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

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

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.

Bibliographic Details
Main Authors: Taupin, Douglas, Lam, Wesley, Rangiah, David, McCallum, Larissa, Whittle, Belinda, Zhang, Yafei, Andrews, Daniel, Field, Matthew, Goodnow, Christopher C, Cook, Matthew C
Format: Online
Language:English
Published: Nature Publishing Group 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785559/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785559/

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