Understanding the aetiology of Serrated Polyposis Syndrome
Using the largest resource of individuals with Serrated Polyposis Syndrome (SPS) and their relatives collected, we have contributed to understanding the SPS phenotype and the molecular pathology features of polyps and CRCs in SPS patients. We have built upon evidence that SPS is a genetic condition demonstrating a substantial risk of CRC in relatives of SPS cases while also showing that genetic mutations in the known CRC- and polyposis-predisposing genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 do not commonly underlie SPS. This highlights that the underlying genetic predisposition for SPS is yet to be identified. Ongoing research will focus on exploring candidate genes identified from whole genome and whole exome sequencing.
[ Serrated Polyposis Syndrome webpage]
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