RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome

Gastroenterology. 2019 May;156(6):1924-1925.e4. doi: 10.1053/j.gastro.2019.01.248. Epub 2019 Jan 30.
No abstract available

Keywords: HNPCC; Lynch Syndrome; MSH2; RNA-Seq; Tandem Duplication.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA / analysis*
  • Exons
  • Gene Duplication*
  • Genetic Testing / methods*
  • Humans
  • MutS Homolog 2 Protein / genetics*
  • RNA / analysis*

Substances

  • RNA
  • DNA
  • MSH2 protein, human
  • MutS Homolog 2 Protein