title: A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.
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.
authors.affiliation: Cancer Research, The Canberra Hospital, Canberra, ACT, Australia; Gastroenterology and Hepatology Unit, The Canberra Hospital, Canberra, ACT, Australia.
authors.forename: Douglas
authors.initials: D
authors.lastname: Taupin
authors.affiliation: Translational Research Unit, Canberra Hospital , Canberra, ACT, Australia.
authors.forename: Wesley
authors.initials: W
authors.lastname: Lam
authors.affiliation: Department of Surgery, The Canberra Hospital , Canberra, ACT, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Rangiah
authors.affiliation: Gastroenterology and Hepatology Unit, The Canberra Hospital , Canberra, ACT, Australia.
authors.forename: Larissa
authors.initials: L
authors.lastname: McCallum
authors.affiliation: Australian Phenomics Facility, Australian National University , Canberra, ACT, Australia.
authors.forename: Belinda
authors.initials: B
authors.lastname: Whittle
authors.affiliation: Australian Phenomics Facility, Australian National University , Canberra, ACT, Australia.
authors.forename: Yafei
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Australian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
authors.forename: Daniel
authors.initials: D
authors.lastname: Andrews
authors.affiliation: Australian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
authors.forename: Matthew
authors.initials: M
authors.lastname: Field
authors.affiliation: Australian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
authors.forename: Christopher C
authors.initials: CC
authors.lastname: Goodnow
authors.affiliation: Translational Research Unit, Canberra Hospital, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Cook