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Gene

NF2

NF2 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (19), Actionable biomarkers (44), Trial mentions (189), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000186575 UniProt P35240 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 19 Actionable biomarkers Actionable biomarkers 44 Trial mentions Trial mentions 189 Target-disease associations Target-disease associations 456 Vendor sourcing Vendor sourcing 622 Trial-cited literature Trial-cited literature 149 Protein variant mentions Protein variant mentions 69 Human sample screening reference Human sample screening reference 4 Assay-provider ledger Assay-provider ledger 19 Actionable biomarkers Actionable biomarkers 44 Trial mentions Trial mentions 189 Target-disease associations Target-disease associations 456 Vendor sourcing Vendor sourcing 622 Trial-cited literature Trial-cited literature 149 Protein variant mentions Protein variant mentions 69 Human sample screening reference Human sample screening reference 4

Rows recorded per section (log scale)

2 more sections with rows · 2 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention NF2. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers. Not plotted: 4 with no date at all.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 5 at the structurally incomplete recent edge.

The yearly numbers
NF2 per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 6 of 8,738 0.07% not measured
2025 9 of 8,875 0.10% not measured
2024 12 of 8,597 0.14% not measured
2023 8 of 8,275 0.10% 8 of 11,460 0.07%
2022 8 of 8,285 0.10% 8 of 13,598 0.06%
2021 7 of 8,692 0.08% 27 of 15,045 0.18%
2020 8 of 7,640 0.10% 10 of 14,459 0.07%
2019 5 of 7,300 0.07% 13 of 12,159 0.11%
2018 11 of 6,927 0.16% 11 of 11,854 0.09%
2017 10 of 6,558 0.15% 4 of 11,595 0.03%

Assay-provider ledger (19)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Cell Signaling Technology Reagent supplier Clinical validation 2 December 01, 2025
ROCHE DIAGNOSTICS Context dependent Clinical validation 1 December 01, 2025
Illumina Unclassified Clinical validationAnalytical validation 4 June 21, 2025
QIAGEN Reagent supplier Clinical validationAnalytical validation 1 June 21, 2025
Thermo Fisher Reagent supplier Clinical validationAnalytical validation 2 June 21, 2025

Actionable biomarkers (44)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
NF2 oncogenic mutation Chemotherapy response-associated breast adenocarcinoma Cancer Genome Interpreter
NF2 oncogenic mutation Tensirolimus response-associated breast adenocarcinoma Cancer Genome Interpreter
NF2 deletion Tensirolimus response-associated breast adenocarcinoma Cancer Genome Interpreter
NF2 deletion Chemotherapy response-associated breast adenocarcinoma Cancer Genome Interpreter
NF2 deletion + EGFR oncogenic mutation Erlotinib responsive lung carcinoma Cancer Genome Interpreter

Trial mentions (189)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT01024946 Trial eligibility (AACT)
NCT04439331 Trial eligibility (AACT)
NCT05684692 Trial eligibility (AACT)
NCT07391150 Trial eligibility (AACT)
NCT02934256 Trial eligibility (AACT)

Target-disease associations (456)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
APC-related attenuated familial adenomatous polyposis cancer or benign tumor Mouse knockout (IMPC)
Acute Leukemia cancer or benign tumor Mouse knockout (IMPC)
Adrenal Gland Neuroblastoma cancer or benign tumor Cancer Gene Census
Anal Squamous Cell Carcinoma cancer or benign tumor Cancer Gene Census
Anaplastic (Malignant) Meningioma cancer or benign tumor Cancer Gene Census

Vendor sourcing (622)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through nonse... View ClinVar record SCV004013622.1
AHS Cancer Control Alberta Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : Boys and girls (n = 90) between 8 - 12 years of age with a sex- and age-specific BMI ≥95th percentile are eligible for this study. Children are referred to... View trial NCT01267097
AHS Cancer Control Alberta Trial collaborator Mentioned in trial textTrial free-text mention SCH View trial NCT01267097
ALK-Abelló (Denmark) Trial sponsor Primary endpoint in a Phase 3 trialTrial endpoint Number of Participants With Treatment-emergent Adverse Events (AEs) View trial NCT01469182
ALK-Abelló (Denmark) Trial sponsor Mentioned in trial textTrial free-text mention SCH View trial NCT01469182

Trial-cited literature (149)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Abemaciclib in meningiomas with somatic NF2 or CDK pathway alterations: the phase 2 Alliance A071401 trial. Nature medicine 2026 1
Regorafenib versus local standard of care in patients with grade 2-3 meningioma no longer eligible for loco-regional treatments: a phase II randomized controlled trial (the MIRAGE study). Trials 2025 1
Social support moderates quality of life outcomes during a mind-body intervention among adults with neurofibromatosis. Journal of neuro-oncology 2025 0
Brigatinib in <i>NF2</i>-Related Schwannomatosis with Progressive Tumors. The New England journal of medicine 2024 60
Phase II Study of Defactinib (VS6063) in Patients With Tumors With <i>NF2</i> Loss: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol U. JCO precision oncology 2024 5

Protein variant mentions (69)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A13N 1 2021 PMID 34667843
p.A199T 1 2015 PMID 25741868
p.A238V 1 2015 PMID 25741868
p.A2S 1 2015 PMID 25741868
p.D277E 1 2015 PMID 25741868

Human sample screening reference (4)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.S288* HCMI-CMDC Ductal and Lobular Neoplasms; Complex Mixed and Stromal Neoplasms; Blood Vessel Tumors; Fibromatous Neoplasms; Epithelial Neoplasms, NOS; Mature T- and NK-Cell Lymphomas; Transitional Cell Papillomas and Carcinomas; Complex Epithelial Neoplasms; Squamous Cell Neoplasms; Soft Tissue Tumors and Sarcomas, NOS; Lymphoid Leukemias; Cystic, Mucinous and Serous Neoplasms; Gliomas; Myomatous Neoplasms; Neuroepitheliomatous Neoplasms; Malignant Lymphomas, NOS or Diffuse; Acinar Cell Neoplasms; Osseous and Chondromatous Neoplasms; Synovial-like Neoplasms; Miscellaneous Bone Tumors; Nevi and Melanomas; Adenomas and Adenocarcinomas; Other and unspecified parts of tongue; Stomach; Bronchus and lung; Larynx; Uterus, NOS; Kidney; Esophagus; Other and ill-defined sites; Skin; Colon; Thyroid gland; Bladder; Adrenal gland; Eye and adnexa; Gallbladder; Connective, subcutaneous and other soft tissues; Rectosigmoid junction; Breast; Pancreas; Small intestine; Corpus uteri; Other and unspecified parts of mouth; Liver and intrahepatic bile ducts; Nasal cavity and middle ear; Hematopoietic and reticuloendothelial systems; Brain; Other and unspecified parts of biliary tract; Bones, joints and articular cartilage of other and unspecified sites; Rectum; Unknown; Lymph nodes; Ovary 1 606 0.17% 0.03% to 0.93%
p.S288* TCGA-HNSC Squamous Cell Neoplasms; Base of tongue; Lip; Gum; Hypopharynx; Palate; Other and ill-defined sites in lip, oral cavity and pharynx; Bones, joints and articular cartilage of other and unspecified sites; Other and unspecified parts of tongue; Floor of mouth; Tonsil; Other and unspecified parts of mouth; Oropharynx; Larynx 1 528 0.19% 0.03% to 1.06%
p.S288* TCGA-LUAD Cystic, Mucinous and Serous Neoplasms; Ductal and Lobular Neoplasms; Acinar Cell Neoplasms; Adenomas and Adenocarcinomas; Bronchus and lung 1 573 0.17% 0.03% to 0.98%
p.S288* TCGA-OV Not Reported; Cystic, Mucinous and Serous Neoplasms; Ovary; Retroperitoneum and peritoneum 1 603 0.17% 0.03% to 0.93%

Literature-extracted relations (61)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Quinacrine Chemical associate Quinacrine Has Preferential Anticancer Effects on Mesothelioma Cells With Inactivating NF2 Mutations. 2021
Sirolimus Chemical negative_correlate mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma. 2014
BEVACIZUMAB Chemical negative_correlate Bevacizumab treatment for meningiomas in NF2: a retrospective analysis of 15 patients. 2013
Ranolazine Chemical negative_correlate Clinical features and outcomes of women with unstable ischemic heart disease: observations from metabolic efficiency with ranolazine for less ischemia in non-ST-elevation acute coronary syndromes-thrombolysis in myocardial infarction 36 (MERLIN-TIMI 36). 2010
BEVACIZUMAB Chemical negative_correlate Bevacizumab induces regression of vestibular schwannomas in patients with neurofibromatosis type 2. 2010

Organizations publishing (187)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Mass General Brigham Hospital 26 2009 to 2025
Memorial Sloan Kettering Cancer Center Hospital 12 2012 to 2026
Harvard Medical School Academic 10 2012 to 2023
Government of the United States of America Government 9 2014 to 2024
The University of Texas System Academic 7 2015 to 2022

Where NF2 appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • immune system disease
  • infectious disease
  • integumentary system disease
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype

377 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.

Browse all biomarker evidence pages