Factors and Mechanisms in Hereditary Breast Cancer Predisposition
Strategic research project of the University of Oulu
Focus institute: Biocenter Oulu
Faculty: Faculty of Medicine (FMED)
Breast cancer is the most common malignancy among women. Constitutional heterozygous mutations in high-penetrance susceptibility genes such as BRCA1 and BRCA2 account for 5–10% of breast cancer cases, but also more commonly occurring mutations in various moderate- and low-penetrance susceptibility genes have been uncovered. Unfortunately, the mechanistic details of how dysfunctional hereditary factors act to promote malignancy development has remained largely obscure. In addition, a considerable fraction of the components involved in breast cancer predisposition are still unknown. Our research will focus on studying more closely the molecular and biological effects of susceptibility gene mutations discovered in our previous studies and on uncovering additional breast cancer predisposing factors. The functional consequences of observed genomic lesions will also be assessed by using multiple disease modelling regimes. Our investigations will lead to increased knowledge of key molecular interactions, pathways and biological networks as well as the impact of susceptibility gene lesions on the biology of tumour development. The project is part of the Finnish Centre of Excellence Programme funded by the Academy of Finland (Centre of Excellence Grant 2012 - 2017, 251314).