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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Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: National Academy of Sciences 2013
Fag:
Biological Sciences
Online adgang: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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