Article
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
Journal of medical genetics - 1 May 2020
Houlleberghs Hellen, Dekker Marleen, Lusseveld Jarnick, Pieters Wietske, van Ravesteyn Thomas, Verhoef Senno, Hofstra Robert M W, Te Riele Hein
Abstract excerpt
BACKGROUND: Inactivating mutations in the MLH1 DNA mismatch repair (MMR) gene underlie 42% of Lynch syndrome (LS) cases. LS is a cancer predisposition causing early onset colorectal and endometrial cancer. Nonsense and frameshift alterations unambiguously cause LS. The phenotype of missense mutations that only alter a single amino acid is often unclear. These variants of uncertain significance (VUS) hinder LS...
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