Publication
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (5)
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 5
- cancerAcute Myeloid Leukemiacivic_curation1.00
- geneRUNX1civic_curation1.00
- variantRUNX1 K83Ecivic_curation1.00
- variantRUNX1 R135FSX177civic_curation1.00
- variantRUNX1 Y260*civic_curation1.00
Curated evidence
Evidence citing this paper (3)
- 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
- 11830488
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| RUNX1 K83E1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 4 | accepted | EID1871A pedigree of 48 individuals with multiple instances of bleeding and platelet disorders and 8 cases of leukemia showed an A>G substitution in RUNX1 exon 3 which segregated with Familial Platelet Disor… (full text at CIViC) PMID 11830488 · Michaud et al., 2002 · Open in CIViC | civic |
| RUNX1 R135FSX1771 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 4 | accepted | EID1873A pedigree (Pedigree number 2) with familial platelet disorder and acute myeloid leukemia (FPD/AML) was studied and a one-base deletion was found in RUNX1 splice donor site. This resulted in use of a … (full text at CIViC) PMID 11830488 · Michaud et al., 2002 · Open in CIViC | civic |
| RUNX1 Y260*1 | ||||||||
| (predisposing) | Acute Myeloid LeukemiaCURATED_BROADER | Predisposing | C | Supports Predisposition | 3 | accepted | EID1872A pedigree (Pedigree number 3) with 24 members with multiple instances of bleeding disorder and three cases of familial leukemia showed a C>A substitution in exon 7B of the transcription factor RUNX1.… (full text at CIViC) PMID 11830488 · Michaud et al., 2002 · Open in CIViC | civic |