Genetic determinants of breast cancer risk

Abstract Breast cancer is the most common malignancy among women. Approximately 25% of hereditary breast cancer cases can explained by rare pathogenic variants in a small number of moderate-high penetrance predisposition genes, and at least another 20% by common, low-risk variants. Next-generation sequencing and new risk prediction methods are providing more personalized options for breast cancer risk assessment. However, realizing the full clinical potential of the underlying genetics requires accurate inference of pathogenicity, comprehensive integration of all known risk factors and a better understanding of underlying biology. Here, we will discuss known and candidate breast cancer susceptibility variants, outline some of the available genetic risk assessment tools and highlight recent publications identifying and functionally characterizing variants associated with breast cancer.