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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Genet Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group US 2020
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7200593/
https://ncbi.nlm.nih.gov/pubmed/31965077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0736-2
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars