Research Sections

Section of Genetics

Identifying specific genes and gene variants that contribute to the development of cancer can be important for a number of reasons. These include a greater understanding of biological pathways that are involved in cancer, elucidating how environmental factors may exert their effects in combination with genes, and also identifying individuals who are at high enough risk that they are likely to benefit from existing risk reduction strategies.

The Genetics Section comprises three Groups with the overall mission of identifying genes involved in cancer, characterising the spectrum of pathogenic sequence variants that they harbour, and understanding how they interact with non-genetic factors. These are the Genetic Epidemiology Group (GEP), the Genetic Cancer Susceptibility Group (GCS) and the Biostatistics Group (BST). GEP is mainly involved in coordinating large population-based epidemiological studies and analysis of multiple common genetic variants in order to identify new susceptibility loci. Cancers of primary interest include those of the lung and upper aerodigestive tract (including the nasopharynx) as well as those of the kidney and pancreas. GCS is mainly involved in identification of rarer variants or mutations in known or strong candidate cancer loci that result in a substantial cancer risk. The main focus is on breast cancer, with a growing interest in basal-type breast tumours. Findings from the GCS Group may have direct prevention implications by resulting in more accurate analysis of clinical mutation screening data from high-risk susceptibility genes such as BRCA1, BRCA2, MLH1 and MSH2. GCS also provides a genotyping platform service for both Groups. BST provides overall statistical and bioinformatics support to GEP and GCS while serving as a local point for statistical activity within the Agency.

Major sources of funding include large project grants from the US National Cancer Institute, as well as the European Commission FP7 research programme. Other important sources of current funding include the World Cancer Research Fund and the Canadian Institutes of Health Research.