Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

Germline variants affecting the exonuclease domains of POLE and POLD1 predispose to multiple colorectal adenomas and/or colorectal cancer (CRC). The aim of this study was to estimate the prevalence of previously described heterozygous germline variants POLE c.1270C>G, p.(Leu424Val) and POLD1 c.14...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Elsayed, Fadwa A, Kets, C Marleen, Ruano, Dina, van den Akker, Brendy, Mensenkamp, Arjen R, Schrumpf, Melanie, Nielsen, Maartje, Wijnen, Juul T, Tops, Carli M, Ligtenberg, Marjolijn J, Vasen, Hans FA, Hes, Frederik J, Morreau, Hans, van Wezel, Tom
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4351893/
https://ncbi.nlm.nih.gov/pubmed/25370038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.242
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