Optical Genome Mapping in Unexplained High-Risk Breast Cancer Families

Breast cancer is the most common malignancy among women and the contribution of hereditary susceptibility to its development has been well recognized. However, the known genetic risk factors still explain less than half of the familial risk of the disease. Here, the planned research aims to elucidate genetic risk factors of breast cancer by utilizing optical mapping technology for genome-wide and high-resolution detection of structural variants. The study consists of ~100 high-risk breast cancer cases that have undergone diagnostic gene panel and/or research-based exome sequencing without any pathogenic variants identified in the well-established breast cancer susceptibility genes. The main aim of the project is to assess the frequency of hidden structural variants in the known breast cancer genes and to investigate whether a more complete picture of structural genomic variation in unexplained high-risk breast cancer cases could reveal novel susceptibility genes.