The serrated polyposis syndrome comprises multiple epithelial polyps in the colon and rectum of serrated histology. The serrated polyposis syndrome is associated with colorectal cancer risk. Recently, germline pathogenic variants in RNF43 have been proposed to underlie sessile serrated polyposis cancer syndrome (SSPCS). RNF43 encodes the RING-type E3 ubiquitin ligase that inhibits the Wnt pathway.
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuss S, Muller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ
タイトル
RNF43 pathogenic Germline variant in a family with colorectal cancer.
