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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Bibliografiska uppgifter
Huvudupphovsmän: Drost, Mark, Lützen, Anne, van Hees, Sandrine, Ferreira, Daniel, Calléja, Fabienne, Zonneveld, José B. M., Nielsen, Finn Cilius, Rasmussen, Lene Juel, de Wind, Niels
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 2013
Ämnen:
Biological Sciences
Länkar: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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