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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Foilsithe in:Eur J Hum Genet
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group 2016
Ábhair:
Short Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070903/
https://ncbi.nlm.nih.gov/pubmed/26648449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.252
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