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

Research output: Contribution to journalJournal articleResearchpeer-review

Sanne M 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

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
JournalBMC medical genetics
Volume14
Pages (from-to)103
ISSN1471-2350
DOIs
StatePublished - 2013

    Research areas

  • 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

ID: 96632074