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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.
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