Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome

In many individuals suspected of the common cancer predisposition Lynch syndrome, variants of unclear significance (VUS), rather than an obviously pathogenic mutations, are identified in one of the DNA mismatch repair (MMR) genes. The uncertainty of whether such VUS inactivate MMR, and therefore are...

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Détails bibliographiques
Auteurs principaux: Drost, Mark, Lützen, Anne, van Hees, Sandrine, Ferreira, Daniel, Calléja, Fabienne, Zonneveld, José B. M., Nielsen, Finn Cilius, Rasmussen, Lene Juel, de Wind, Niels
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 2013
Sujets:
Biological Sciences
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3677471/
https://ncbi.nlm.nih.gov/pubmed/23690608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1220537110
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