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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Drost, Mark, Lützen, Anne, van Hees, Sandrine, Ferreira, Daniel, Calléja, Fabienne, Zonneveld, José B. M., Nielsen, Finn Cilius, Rasmussen, Lene Juel, de Wind, Niels
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: National Academy of Sciences 2013
Gaiak:
Biological Sciences
Sarrera elektronikoa: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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