Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

PURPOSE: Variants in the DNA mismatch repair (MMR) gene MSH6, identified in individuals suspected of Lynch syndrome, are difficult to classify owing to the low cancer penetrance of defects in that gene. This not only obfuscates personalized health care but also the development of a rapid and reliabl...

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Detalles Bibliográficos
Autores principales: Drost, Mark, Tiersma, Yvonne, Glubb, Dylan, Kathe, Scott, van Hees, Sandrine, Calléja, Fabienne, Zonneveld, José B. M., Boucher, Kenneth M., Ramlal, Renuka P. E., Thompson, Bryony A., Rasmussen, Lene Juel, Greenblatt, Marc S., Lee, Andrea, Spurdle, Amanda B., Tavtigian, Sean V., de Wind, Niels
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200593/
https://www.ncbi.nlm.nih.gov/pubmed/31965077
http://dx.doi.org/10.1038/s41436-019-0736-2

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