SSPCS
MCID: SSS001
MIFTS: 21

Sessile Serrated Polyposis Cancer Syndrome (SSPCS)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Sessile Serrated Polyposis Cancer Syndrome

MalaCards integrated aliases for Sessile Serrated Polyposis Cancer Syndrome:

Name: Sessile Serrated Polyposis Cancer Syndrome 57 74 29 6
Sspcs 57 74
Syndrome, Cancer, Polyposis, Sessile Serrated 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
four patients have been reported (last curated september 2016)


HPO:

32
sessile serrated polyposis cancer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617108
MeSH 44 D003110

Summaries for Sessile Serrated Polyposis Cancer Syndrome

OMIM : 57 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 pineal, and related phenotype is serrated intestinal polyps.

UniProtKB/Swiss-Prot : 74 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.

Related Diseases for Sessile Serrated Polyposis Cancer Syndrome

Symptoms & Phenotypes for Sessile Serrated Polyposis Cancer Syndrome

Human phenotypes related to Sessile Serrated Polyposis Cancer Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 serrated intestinal polyps 32 HP:0032222

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
multiple sessile serrated polyps throughout the colon

Neoplasia:
colorectal carcinoma, susceptibility to (in some patients)
extracolonic cancers, susceptibility to (in some patients)

Clinical features from OMIM:

617108

Drugs & Therapeutics for Sessile Serrated Polyposis Cancer Syndrome

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

Genetic Tests for Sessile Serrated Polyposis Cancer Syndrome

Genetic tests related to Sessile Serrated Polyposis Cancer Syndrome:

# Genetic test Affiliating Genes
1 Sessile Serrated Polyposis Cancer Syndrome 29 RNF43

Anatomical Context for Sessile Serrated Polyposis Cancer Syndrome

MalaCards organs/tissues related to Sessile Serrated Polyposis Cancer Syndrome:

41
Colon, Pineal

Publications for Sessile Serrated Polyposis Cancer Syndrome

Articles related to Sessile Serrated Polyposis Cancer Syndrome:

(show all 20)
# Title Authors PMID Year
1
A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. 8 71
27081527 2015
2
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 8 71
24512911 2014
3
Yield of screening colonoscopy in first-degree relatives of patients with serrated polyposis syndrome. 8
24583756 2015
4
Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome. 8
20584785 2010
5
Age-related inflammation triggers skeletal stem/progenitor cell dysfunction. 38
30894483 2019
6
Aldehyde dehydrogenase 3A1 activation prevents radiation-induced xerostomia by protecting salivary stem cells from toxic aldehydes. 38
29794221 2018
7
Rigid Triple Endoscopy Improves Clinical Staging of Primary Head and Neck Cancer. 38
29402786 2018
8
Cross-Tissue Identification of Somatic Stem and Progenitor Cells Using a Single-Cell RNA-Sequencing Derived Gene Signature. 38
29044933 2017
9
Denoising of MR spectroscopic imaging data using statistical selection of principal components. 38
27260664 2016
10
Chondrogenesis in scleral stem/progenitor cells and its association with form-deprived myopia in mice. 38
25684979 2015
11
Transient activation of hedgehog pathway rescued irradiation-induced hyposalivation by preserving salivary stem/progenitor cells and parasympathetic innervation. 38
24150232 2014
12
Budd-Chiari syndrome revisited: 38 years' experience with surgical portal decompression. 38
22065317 2012
13
Identification of multipotent stem/progenitor cells in murine sclera. 38
21788434 2011
14
Stent angioplasty of narrowed portocaval shunt in Budd Chiari syndrome: a case report. 38
19117529 2009
15
Analysis of synaptic bodies in the Sprague-Dawley rat pineal gland under extreme photoperiods. 38
16978867 2007
16
TIPS is a useful long-term derivative therapy for patients with Budd-Chiari syndrome uncontrolled by medical therapy. 38
11786969 2002
17
A 27-year experience with surgical treatment of Budd-Chiari syndrome. 38
10973384 2000
18
Budd-Chiari syndrome caused by Behçet's disease: treatment by side-to-side portacaval shunt. 38
10195724 1999
19
Varieties of serous surface papillary carcinoma of the peritoneum in northern Germany: a thirty-year autopsy study. 38
8598333 1995
20
Acetanilide and paracetamol pharmacokinetics before and during phenytoin administration: genetic control of induction? 38
7272175 1981

Variations for Sessile Serrated Polyposis Cancer Syndrome

ClinVar genetic disease variations for Sessile Serrated Polyposis Cancer Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RNF43 NM_017763.5(RNF43): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs786205215 17:56440943-56440943 17:58363582-58363582
2 RNF43 NM_017763.5(RNF43): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic 17:56448310-56448310 17:58370949-58370949

Cosmic variations for Sessile Serrated Polyposis Cancer Syndrome:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM5613073 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.356G>A p.C119Y 17:58370930-58370930 0

Expression for Sessile Serrated Polyposis Cancer Syndrome

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

Pathways for Sessile Serrated Polyposis Cancer Syndrome

GO Terms for Sessile Serrated Polyposis Cancer Syndrome

Sources for Sessile Serrated Polyposis Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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