Publication
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
Authors not recorded
Am J Med Genet A2012PMID 22628360stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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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
- genePTENcivic_curation1.00
- variantPTEN R173Ccivic_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
- 22628360
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| PTEN R173C1 | ||||||||
| (predisposing) | Obsolete PTEN Hamartoma Tumor SyndromeUNRESOLVED | Predisposing | C | Supports Predisposition | 3 | accepted | EID1935Hopman et al presents a case study with an affected proband carrying PTEN R173C, and meeting the pediatric criteria for PTEN testing of Tan et al (2011). The proband died at 2 years due to a fatal chy… (full text at CIViC) PMID 22628360 · Hopman et al., 2012 · Open in CIViC | civic |