Sessile Serrated Polyposis Cancer Syndrome (SSPCS)

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OMIM 58 617108 MeSH 45 D003110

MedGen 43 C4310714 CN238478 SNOMED-CT via HPO 70 263681008

OMIM : ⁵⁸ Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene (164757), or less commonly in the KRAS gene (190070), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by Gala et al., 2014). (617108)

MalaCards based summary : Sessile Serrated Polyposis Cancer Syndrome, is also known as sspcs. An important gene associated with Sessile Serrated Polyposis Cancer Syndrome is RNF43 (Ring Finger Protein 43). Affiliated tissues include colon, and related phenotype is serrated intestinal polyps.

UniProtKB/Swiss-Prot : ⁷⁶ Sessile serrated polyposis cancer syndrome: A rare disease characterized by multiple and/or large serrated polyps developing in the colon, and an increased personal and familial risk of colorectal cancer. A patient is diagnosed with SSPCS if at least one of the following criteria is met: the presence of at least five sessile serrated polyps proximal to the sigmoid colon, two of which are greater than 10 mm in diameter; the presence of any number of serrated polyps occurring proximal to the sigmoid colon in an individual who has a first-degree relative with serrated polyposis; the presence of more than 20 serrated polyps of any size distributed throughout the colon. Sessile serrated polyps are also known as sessile serrated adenomas (SSA) and are estimated to be responsible for 20 to 35% of all colon cancers. Individuals with SSPCS may have a strong personal or family history of extracolonic cancers.

Clinical features from OMIM:

617108

Search Clinical Trials , NIH Clinical Center for Sessile Serrated Polyposis Cancer Syndrome

Search GEO for disease gene expression data for Sessile Serrated Polyposis Cancer Syndrome.