Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome

The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low‐penetrance gene for the cancer predisposition Lynch syndrome, represent variants of uncertain significance (VUS). The inability to classify most VUS interferes with personalized healthcare. The co...

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Detalles Bibliográficos
Autores principales: Rayner, Emily, Tiersma, Yvonne, Fortuno, Cristina, van Hees‐Stuivenberg, Sandrine, Drost, Mark, Thompson, Bryony, Spurdle, Amanda B., de Wind, Niels
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545740/
https://www.ncbi.nlm.nih.gov/pubmed/35451539
http://dx.doi.org/10.1002/humu.24387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545740/
https://www.ncbi.nlm.nih.gov/pubmed/35451539
http://dx.doi.org/10.1002/humu.24387

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