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

Isabel Quintana; Raquel Mejías-Luque; Mariona Terradas; Matilde Navarro; Virginia Piñol; Pilar Mur; Sami Belhadj; Elia Grau; Esther Darder; Ares Solanes; Joan Brunet; Gabriel Capellá; Markus Gerhard; Laura Valle

doi:10.1136/gutjnl-2017-315733

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

Gut. 2018 Dec;67(12):2230-2232. doi: 10.1136/gutjnl-2017-315733. Epub 2018 Jan 12.

Authors

Isabel Quintana^#^{1

2

3}, Raquel Mejías-Luque^#^{4

5}, Mariona Terradas^#^{1

2}, Matilde Navarro^{1

2

3}, Virginia Piñol^{6

7}, Pilar Mur^{1

2

3}, Sami Belhadj^{1

2

3}, Elia Grau^{1

2}, Esther Darder⁸, Ares Solanes⁹, Joan Brunet^{1

3

8}, Gabriel Capellá^{1

2

3}, Markus Gerhard^{4

5}, Laura Valle^{1

2

3}

Affiliations

¹ Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
² Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
³ Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
⁴ Institut für Medizinische Mikrobiologie, Immunologie und Hygiene, Technische Universität München, Munich, Germany.
⁵ German Centre for Infection Research (DZIF), Partner Site Munich, Munich, Germany.
⁶ Digestive Unit, Hospital Universitario de Girona Dr Josep Trueta, Girona, Spain.
⁷ School of Medicine, University of Girona, Girona, Spain.
⁸ Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGi, Girona, Spain.
⁹ Hereditary Cancer Program, Catalan Institute of Oncology, Badalona, Spain.

^# Contributed equally.

PMID: 29330307
DOI: 10.1136/gutjnl-2017-315733

No abstract available

Keywords: cancer genetics; cancer susceptibility; cancer syndromes; colonic polyps; mutation screening.

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Colonic Polyps*
DNA-Binding Proteins / genetics
Germ-Line Mutation*
Humans
Mutation
Oncogene Proteins / genetics
Ubiquitin-Protein Ligases

Substances

DNA-Binding Proteins
Oncogene Proteins
RNF43 protein, human
Ubiquitin-Protein Ligases