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Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis

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  • IQ, RM-L and MT contributed equally.

  • Contributors LV conceived the study. LV, RM-L, MG and GC contributed to the study design. IQ, RM-L, MT, SB and PM performed the experiments. MN, VP, EG, ED, AS, JB and GC were responsible for the selection and recruitment of patients and for the accrual samples. LV wrote the manuscript with the assistance and final approval of all authors.

  • Funding This work was supported by the Spanish Ministry of Economy and Competitiveness, cofunded by FEDER funds – a way to build Europe – (grants SAF2016-80888-R and SAF2015-68016-R, and Juan de la Cierva postdoctoral fellowship (PM)); Instituto de Salud Carlos III (CIBERONC CB16/12/00234) and the Government of Catalonia (Pla estratègic de recerca i innovació en salut (PERIS) and 2014SGR338).

  • Competing interests None declared.

  • Ethics approval Ethics Committee of Institut d’Investigació Biomèdica de Bellvitge (IDIBELL).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement Experimental conditions, primer sequences and descriptive data of the studied patients are available upon request (