rectum, through whole-genome sequencing (WGS) of 2,023 samples, identifying novel driver genes, molecular subgroups, and potential clinical implications. Background CRC is the third most common cancer globally. Previous CRC sequencing efforts were limited in scope, focusing on a few hundred cases and primarily using whole-exome or gene panel sequencing, leaving the full range of genomic alterations and clinical associations unclear.
Further research is needed to explore the functional significance of newly identified driver mutations and to develop targeted therapies for diverse CRC subgroups. About the study Sample collection for the present study followed a detailed protocol, beginning with ethics approval granted by the Health Research Authority (HRA) Committee East of England–Cambridge South research ethics committee. The 100,000 Genomes Project (100kGP) cancer program, a high-throughput tumor sequencing initiative for National Health Service (NHS) cancer patients, facilitated the collection of samples across thirteen Genomic Medicine Centres (GMCs) established by the NHS and 100kGP.
Specialist nurses and other staff identified patients scheduled for CRC resections, and all participants provided written informed consent. Blood samples were taken, and tumor samples were evaluated in hi.