The therapeutic significance of mutational signatures from DNA repair deficiency in cancer

Nat Commun. 2018 Aug 17;9(1):3292. doi: 10.1038/s41467-018-05228-y.

Abstract

Cancer is fundamentally a disease of the genome and inherited deficiencies in DNA repair pathways are well established to increase lifetime cancer risk. Computational analysis of pan-cancer data has identified signatures of mutational processes thought to be responsible for the pattern of mutations in any given cancer. These analyses identified altered DNA repair pathways in a much broader spectrum of cancers than previously appreciated with significant therapeutic implications. The development of DNA repair deficiency biomarkers is critical to the implementation of therapeutic targeting of repair-deficient tumors, using either DNA damaging agents or immunotherapy for the personalization of cancer therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA Damage / genetics
  • DNA Repair-Deficiency Disorders / genetics*
  • Humans
  • Immune System / pathology
  • Mutation / genetics*
  • Neoplasms / genetics*
  • Phenotype
  • Synthetic Lethal Mutations / genetics