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sessile serrated polyposis cancer syndrome (SSPCS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sessile serrated polyposis cancer syndrome

MONDO:0014919

Also known as:SSPCSsessile serrated polyposis cancer syndrome; SSPCS

Overview

GeneticsAutosomal dominant · RNF43 (chr 17)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include: Serrated intestinal polyps.

Organ System	Phenotype Count	Example Features
Digestive system	1	Serrated intestinal polyps

Explore clinical features

Genetic Landscape

RNF43 function has not been fully characterized.

Sessile serrated polyposis cancer syndrome is caused by mutations in the RNF43 gene on chromosome 17.

Diagnosis

Genetic testing for RNF43 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for sessile serrated polyposis cancer syndrome.

8 publications have been identified in PubMed for sessile serrated polyposis cancer syndrome. Research spans Epidemiology / Natural History (38%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).

Recent Publications

Meseeha M (2026). [PMID: 28613512](https://pubmed.ncbi.nlm.nih.gov/28613512/). *Unknown Journal*. [Review / Meta-Analysis]
Church J (2025). [PMID: 40192136](https://pubmed.ncbi.nlm.nih.gov/40192136/). *Diseases of the colon and rectum*. [Epidemiology / Natural History]
Hori H (2025). [PMID: 40643790](https://pubmed.ncbi.nlm.nih.gov/40643790/). *Clinical journal of gastroenterology*. [Basic Science / Preclinical]
Ferenczi Á (2025). [PMID: 40089942](https://pubmed.ncbi.nlm.nih.gov/40089942/). *Orvosi hetilap*. [Case Report / Case Series]
Williams H (2025). [PMID: 40838154](https://pubmed.ncbi.nlm.nih.gov/40838154/). *World journal of gastrointestinal endoscopy*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617108

Questions for Your Care Team

→Should I pursue genetic testing for RNF43, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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sessile serrated polyposis cancer syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team