Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer

We describe a family severely affected by colorectal cancer (CRC) where whole‐exome sequencing identified the coinheritance of the germline variants encoding MSH6 p.Thr1100Met and MUTYH p.Tyr179Cys in, at least, three CRC patients diagnosed before 60 years of age. Digenic inheritance of monoallelic...

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Detalhes bibliográficos
Publicado no:Genes Chromosomes Cancer
Main Authors: Schubert, Stephanie A., Ruano, Dina, Tiersma, Yvonne, Drost, Mark, de Wind, Niels, Nielsen, Maartje, van Hest, Liselotte P., Morreau, Hans, de Miranda, Noel F. C. C., van Wezel, Tom
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7689793/
https://ncbi.nlm.nih.gov/pubmed/32615015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gcc.22883
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