Genetic and environmental factors are implicated in the aetiology of breast cancer. Genetic susceptibility is mediated by rare highly penetrant mutations and variants with more modest effects on risk. Mutations in the BRCA1 and BRCA2 genes confer high risks of breast and ovarian cancer. Genetic models have been devised to calculate the probability of carrying mutations in these genes and of subsequently developing cancer. My research currently involves risk modelling of breast cancer, and constructing genomic profiles for breast cancer using data from recent genome wide association studies.
