Gene

NFE2L2

NFE2 like bZIP transcription factor 2

Explore in graph →CI-GENE-00016674HGNC:7782 ENSG00000116044 NCBI 4780 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (10)

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

civicCuratedShowing 1–10 of 10 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
NFE2L2 E79K1
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted

Cohorts

Alteration frequency by cohort (105)

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

cbioportalObserved105 cohort rows (showing 50, 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
Endometrial and Ovarian Cancer (MSK, Nature Medicine 2024) ucec_msk_2024	unmapped	Ssm	7	33

Literature

Linked publications (2)

25 per page, newest first.

pubmedPublishedShowing 1–2 of 2 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Role of KEAP1/NFE2L2 Mutations in the Chemotherapeutic Response of Patients with Non-Small Cell Lung Cancer.
· Clin Cancer Res · 2020 · PMID 31548347 · validated civic_curation pubmed
Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles.
· Cancer Discov · 2016 · PMID 27147599 · validated civic_curation pubmed

NFE2L2 E79Q1
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	1	submitted	EID10277 A fluorescence resonance energy transfer (FRET) assay was used to assess the interaction between the Nrf2 (NFE2L2) ETGE motif and the Keap1 Kelch binding domain. A peptide containing the E79Q mutation… (full text at CIViC) PMID 24130096 · Schaap et al., 2013 · Open in CIViC	civic

NFE2L2 E79Q1

(functional)

—UNRESOLVED

Functional

Supports Gain Of Function

submitted

EID10277

A fluorescence resonance energy transfer (FRET) assay was used to assess the interaction between the Nrf2 (NFE2L2) ETGE motif and the Keap1 Kelch binding domain. A peptide containing the E79Q mutation… (full text at CIViC)

PMID 24130096 · Schaap et al., 2013 · Open in CIViC

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NFE2L2 E82D1
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	1	submitted	EID9524 A fluorescence resonance energy transfer (FRET) assay was used to assess the interaction between the Nrf2 (NFE2L2) ETGE motif and the Keap1 Kelch binding domain. A peptide containing the E82D mutation… (full text at CIViC) PMID 24130096 · Schaap et al., 2013 · Open in CIViC	civic

NFE2L2 E82D1

(functional)

—UNRESOLVED

Functional

Supports Gain Of Function

submitted

EID9524

PMID 24130096 · Schaap et al., 2013 · Open in CIViC

civic

NFE2L2 G31A1
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	accepted	EID9574 The NFE2L2:p.G31A allele was expressed in HA1E-M cells and its tumorigenic potential was tested in a pooled and individual in vivo (mice) assay. The G31A mutation did not lead to tumor formation in th… (full text at CIViC) PMID 27147599 · Kim et al., 2016 · Open in CIViC	civic

NFE2L2 G31A1

(functional)

—UNRESOLVED

Functional

Supports Gain Of Function

accepted

EID9574

The NFE2L2:p.G31A allele was expressed in HA1E-M cells and its tumorigenic potential was tested in a pooled and individual in vivo (mice) assay. The G31A mutation did not lead to tumor formation in th… (full text at CIViC)

PMID 27147599 · Kim et al., 2016 · Open in CIViC

civic

NFE2L2 L30F1
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted	EID11047 NFE2L2 (Nrf2) mutation L30F was observed in lung squamous cell carcinoma. Expression of the L30F mutation in 293T cells showed it had significantly more transcriptional activation ability (P < 0.001) … (full text at CIViC) PMID 18757741 · Shibata et al., 2008 · Open in CIViC	civic

NFE2L2 L30F1

(functional)

—UNRESOLVED

Functional

Supports Gain Of Function

submitted

EID11047

NFE2L2 (Nrf2) mutation L30F was observed in lung squamous cell carcinoma. Expression of the L30F mutation in 293T cells showed it had significantly more transcriptional activation ability (P < 0.001) … (full text at CIViC)

PMID 18757741 · Shibata et al., 2008 · Open in CIViC

civic

NFE2L2 Mutation3
(oncogenic)	Squamous Cell Carcinoma	Oncogenic	B	Supports Oncogenicity	3	submitted	EID12559 In a mutational analysis of 1,145 primary cancers, NFE2L2 (NRF2) mutations occurred predominantly in squamous cell carcinomas (SCCs) of the esophagus (11.4%), skin (6.3%), lung (15.8%), and larynx (13… (full text at CIViC) PMID 19967722 · Kim et al., 2010 · Open in CIViC	civic
Sapanisertib	Lung Squamous Cell Carcinoma	Predictive	B	Supports Sensitivity Response	3	submitted	EID7425 In a phase 2 trial, patients with squamous cell lung carcinoma harboring NFE2L2 mutation were treated with oral TORC1/2 inhibitor TAK228. ORR 25% (1 PR, 3 SD, 0 PD). Open in CIViC	civic
〃	Lung Squamous Cell Carcinoma	Predictive	B	Supports Sensitivity Response	3	accepted	EID7446 In an NCI-CTEP phase 2 trial, patients with squamous cell lung carcinoma with NFE2L2 mutations were treated with TORC1/2 inhibitor TAK-228. The response rate was 29% (2/7）and disease control rate was … (full text at CIViC) Open in CIViC	civic

NFE2L2 Mutation3

(oncogenic)

Squamous Cell Carcinoma

Oncogenic

Supports Oncogenicity

submitted

EID12559

In a mutational analysis of 1,145 primary cancers, NFE2L2 (NRF2) mutations occurred predominantly in squamous cell carcinomas (SCCs) of the esophagus (11.4%), skin (6.3%), lung (15.8%), and larynx (13… (full text at CIViC)

PMID 19967722 · Kim et al., 2010 · Open in CIViC

civic

Sapanisertib

Lung Squamous Cell Carcinoma

Predictive

Supports Sensitivity Response

submitted

EID7425

In a phase 2 trial, patients with squamous cell lung carcinoma harboring NFE2L2 mutation were treated with oral TORC1/2 inhibitor TAK228. ORR 25% (1 PR, 3 SD, 0 PD).

Open in CIViC

civic

〃

Lung Squamous Cell Carcinoma

Predictive

Supports Sensitivity Response

accepted

EID7446

In an NCI-CTEP phase 2 trial, patients with squamous cell lung carcinoma with NFE2L2 mutations were treated with TORC1/2 inhibitor TAK-228. The response rate was 29% (2/7）and disease control rate was … (full text at CIViC)

Open in CIViC

civic

CUL3 Mutation + KEAP1 Mutation + NFE2L2 MutationNFE2L2 KEAP1 CUL31
Platinum Doublet	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	B	Supports Resistance	2	accepted	EID12558 In a retrospective study of stage IV NSCLC patients treated with first-line platinum doublet chemotherapy (n = 103; 51 KEAP1/NFE2L2/CUL3-mutant, 52 WT), mutations in NFE2L2, KEAP1, or CUL3 were associ… (full text at CIViC) PMID 31548347 · Jeong et al., 2020 · Open in CIViC	civic

CUL3 Mutation + KEAP1 Mutation + NFE2L2 MutationNFE2L2 KEAP1 CUL31

Platinum Doublet

Lung Non-Small Cell CarcinomaCURATED_BROADER

Predictive

Supports Resistance

accepted

EID12558

In a retrospective study of stage IV NSCLC patients treated with first-line platinum doublet chemotherapy (n = 103; 51 KEAP1/NFE2L2/CUL3-mutant, 52 WT), mutations in NFE2L2, KEAP1, or CUL3 were associ… (full text at CIViC)

PMID 31548347 · Jeong et al., 2020 · Open in CIViC

civic

NFE2L2 T80K1
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted	EID11046 NFE2L2 (Nrf2) mutation T80K was observed in lung squamous cell carcinoma. Expression of the T80K mutation in 293T cells showed it had significantly more transcriptional activation ability (P < 0.001) … (full text at CIViC) PMID 18757741 · Shibata et al., 2008 · Open in CIViC	civic

NFE2L2 T80K1

(functional)

—UNRESOLVED

Functional

Supports Gain Of Function

submitted

EID11046

NFE2L2 (Nrf2) mutation T80K was observed in lung squamous cell carcinoma. Expression of the T80K mutation in 293T cells showed it had significantly more transcriptional activation ability (P < 0.001) … (full text at CIViC)

PMID 18757741 · Shibata et al., 2008 · Open in CIViC

civic