Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

Over 20% of the DNA mismatch repair (MMR) germline variants in suspected Lynch syndrome patients are classified as variants of uncertain significance (VUS). Well-established functional assays are pivotal for assessing the biological impact of these variants and provide relevant evidence for clinical...

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Detalles Bibliográficos
Autores principales: Morak, Monika, Pineda, Marta, Martins, Alexandra, Gaildrat, Pascaline, Tubeuf, Hélène, Drouet, Aurélie, Gómez, Carolina, Dámaso, Estela, Schaefer, Kerstin, Steinke-Lange, Verena, Koehler, Udo, Laner, Andreas, Hauchard, Julie, Chauris, Karine, Holinski-Feder, Elke, Capellá, Gabriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437034/
https://www.ncbi.nlm.nih.gov/pubmed/35676339
http://dx.doi.org/10.1038/s41431-022-01106-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437034/
https://www.ncbi.nlm.nih.gov/pubmed/35676339
http://dx.doi.org/10.1038/s41431-022-01106-w

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