JPS: Juvenile Polyposis Syndrome; PJS: Peutz-Jeghers Syndrome; Cowden Syndrome: CS; BRRS: Bannayan-Riley-Ruvalcaba Syndrome; FAP: Familial Adenomatous Polyposis; LS: Lynch Syndrome.
Figure 1: Different genetic pathways and the site of mutations in common genetic colorectal cancer syndromes. The overlap in genetic pathways is shown, particularly for hamartomatous polyposis syndromes (Peutz-Jeghers Syndrome, Juvenile Polyposis Syndrome, Cowden syndrome and Bannayan- Riley-Ruvalcaba Syndrome). Also shown is the indirect, downstream effect of the mutated APC gene on the TFG-β/SMAD4 pathway.