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Updated: Mar 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred
Douglas Taupin1, Wesley Lam2, David Rangiah3
1Cancer Research, The Canberra Hospital, Canberra, ACT, Australia; Gastroenterology and Hepatology Unit, The Canberra Hospital, Canberra, ACT, Australia.
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.
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