Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome

Phenotypic characterization and familial risk in hyperplastic polyposis syndrome

“…We assumed 1/3000 as the estimated prevalence of HPS in general population [2] and 29.1/3000 to be the CRC-estimated prevalence in Portuguese population [18].…”

“…Carcinogenesis in serrated pathway involves a CpG island methylator phenotype (CIMP) and mutation of oncogene BRAF [8,10,11]. Although there are families with several affected members, suggesting a genetic predisposition [2,3,5] no specific genes were identified so far. The pattern of inheritance seems to be autosomal recessive [5].…”

“…An increased cancer risk in patients with multiple serrated polyps was reported [2,10,11] especially if they are large, atypical, dysplastic or located proximally [4,7,10,11]. Carcinogenesis in serrated pathway involves a CpG island methylator phenotype (CIMP) and mutation of oncogene BRAF [8,10,11].…”

“…HPS patients with FDR, who seem to be at higher risk for HPS and CCR than the general population, [2,17], should also be included in surveillance programs. Our aim is to determine the relative risk of HPS and CRC in FDR compared to our general population and to analyze the effect of genetics versus environment in HPS.…”

“…Patients typically have multiple and large hyperplastic polyps (HPs) proximal to the sigmoid colon [2,3] . Different types of serrated polyps as HPs, sessile serrated adenomas (SSAs), traditional serrated adenomas (TSAs) and mixed polyps (MPs) are associated with HPS [3][4][5][6][7] .…”