ABSTRACT
This chapter reviews common hereditary cancer syndromes, potential for targeted therapy options from drugs already in development for other diseases, and the status of personalized targeted therapy for these patients. The targeted therapy options available for the hereditary cancer syndromes are divided into four categories based the properties of the agents: agents targeting the phosphoinositide-3-kinase (PI3K)/ Protein Kinase B (AKT)/ mammalian target of rapamycin (mTOR) pathway, agents targeting the RAS/RAF/MEK/ERK pathway, anti-angiogenics, and modulators of DNA repair mechanism. Defect in the PI3K/AKT/mTOR pathway includes Cowden syndrome, Proteus syndrome, Tuberous sclerosis complex, and neurofibromatosis 1 and 2. Defect in the RAS/RAF/MEK/ERK pathway includes RASopathies, and neurofibromatosis 1 and 2. Defect in angiogenesis includes von Hippel–Lindau disease. Defects in deoxybonucleic acid (DNA) repair mechanism include hereditary breast and ovarian cancer syndrome, Lynch syndrome, and Li–Fraumeni syndrome. Defect in growth factor regulation includes Gorlin syndrome.
