Gene

MEN1

menin 1

Explore in graph →CI-GENE-00012388HGNC:7010 ENSG00000133895 NCBI 4221 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
MEN1 FRAMESHIFT TRUNCATION1
(diagnostic)	Thyroid Gland Oncocytic CarcinomaALIAS	Diagnostic	C	Supports Positive	2	accepted	EID1695 Two patients diagnosed with oncocytic thyroid carcinoma (hurthle cell thyroid carcinoma) were evaluated for MEN1 mutations. One tumor showed 592-end deletion of MEN1 and the other showed a 521 frames… (full text at CIViC) PMID 25625803 · Kasaian et al., 2015 · Open in CIViC	civic
MEN1 G326D1
Revumenib + VTP-50469Substitutes	Acute Leukemia	Predictive	B	Supports Resistance	2	submitted	EID12737 Tumor DNA sequencing identified MEN1 mutations at several residues in the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified a total of 4 patients fro…

Cohorts

Alteration frequency by cohort (76)

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

cbioportalObserved76 cohort rows (showing 26, 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
MSK MetTropism (MSK, Cell 2021) msk_met_2021	unmapped	Ssm	388	25,775	1.5%

Literature

Linked publications (1)

25 per page, newest first.

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

MEN1 mutations in Hürthle cell (oncocytic) thyroid carcinoma.
· J Clin Endocrinol Metab · 2015 · PMID 25625803 · validated civic_curation pubmed

MEN1 G326R1
Revumenib + VTP-50469Substitutes	Acute Leukemia	Predictive	B	Supports Resistance	3	submitted	EID12734 Tumor DNA sequencing identified the MEN1 G326R (aka G331R) variant in one patient (#2, who also had a MEN1 M322I) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting fiv… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC	civic

MEN1 G326R1

Revumenib + VTP-50469Substitutes

Acute Leukemia

Predictive

Supports Resistance

submitted

EID12734

Tumor DNA sequencing identified the MEN1 G326R (aka G331R) variant in one patient (#2, who also had a MEN1 M322I) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting fiv… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

civic

MEN1 Loss-of-function1
JQ1	Neuroendocrine Tumor	Predictive	D	Supports Sensitivity Response	2	submitted	EID9249 Neuroendocrine tumors (NETs) of the pancreas (PNETs) and bronchus (BNETs) have mutations of the multiple endocrine neoplasia type 1 (MEN1) gene, which encodes menin that modifies histones by interacti… (full text at CIViC) PMID 28504695 · Lines et al., 2017 · Open in CIViC	civic

MEN1 Loss-of-function1

JQ1

Neuroendocrine Tumor

Predictive

Supports Sensitivity Response

submitted

EID9249

Neuroendocrine tumors (NETs) of the pancreas (PNETs) and bronchus (BNETs) have mutations of the multiple endocrine neoplasia type 1 (MEN1) gene, which encodes menin that modifies histones by interacti… (full text at CIViC)

PMID 28504695 · Lines et al., 2017 · Open in CIViC

civic

MEN1 M322I1
Revumenib + VTP-50469Substitutes	Acute Leukemia	Predictive	B	Supports Resistance	3	submitted	EID12730 Tumor DNA sequencing identified the MEN1 M322I (aka M327I) variant in two patients (#5 & 6) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified … (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC	civic

MEN1 M322I1

Revumenib + VTP-50469Substitutes

Acute Leukemia

Predictive

Supports Resistance

submitted

EID12730

Tumor DNA sequencing identified the MEN1 M322I (aka M327I) variant in two patients (#5 & 6) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified … (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

civic

MEN1 M322V1
Revumenib + VTP-50469Substitutes	Acute Leukemia	Predictive	D	Supports Resistance	2	submitted	EID12728 Tumor DNA sequencing identified the MEN1 M322V (aka M327V) variant in two patients (#1 & 3) with KMT2A rearranged AML on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targetin… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC	civic

MEN1 M322V1

Revumenib + VTP-50469Substitutes

Acute Leukemia

Predictive

Supports Resistance

submitted

EID12728

Tumor DNA sequencing identified the MEN1 M322V (aka M327V) variant in two patients (#1 & 3) with KMT2A rearranged AML on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targetin… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

civic

MEN1 Mutation1
Revumenib	Acute Leukemia	Predictive	B	Supports Resistance	4	submitted	EID12717 In follow up analyses of the AUGMENT-101 trial of revumenib in patients with acute leukemia, the authors identify MEN1 variants in bone marrow specimens obtained after treatment. These variants were n… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC	civic

MEN1 Mutation1

Revumenib

Acute Leukemia

Predictive

Supports Resistance

submitted

EID12717

In follow up analyses of the AUGMENT-101 trial of revumenib in patients with acute leukemia, the authors identify MEN1 variants in bone marrow specimens obtained after treatment. These variants were n… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

civic

MEN1 S155C1
VTP-50469	Acute Leukemia	Predictive	D	Supports Resistance	2	submitted	EID12742 The S155C (S160C) variant was detected in one of 22 patient derived xenograft of several AML models after long term treatment with the MENIN inhibitor VTP-50469. In this graft, it co-occured with a M… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC	civic

MEN1 S155C1

VTP-50469

Acute Leukemia

Predictive

Supports Resistance

submitted

EID12742

The S155C (S160C) variant was detected in one of 22 patient derived xenograft of several AML models after long term treatment with the MENIN inhibitor VTP-50469. In this graft, it co-occured with a M… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

civic

MEN1 S155T1
Revumenib + VTP-50469Substitutes	Acute Leukemia	Predictive	C	Supports Resistance	2	submitted	EID12741 Tumor DNA sequencing identified the MEN1 S155T (aka S160T) variant in one patient (#3, who also had a MEN1 M322V) on the AUGMENT-101 phase 1 trial of Revumenib. The S155T variant was NOT detected in a… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC	civic

MEN1 S155T1

Revumenib + VTP-50469Substitutes

Acute Leukemia

Predictive

Supports Resistance

submitted

EID12741

Tumor DNA sequencing identified the MEN1 S155T (aka S160T) variant in one patient (#3, who also had a MEN1 M322V) on the AUGMENT-101 phase 1 trial of Revumenib. The S155T variant was NOT detected in a… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

civic

MEN1 T344M1
Revumenib + VTP-50469Substitutes	Acute Leukemia	Predictive	B	Supports Resistance	4	submitted	EID12733 Tumor DNA sequencing identified the MEN1 T344M (aka T349M) variant in one patient (#4) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified a tot… (full text at CIViC) PMID 36922589 · Perner et al., 2023 · Open in CIViC	civic

MEN1 T344M1

Revumenib + VTP-50469Substitutes

Acute Leukemia

Predictive

Supports Resistance

submitted

EID12733

Tumor DNA sequencing identified the MEN1 T344M (aka T349M) variant in one patient (#4) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified a tot… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

civic