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A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.


ABSTRACT: We report a germline nonsense mutation within the extracellular domain of the RING finger ubiquitin ligase RNF43, segregating with a severe form of serrated polyposis within a kindred. The finding provides evidence that inherited RNF43 mutations define a familial cancer syndrome.

SUBMITTER: Taupin D 

PROVIDER: S-EPMC4785559 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.

Taupin Douglas D   Lam Wesley W   Rangiah David D   McCallum Larissa L   Whittle Belinda B   Zhang Yafei Y   Andrews Daniel D   Field Matthew M   Goodnow Christopher C CC   Cook Matthew C MC  

Human genome variation 20150416


We report a germline nonsense mutation within the extracellular domain of the RING finger ubiquitin ligase RNF43, segregating with a severe form of serrated polyposis within a kindred. The finding provides evidence that inherited RNF43 mutations define a familial cancer syndrome. ...[more]

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