5-Fluorouracil treatment induces characteristic T>G mutations in human cancer

Nat Commun. 2019 Oct 8;10(1):4571. doi: 10.1038/s41467-019-12594-8.

Abstract

5-Fluorouracil (5-FU) is a chemotherapeutic drug commonly used for the treatment of solid cancers. It is proposed that 5-FU interferes with nucleotide synthesis and incorporates into DNA, which may have a mutational impact on both surviving tumor and healthy cells. Here, we treat intestinal organoids with 5-FU and find a highly characteristic mutational pattern that is dominated by T>G substitutions in a CTT context. Tumor whole genome sequencing data confirms that this signature is also identified in vivo in colorectal and breast cancer patients who have received 5-FU treatment. Taken together, our results demonstrate that 5-FU is mutagenic and may drive tumor evolution and increase the risk of secondary malignancies. Furthermore, the identified signature shows a strong resemblance to COSMIC signature 17, the hallmark signature of treatment-naive esophageal and gastric tumors, which indicates that distinct endogenous and exogenous triggers can converge onto highly similar mutational signatures.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Biopsy
  • Carcinogenesis / drug effects*
  • Carcinogenesis / genetics
  • Cell Culture Techniques
  • Cell Line
  • Clinical Trials as Topic
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Fluorouracil / adverse effects*
  • Humans
  • Intestines / cytology
  • Male
  • Middle Aged
  • Models, Genetic
  • Mutation Rate
  • Neoplasms / drug therapy
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Organoids
  • Point Mutation / drug effects*
  • Polymorphism, Single Nucleotide / drug effects
  • Stem Cells
  • Transcriptome / drug effects*
  • Transcriptome / genetics
  • Whole Genome Sequencing
  • Young Adult

Substances

  • Fluorouracil