Current Systemic Treatments for the Hereditary Cancer Syndromes: Drug Development in Light of Genomic Defects

Am Soc Clin Oncol Educ Book. 2022 Apr:42:1-17. doi: 10.1200/EDBK_350232.

Abstract

Advances in the genetic basis of different tumors have led to identification of tumor vulnerabilities that can be turn into targeted therapies. In this regard, PARP inhibitors cause synthetic lethality with tumors harboring BRCA1 or BRCA2 genetic alterations. On the other hand, tumors with microsatellite instability, either due to germline or sporadic alterations, are candidates for immune checkpoint inhibitors. Finally, patients with von Hippel-Lindau disease who carry a germline alteration in the VHL gene may benefit form belzutifan, a hypoxia-inducible factor 2 alpha inhibitor. Overall, research on the underlying pathological mechanisms of these tumors has provided new therapeutic opportunities that might be expanded to other sporadic tumors with similar biology.

MeSH terms

  • Drug Development
  • Genomics
  • Humans
  • Mutation
  • Neoplastic Syndromes, Hereditary* / drug therapy
  • Neoplastic Syndromes, Hereditary* / genetics
  • von Hippel-Lindau Disease* / genetics
  • von Hippel-Lindau Disease* / pathology
  • von Hippel-Lindau Disease* / therapy