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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7689793/
https://www.ncbi.nlm.nih.gov/pubmed/32615015
http://dx.doi.org/10.1002/gcc.22883

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