Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

Gastroenterology. 2020 Dec;159(6):2241-2243.e6. doi: 10.1053/j.gastro.2020.08.042. Epub 2020 Aug 26.
No abstract available

Keywords: Base Excision Repair; Colorectal Cancer; Mutation Carrier; Tumor Mutational Signatures.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Colonic Polyps / epidemiology
  • Colonic Polyps / genetics*
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics*
  • Deoxyribonuclease (Pyrimidine Dimer) / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Loss of Function Mutation
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide

Substances

  • Deoxyribonuclease (Pyrimidine Dimer)
  • NTHL1 protein, human