ABSTRACT
The major genes associated with inherited susceptibility to breast cancer are BRCA1 and BRCA2. However, breast cancer is a component of other cancer susceptibility syndromes, including Li-Fraumeni syndrome (LFS), Cowden syndrome, Peutz-Jeghers
syndrome (PJS), and hereditary gastric cancer. LFS and Cowden disease, caused by
mutations in TP53 and PTEN, respectively, are discussed in Chapters 6 and 5. This chapter is divided into two major parts: (i) other rare familial cancer syndromes with breast cancer as a component and (ii) mutations in DNA damage response genes associated with an increased risk of breast cancer, notably in families with multiple
breast cancer cases.
