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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2020
Fag:
Brief Reports
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker