SSPCS
MCID: SSS001
MIFTS: 15

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 58 76 30 6
Sspcs 58 76
Syndrome, Cancer, Polyposis, Sessile Serrated 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
sessile serrated polyposis cancer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617108
MeSH 45 D003110
SNOMED-CT via HPO 70 263681008

Summaries for Sessile Serrated Polyposis Cancer Syndrome

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.

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.

Related Diseases for Sessile Serrated Polyposis Cancer Syndrome

Symptoms & Phenotypes for Sessile Serrated Polyposis Cancer Syndrome

Symptoms via clinical synopsis from OMIM:

58
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 30 RNF43

Anatomical Context for Sessile Serrated Polyposis Cancer Syndrome

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

42
Colon

Publications for Sessile Serrated Polyposis Cancer Syndrome

Variations for Sessile Serrated Polyposis Cancer Syndrome

ClinVar genetic disease variations for Sessile Serrated Polyposis Cancer Syndrome:

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

Cosmic variations for Sessile Serrated Polyposis Cancer Syndrome:

9 (show all 15)
# 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
2 COSM5613075 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.144C>G p.I48M 17:58415434-58415434 0
3 COSM5613067 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.79C>T p.R27C 17:58415499-58415499 0
4 COSM5613071 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.238G>A p.G80R 17:58415340-58415340 0
5 COSM5613078 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.122C>A p.S41* 17:58415456-58415456 0
6 COSM532 KRAS large intestine,colon,serrated polyp,serrated adenoma c.38G>A p.G13D 12:25245347-25245347 0
7 COSM520 KRAS large intestine,colon,serrated polyp,serrated adenoma c.35G>T p.G12V 12:25245350-25245350 0
8 COSM517 KRAS large intestine,colon,serrated polyp,serrated adenoma c.34G>A p.G12S 12:25245351-25245351 0
9 COSM516 KRAS large intestine,colon,serrated polyp,serrated adenoma c.34G>T p.G12C 12:25245351-25245351 0
10 COSM521 KRAS large intestine,colon,serrated polyp,serrated adenoma c.35G>A p.G12D 12:25245350-25245350 0
11 COSM27895 GNAS large intestine,colon,serrated polyp,serrated adenoma c.602G>A p.R201H 20:58909366-58909366 0
12 COSM459 BRAF large intestine,colon,serrated polyp,serrated adenoma c.1406G>T p.G469V 7:140781602-140781602 0
13 COSM476 BRAF large intestine,colon,serrated polyp,serrated adenoma c.1799T>A p.V600E 7:140753336-140753336 0
14 COSM19021 APC large intestine,colon,serrated polyp,serrated adenoma c.4330C>T p.Q1444* 5:112839924-112839924 0
15 COSM13127 APC large intestine,colon,serrated polyp,serrated adenoma c.4348C>T p.R1450* 5:112839942-112839942 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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