MCID: SSS001
MIFTS: 13

Sessile Serrated Polyposis Cancer Syndrome

Categories: Genetic diseases, Cancer 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 75 29 6
Sspcs 57 75

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
SNOMED-CT via HPO 69 263681008

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.

UniProtKB/Swiss-Prot : 75 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:

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

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 RNF43, ARG113TER undetermined variant Pathogenic

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 6
2 COSM5613075 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.144C>G p.I48M 17:58415434-58415434 6
3 COSM5613067 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.79C>T p.R27C 17:58415499-58415499 6
4 COSM5613071 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.238G>A p.G80R 17:58415340-58415340 6
5 COSM5613078 RNF43 large intestine,colon,serrated polyp,serrated adenoma c.122C>A p.S41* 17:58415456-58415456 6
6 COSM516 KRAS large intestine,colon,serrated polyp,serrated adenoma c.34G>T p.G12C 12:25245351-25245351 6
7 COSM532 KRAS large intestine,colon,serrated polyp,serrated adenoma c.38G>A p.G13D 12:25245347-25245347 6
8 COSM520 KRAS large intestine,colon,serrated polyp,serrated adenoma c.35G>T p.G12V 12:25245350-25245350 6
9 COSM517 KRAS large intestine,colon,serrated polyp,serrated adenoma c.34G>A p.G12S 12:25245351-25245351 6
10 COSM521 KRAS large intestine,colon,serrated polyp,serrated adenoma c.35G>A p.G12D 12:25245350-25245350 6
11 COSM27895 GNAS large intestine,colon,serrated polyp,serrated adenoma c.602G>A p.R201H 20:58909366-58909366 6
12 COSM476 BRAF large intestine,colon,serrated polyp,serrated adenoma c.1799T>A p.V600E 7:140753336-140753336 6
13 COSM459 BRAF large intestine,colon,serrated polyp,serrated adenoma c.1406G>T p.G469V 7:140781602-140781602 6
14 COSM19021 APC large intestine,colon,serrated polyp,serrated adenoma c.4330C>T p.Q1444* 5:112839924-112839924 6
15 COSM13127 APC large intestine,colon,serrated polyp,serrated adenoma c.4348C>T p.R1450* 5:112839942-112839942 6

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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