Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
Originalsprog | Engelsk |
---|---|
Tidsskrift | BMC Medical Genetics |
Vol/bind | 14 |
Sider (fra-til) | 103 |
ISSN | 1471-2350 |
DOI | |
Status | Udgivet - 2013 |
ID: 96632074