Breast cancer is the most common malignancy in women, and it is strongly influenced by hereditary risk factors. The known predisposing alleles explain less than half of the hereditary component, leaving the causal factor for majority of breast cancer families unknown. The search for additional predisposing factors and understanding their effect on disease onset and behavior remains therefore critical. Here, these factors are searched for using different genomic approaches, high-throughput sequencing and optical genome mapping, in high-risk breast cancer cases. The molecular genetics and biology behind the inherited predisposition, their role in getting the disease and treatment response, are investigated using genomics, functional genomics, biochemical and tumor modelling approaches. Improved knowledge on predisposing alleles and their function increase the understanding of the etiology of breast cancer, refine clinical risk assessment and promote development of personalized treatment.

2024

2028