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

Taupin, Douglas; Lam, Wesley; Rangiah, David; McCallum, Larissa; Whittle, Belinda; Zhang, Yafei; Andrews, Daniel; Field, Matthew; Goodnow, Christopher; Cook, Matthew

Description

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.

CollectionsANU Research Publications
Date published: 2015
Type: Journal article
URI: http://hdl.handle.net/1885/164874
Source: Human Genome Variation
DOI: 10.1038/hgv.2015.13
Access Rights: Open Access

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