Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

N Engl J Med. 2015 Nov 12;373(20):1985-6. doi: 10.1056/NEJMc1506878.

Abstract

A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alleles
  • Carcinoma / genetics*
  • Colorectal Neoplasms / genetics*
  • Deoxyribonuclease (Pyrimidine Dimer) / genetics*
  • Female
  • Germ-Line Mutation*
  • Humans
  • Male
  • Neoplasms, Multiple Primary / genetics*
  • Pedigree
  • Phenotype

Substances

  • Deoxyribonuclease (Pyrimidine Dimer)
  • NTHL1 protein, human