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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

Lynch syndrome (LS) is one of the most common hereditary cancer predisposition syndromes worldwide. Individuals with LS have a high risk of developing colorectal or endometrial cancer, as well as several other cancers. LS is caused by autosomal dominant pathogenic variants in one of the DNA mismatch...

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Detalles Bibliográficos
Autores principales: Frederiksen, Jane H., Jensen, Sara B., Tümer, Zeynep, Hansen, Thomas v. O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395337/
https://www.ncbi.nlm.nih.gov/pubmed/34445333
http://dx.doi.org/10.3390/ijms22168627