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

doi:10.1038/hgv.2015.13

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

Hum Genome Var. 2015 Apr 16:2:15013. doi: 10.1038/hgv.2015.13. eCollection 2015.

Authors

Affiliations

¹ Cancer Research, The Canberra Hospital, Canberra, ACT, Australia; Gastroenterology and Hepatology Unit, The Canberra Hospital, Canberra, ACT, Australia.
² Translational Research Unit, Canberra Hospital , Canberra, ACT, Australia.
³ Department of Surgery, The Canberra Hospital , Canberra, ACT, Australia.
⁴ Gastroenterology and Hepatology Unit, The Canberra Hospital , Canberra, ACT, Australia.
⁵ Australian Phenomics Facility, Australian National University , Canberra, ACT, Australia.
⁶ Australian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
⁷ Translational Research Unit, Canberra Hospital, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, 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.

Grants and funding

U19 AI100627/AI/NIAID NIH HHS/United States