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Serrated polyposis syndrome (SPS) is characterised by the occurrence of multiple serrated polyps in the large bowel. Defined clinically by the 2010 revised WHO, SPS is associated with an increased risk of colorectal cancer (CRC) for affected individuals and their first-degree relatives. Yan et al1 recently reported their findings from whole-exome sequencing (WES) of six individuals with SPS from four families, identifying a single family carrying a germline likely pathogenic variant in RNF43 (c.953-1 G>A, c.953_954delAG, p.E318fs). In this family, six carriers were identified, five of whom met the WHO criteria for SPS. This adds to two previous reports of germline mutations within RNF43 in individuals with SPS or who developed multiple serrated polyps.2 ,3 The current study by Yan et al1 also importantly showed loss of second wildtype allele in 16 serrated polyps, five adenomatous polyps, and in the rectal adenocarcinoma from carriers through somatic single nucleotide variants or loss of heterozygosity, adding further weight to a potential role of RNF43 in the development of colonic serrated neoplasia.
We present …
Contributors All authors of this research paper have directly participated in the planning, execution or analysis of the study, and have approved the final version submitted. We would like to acknowledge the contributions of the participants of the Genetics of Colonic Polyposis Study, staff from the FCCs from across Australia, New Zealand, Canada and Ohio, USA who contributed to patient recruitment and the Biorepository staff from the Genetic Epidemiology Laboratory.
Funding This work was supported by Cancer Council Queensland project grant (GNT1006290). CR is the Jeremy Jass Pathology Fellow, MAJ is an NHMRC Senior Research Fellow and DDB is a University of Melbourne Research at Melbourne Accelerator Program Senior Research Fellow.
Disclaimer Authors had full responsibility for the design of the study, the collection of the data, the analysis and interpretation of the data, the decision to submit the manuscript for publication and the writing of the manuscript.
Competing interests None declared.
Ethics approval University of Melbourne Human Research Ethics Committee.
Provenance and peer review Not commissioned; internally peer reviewed.