Gene

RARA

retinoic acid receptor alpha

Explore in graph →CI-GENE-00022965HGNC:9864 ENSG00000131759 NCBI 5914 Cancer geneApproved

Curated evidence

Clinical evidence (17)

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

civicCuratedShowing 1–17 of 17 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
RARA Fusion10
(diagnostic)	Acute Promyelocytic Leukemia	Diagnostic	A	Supports Positive	5	accepted	EID1090 The presence of the PML-RARa fusion protein is a diagnostic marker of Acute Promyelocytic Leukemia, or M3 AML. PMID 7628753 · Diverio et al., 1995 · Open in CIViC	civic
〃	Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARACURATED_BROADER	Diagnostic	B	Supports Positive	4	accepted	EID12333 In this study, the authors explored the role of retinoic acid receptor alpha (RARα) gene rearrangements in acute promyelocytic leukemia (APL) and their connection to the t(15;17) chromosomal transloca… (full text at CIViC) PMID 2170850 · de Thé et al., 1990 · Open in CIViC

Cohorts

Alteration frequency by cohort (46)

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

cbioportalObserved46 cohort rows · 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
Breast Fibroepithelial Tumors (Duke-NUS, Nat Genet 2015) bfn_duke_nus_2015	Breast Fibroepithelial Neoplasm	Ssm	5

Literature

Linked publications (11)

25 per page, newest first.

pubmedPublishedShowing 1–11 of 11 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

The PML/RAR alpha fusion gene in the diagnosis and monitoring of acute promyelocytic leukemia.
· Haematologica · 1995 · PMID 7628753 · validated civic_curation pubmed
All trans retinoic acid in acute promyelocytic leukemia.
· Oncogene · 2001 · PMID 11704842 · validated civic_curation pubmed
Accelerated degradation of PML-retinoic acid receptor alpha (PML-RARA) oncoprotein by all-trans-retinoic acid in acute promyelocytic leukemia: possible role of the proteasome pathway.
· Cancer Res · 1996 · PMID 8674046 · validated civic_curation pubmed
Varying responses of PML-RARA with different genetic mutations to arsenic trioxide.
· Blood · 2016 · PMID 26537301 · validated civic_curation

PML A216T + RARA FusionRARA PML1
Arsenic Trioxide	Acute Promyelocytic Leukemia	Predictive	B	Supports Resistance	4	submitted	EID8179 ive point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these patients was amplified using polymerase chain… (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC	civic

PML A216T + RARA FusionRARA PML1

Arsenic Trioxide

Acute Promyelocytic Leukemia

Predictive

Supports Resistance

submitted

EID8179

ive point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these patients was amplified using polymerase chain… (full text at CIViC)

PMID 26537301 · Liu et al., 2016 · Open in CIViC

civic

PML A216V + RARA FusionRARA PML2
Arsenic Trioxide	Acute Promyelocytic Leukemia	Predictive	B	Supports Resistance	4	accepted	EID8177 Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC	civic
Tretinoin	Acute Promyelocytic Leukemia	Predictive	C	Supports Resistance	4	accepted	EID1093 The mutation A216V in the B2 domain of PML in the PML-RARa fusion was seen in a patient with ATRA-resistant acute promyelocytic leukemia. PMID 21613260 · Goto et al., 2011 · Open in CIViC	civic

PML A216V + RARA FusionRARA PML2

Arsenic Trioxide

Acute Promyelocytic Leukemia

Predictive

Supports Resistance

accepted

EID8177

Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC)

PMID 26537301 · Liu et al., 2016 · Open in CIViC

civic

Tretinoin

Acute Promyelocytic Leukemia

Predictive

Supports Resistance

accepted

EID1093

The mutation A216V in the B2 domain of PML in the PML-RARa fusion was seen in a patient with ATRA-resistant acute promyelocytic leukemia.

PMID 21613260 · Goto et al., 2011 · Open in CIViC

civic

PML L218P + RARA FusionRARA PML1
Tretinoin	Acute Promyelocytic Leukemia	Predictive	C	Supports Resistance	3	accepted	EID1094 The PML L218P mutation in the PML-RARa fusion was observed in a patient with previously ATRA-treated, relapsed acute promyelocytic leukemia refractory to arsenic trioxide. PMID 21613260 · Goto et al., 2011 · Open in CIViC	civic

PML L218P + RARA FusionRARA PML1

Tretinoin

Acute Promyelocytic Leukemia

Predictive

Supports Resistance

accepted

EID1094

The PML L218P mutation in the PML-RARa fusion was observed in a patient with previously ATRA-treated, relapsed acute promyelocytic leukemia refractory to arsenic trioxide.

PMID 21613260 · Goto et al., 2011 · Open in CIViC

civic

RARA Fusion + PML S214LRARA PML1
Arsenic Trioxide	Acute Promyelocytic Leukemia	Predictive	B	Supports Resistance	4	submitted	EID8178 Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC	civic

RARA Fusion + PML S214LRARA PML1

Arsenic Trioxide

Acute Promyelocytic Leukemia

Predictive

Supports Resistance

submitted

EID8178

PMID 26537301 · Liu et al., 2016 · Open in CIViC

civic

RARA Fusion2
(diagnostic)	Acute Promyelocytic Leukemia	Diagnostic	C	Supports Positive	2	submitted	EID12613 The authors report a case of a 6-year-old child with leukemia and the clinical and morphologic characteristics of acute promyelocytic leukemia (APL), but without evidence of the expected t(15;17) or a… (full text at CIViC) PMID 34432867 · Astolfi et al., 2021 · Open in CIViC	civic
〃	Acute Promyelocytic Leukemia	Diagnostic	C	Supports Positive	2	submitted	EID12627 The authors report a TTMV-RARA (viral fusion) in a 39-year-old patient with leukemia and blasts that were APL-like with increased promyelocytes. The fusion was identified by targeted long read sequenc… (full text at CIViC) PMID 35420676 · Sala-Torra et al., 2022 · Open in CIViC	civic

RARA Fusion2

(diagnostic)

Acute Promyelocytic Leukemia

Diagnostic

Supports Positive

submitted

EID12613

The authors report a case of a 6-year-old child with leukemia and the clinical and morphologic characteristics of acute promyelocytic leukemia (APL), but without evidence of the expected t(15;17) or a… (full text at CIViC)

PMID 34432867 · Astolfi et al., 2021 · Open in CIViC

civic

〃

Acute Promyelocytic Leukemia

Diagnostic

Supports Positive

submitted

EID12627

The authors report a TTMV-RARA (viral fusion) in a 39-year-old patient with leukemia and blasts that were APL-like with increased promyelocytes. The fusion was identified by targeted long read sequenc… (full text at CIViC)

PMID 35420676 · Sala-Torra et al., 2022 · Open in CIViC

civic