Gene

RUNX1

RUNX family transcription factor 1

Explore in graph →CI-GENE-00029659HGNC:10471 ENSG00000159216 NCBI 861 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (23)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–23 of 23 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
RUNX1 Fusion5
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1ALIAS	Diagnostic	A	Supports Positive

Cohorts

Alteration frequency by cohort (108)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved108 cohort rows (showing 8, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Germ Cell Tumors (MSK, J Clin Oncol 2016) gct_msk_2016	unmapped	Ssm	1	180	0.6%

Literature

Linked publications (12)

25 per page, newest first.

pubmedPublishedShowing 1–12 of 12 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
· Blood · 2016 · PMID 27069254 · validated civic_curation pubmed
RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group.
· J Clin Oncol · 2011 · PMID 21343560 · validated civic_curation pubmed
The molecular profile of adult T-cell acute lymphoblastic leukemia: mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL.
· Genes Chromosomes Cancer · 2013 · PMID 23341344 · validated civic_curation pubmed
RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures.

RUNX1 A107P1
(predisposing)	Acute Myeloid LeukemiaCURATED_BROADER	Predisposing	C	Supports Predisposition	5	accepted	EID1876 A pedigree of 3 generations and 8 individuals with familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) was assessed for mutation in RUNX1 exons 3, 4, 5 and 6. Mutation was fo… (full text at CIViC) PMID 12060124 · Walker et al., 2002 · Open in CIViC	civic

RUNX1 A107P1

(predisposing)

Acute Myeloid LeukemiaCURATED_BROADER

Predisposing

Supports Predisposition

accepted

EID1876

A pedigree of 3 generations and 8 individuals with familial platelet disease with propensity to acute myeloid leukemia (FPD/AML) was assessed for mutation in RUNX1 exons 3, 4, 5 and 6. Mutation was fo… (full text at CIViC)

PMID 12060124 · Walker et al., 2002 · Open in CIViC

RUNX1 Mutation7
(prognostic)	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	4	accepted	EID429 In 878 non-APL patients with AML, those who had mutations in RUNX1 (N=53) had higher rates of refractory disease than those without (30% versus 19%; P = 0.047). PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC	civic
〃	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	4	accepted	EID430 In 878 non-APL patients with AML (18-60 years), those who had mutations in RUNX1 (N=53) had shorter event-free survival (8% vs 30%, P<0.0001) and relapse-free survival (26% vs 44%, P=0.022) relative t… (full text at CIViC) PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC	civic
〃	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	4	accepted	EID509 In a study of patients with cytogenically normal acute myeloid leukemia, RUNX1 mutations were more frequent in patients 60 years old or older. Patients with RUNX1 mutations had shorter disease-free (y… (full text at CIViC) PMID 22753902 · Mendler et al., 2012 · Open in CIViC	civic
〃	Myelodysplastic SyndromeCURATED_BROADER	Prognostic	B	Supports Poor Outcome	4	submitted	EID6944 In a study of 439 patients with myelodysplastic syndrome, patients with RUNX1 mutations (N=38) has worse overall survival than wildtype patients (N=401) (P<0.001 univariate). This difference was also … (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC	civic
〃	Acute Lymphoblastic Leukemia	Prognostic	B	Supports Poor Outcome	3	accepted	EID508 In univariate analysis, mutations in RUNX1 were significantly associated with shorter overall survival compared to wildtype RUNX1 in adult (18-87 years old) T-cell acute lymphoblastic leukemia (N=9 mu… (full text at CIViC) PMID 23341344 · Grossmann et al., 2013 · Open in CIViC	civic
〃	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	3	accepted	EID1558 In patients with acute myeloid leukemia, those with RUNX1 mutations (n=245) had significantly worse outcomes when compared to those with RUNX1 wild-type alleles (n=2,194). The complete remission rate… (full text at CIViC) PMID 27137476 · Gaidzik et al., 2016 · Open in CIViC	civic
Cytarabine	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	B	Supports Resistance	4	accepted	EID411 In non-APL patients with AML (age 18-60), those who had mutations in RUNX1 had significantly shorter relapse-free survival following conventional post-remission treatment (repetitive cycles of high-do… (full text at CIViC) PMID 21343560 · Gaidzik et al., 2011 · Open in CIViC	civic