Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Studies of association of AGPAT6 variants with type 2 diabetes and related metabolic phenotypes in 12,068 Danes

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Identification of 3 novel VHL germ-line mutations in Danish VHL patients

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations
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

    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: 42316707