Ontology highlight
ABSTRACT:
SUBMITTER: Taupin D
PROVIDER: S-EPMC4785559 | biostudies-other | 2015
REPOSITORIES: biostudies-other
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]