Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

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 abrogat...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460888/
https://www.ncbi.nlm.nih.gov/pubmed/28531214
http://dx.doi.org/10.1371/journal.pgen.1006765

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460888/
https://www.ncbi.nlm.nih.gov/pubmed/28531214
http://dx.doi.org/10.1371/journal.pgen.1006765

Ejemplares similares