Article
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS genetics - 1 May 2017
Houlleberghs Hellen, Goverde Anne, Lusseveld Jarnick, Dekker Marleen, Bruno Marco J, Menko Fred H, Mensenkamp Arjen R, Spaander Manon C W, Wagner Anja, Hofstra Robert M W, Te Riele Hein
Abstract excerpt
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that clearly abrogate MMR activity. However, missense mutations whose functional implications are unclear are also frequently seen in...
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