Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Sanne Petersen, Mette Dandanell, Lene J Rasmussen, Anne-Marie Gerdes, Lotte Nylandsted Krogh, Inge Bernstein, Henrik Okkels, Friedrik Wikman, Finn C Nielsen, Thomas V O Hansen

18 Citations (Scopus)

Abstract

Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.
Original languageEnglish
JournalB M C Medical Genetics
Volume14
Pages (from-to)e103
ISSN1471-2350
DOIs
Publication statusPublished - 2013

Keywords

  • Adaptor Proteins, Signal Transducing
  • Colorectal Neoplasms
  • DNA-Binding Proteins
  • Denmark
  • European Continental Ancestry Group
  • Genetic Counseling
  • Humans
  • Introns
  • MutS Homolog 2 Protein
  • Mutation
  • Nuclear Proteins
  • RNA Splice Sites

Fingerprint

Dive into the research topics of 'Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients'. Together they form a unique fingerprint.

Cite this