Identifying specific genes and gene variants that contribute to the development of cancer is important for several reasons, including to identify individuals who are at a high risk of developing cancer and to reveal new causes of cancer. These studies can involve a focus on germline variation (i.e. the DNA variation we inherit from our parents) as well as the somatic variation that occurs within tumours. The basis of these studies is usually extensive fieldwork with partners throughout the world, with a particular focus on populations that are at a high risk of developing a specific type of cancer. These studies involve accurate evaluation of lifestyle factors and environmental exposures, and require extensive biobanking and pathology expertise. Large-scale genetic studies typically involve many thousands of cases and controls in order to identify new cancer genes and variants, and genetics has thus become very much an international collaborative endeavour. Initiating, coordinating, and facilitating such studies is an important area of work for the Section of Genetics (GEN).
Most fieldwork activities within the Section are carried out within the Genetic Epidemiology Group (GEP), which also performs genome-wide genetic analysis as well as Mendelian randomization studies that aim to uncover novel causes of disease. GEP has recently initiated a Cancer Research UK (CRUK) Grand Challenge study, called the Mutographs of Cancer project, that involves whole-genome sequencing of tumours for multiple different types of cancer. The goal is to uncover mutation signatures that may point to underlying causes of the cancer. The Genetic Cancer Susceptibility Group (GCS) focuses on identifying uncommon or rare genetic variants that contribute to genetic cancer susceptibility. GCS uses a variety of study designs, including familial and case–control studies, as well as advanced genomic and bioinformatic techniques. GCS also manages much of the genomics and bioinformatics activities of other IARC scientific groups.