Personalized medicine in hereditary cancer syndromes

The exponential increase in cancer genetics research in the last two decades has unraveled genetic mutations which could be inherited. The presence of these aberrations in the germline predispose an affected individual to benign or malignant tumors. These genetic aberrations often manifest early in life and typically affect children, adolescents, and young adults (AYA) in the prime of their lives. Affected individuals often have more than one malignancy. More than fifty such hereditary cancer predisposing syndromes have been identified so far. Better understanding of cancer genetics has also helped deciphering the molecular aberrations and pathways leading to cancer in hereditary cancer syndromes. In the era of targeted 200therapy, when several novel agents have now been approved for various malignancies, a door has opened for patients suffering from hereditary cancer syndrome. In spite of better understanding of molecular pathways in hereditary cancer syndromes, the development of targeted therapies has lagged behind in this group of patients. The rarity of these syndromes and inability to build clinical trials in rare subsets of patients and paucity of participation in clinical trials could be one possible reason behind the lack of targeted therapy development in these patients.