Publication
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Authors not recorded
Hum Mol Genet1998PMID 9811934stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
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Linked entities
Linked entities (2)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 2
- geneSMAD4civic_curation1.00
- variantSMAD4 R361Ccivic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 9811934
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| SMAD4 R361C1 | ||||||||
| (predisposing) | Juvenile Polyposis SyndromeUNRESOLVED | Predisposing | C | Supports Predisposition | 1 | accepted | EID6446The goal of this study was to find out if there was a link between the mutation of SMAD4 and Juvenile polyposis syndrome (JPS). Eight families of JPS were analyzed and there was no evidence of linkage… (full text at CIViC) PMID 9811934 · Houlston et al., 1998 · Open in CIViC | civic |