Article
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 4 Jun 2013
Drost Mark, Lützen Anne, van Hees Sandrine, Ferreira Daniel, Calléja Fabienne, Zonneveld José B M, Nielsen Finn Cilius, Rasmussen Lene Juel, de Wind Niels
Abstract excerpt
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 pathogenic, precludes targeted healthcare for both carriers and their relatives. To facilitate the identification...
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