Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.
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ABSTRACT:
SUBMITTER: Schubert SA
PROVIDER: S-EPMC7689793 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Publications
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.
Schubert Stephanie A SA Ruano Dina D Tiersma Yvonne Y Drost Mark M de Wind Niels N Nielsen Maartje M van Hest Liselotte P LP Morreau Hans H de Miranda Noel F C C NFCC van Wezel Tom T
Genes, chromosomes & cancer 20200702
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 MSH6 variants of uncertain significance and MUTYH variants has been suggested to predispose to Lynch syndrome-associated cancers; however, cosegregation with disease in the familial setting has not ye ...[more]
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