Serrated polyposis syndrome (SPS) is a clinical entity characterized by large and multiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). Serrated polyps are considered CRC precursor lesions. Despite recent results in CRC genome-wide studies, the germline predisposition of SPS remains largely unknown. This study is the first to evaluate the association between CRC risk genetic variants and SPS susceptibility. Our results showed significant associations for seven genetic variants including one located in the GREM1 gene, previously involved in hereditary mixed polyposis. These results could be used to identify a subgroup of individuals with increased SPS/CRC risk and modulate population-based prevention measures. (By Dr. Sergi Castellví-Bel, https://jmg.bmj.com/content/early/2020/03/13/jmedgenet-2019-106374 )
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
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