Grant: Project Grant

Personalized risk assessment can improve prevention and reduce breast cancer mortality by identifying those women at higher risk of the disease. Women at increased risk of breast cancer can be identified by taking into consideration genetic and lifestyle/hormonal risk factors. The current known breast cancer genes explain less than half of the heritability of the disease, raising the possibility that other important susceptibility genes remain to be identified. Moreover, multi-gene panel tests for breast cancer currently include some genes with unproven association. The increasing number of genes in these panels has also led to the detection of an increasing number of variants whose association with the disease is not well established, creating difficulties to the clinician in terms of interpretation. The proposed project will study large cohorts of women using high throughput genomic technologies together with statistical and epidemiological methods, in order to validate and characterize new breast cancer susceptibility genes which have been identified by our recent large-scale sequencing study. This information will be incorporated into the online CanRisk risk prediction tool currently used worldwide in clinical practice, and contribute to improving risk assessment of the disease as well as improving genetic counselling and management. Results of our project will also contribute to the understanding of the underlying biological mechanisms of breast cancer and may thereby suggest novel therapeutic approaches.