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

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

Hum Genome Var

Translational Research Unit, Canberra Hospital, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.

Published: April 2016

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785559	PMC
http://dx.doi.org/10.1038/hgv.2015.13	DOI Listing

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