Article Text

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis
  1. Isabel Quintana1,2,3,
  2. Raquel Mejías-Luque4,5,
  3. Mariona Terradas1,2,
  4. Matilde Navarro1,2,3,
  5. Virginia Piñol6,7,
  6. Pilar Mur1,2,3,
  7. Sami Belhadj1,2,3,
  8. Elia Grau1,2,
  9. Esther Darder8,
  10. Ares Solanes9,
  11. Joan Brunet1,3,8,
  12. Gabriel Capellá1,2,3,
  13. Markus Gerhard4,5,
  14. Laura Valle1,2,3
  1. 1Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
  2. 2Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
  3. 3Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain
  4. 4Institut für Medizinische Mikrobiologie, Immunologie und Hygiene, Technische Universität München, Munich, Germany
  5. 5German Centre for Infection Research (DZIF), Partner Site Munich, Munich, Germany
  6. 6Digestive Unit, Hospital Universitario de Girona Dr Josep Trueta, Girona, Spain
  7. 7School of Medicine, University of Girona, Girona, Spain
  8. 8Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGi, Girona, Spain
  9. 9Hereditary Cancer Program, Catalan Institute of Oncology, Badalona, Spain
  1. Correspondence to Dr Laura Valle, Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat, Barcelona 08908, Spain; lvalle{at}

Statistics from

We read with interest the work by Yan et al published in Gut.1 The serrated (hyperplastic) polyposis syndrome (SPS) is a heterogeneous disease defined by the presence of multiple serrated polyps throughout the colon,2 causing an increased risk (16%) of colorectal cancer (CRC).3 By performing whole-exome sequencing in 20 SPS families, Gala et al identified a germline mutation, c.338C>A (p.R113*), in the RING-type E3 ubiquitin ligase RNF43, an inhibitor of the Wnt pathway, in two independent families.4 The c.394C>T (p.R132*) mutation was subsequently identified in two SPS-affected members of one family, supporting a causal role in SPS.5 In the study by Yan et al whole-exome sequence analysis of four SPS families identified a deleterious germline mutation, c.953–1G>A (p.E318fs), in six members of one family, five fulfilling the WHO criteria for SPS.1 Buchanan et al assessed the mutation status of RNF43 in 74 selected SPS families, identifying two rare missense variants, c.443C>G (p.A148G) and c.640C>G (p.L214V), predicted deleterious by in silico algorithms, in two families. No carriers of p.R113* or p.R132* were detected in 221 additional patients with SPS.6

Mutation screening of RNF43 was carried out by Sanger sequencing in …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.