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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Publicat a:Genes Chromosomes Cancer
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Brief Reports
Accés en línia: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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