Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

Many suspected Lynch Syndrome (sLS) patients who lack mismatch repair (MMR) germline gene variants and MLH1 or MSH2 hypermethylation are currently explained by somatic MMR gene variants or, occasionally, by germline POLE variants. To further investigate unexplained sLS patients, we analyzed leukocyt...

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Detalles Bibliográficos
Autores principales: Jansen, Anne ML, van Wezel, Tom, van den Akker, Brendy EWM, Ventayol Garcia, Marina, Ruano, Dina, Tops, Carli MJ, Wagner, Anja, Letteboer, Tom GW, Gómez-García, Encarna B, Devilee, Peter, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070903/
https://www.ncbi.nlm.nih.gov/pubmed/26648449
http://dx.doi.org/10.1038/ejhg.2015.252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070903/
https://www.ncbi.nlm.nih.gov/pubmed/26648449
http://dx.doi.org/10.1038/ejhg.2015.252

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