Gene
NF1
NF1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (23), Actionable biomarkers (87), Trial mentions (323), and 7 more evidence types, each linked to its source.
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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.
Evidence over time
Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention NF1. 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: 3 with a planned future start and 2 with no date at all.
Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 3 dated before 1990 and 33 at the structurally incomplete recent edge.
The yearly numbers
| Year | Trial mentions | Share of that year | Publication mentions | Share of that year |
|---|---|---|---|---|
| 2026 | 15 of 8,738 | 0.17% | not measured | |
| 2025 | 24 of 8,875 | 0.27% | not measured | |
| 2024 | 21 of 8,597 | 0.24% | not measured | |
| 2023 | 18 of 8,275 | 0.22% | 50 of 11,460 | 0.44% |
| 2022 | 25 of 8,285 | 0.30% | 53 of 13,598 | 0.39% |
| 2021 | 30 of 8,692 | 0.35% | 86 of 15,045 | 0.57% |
| 2020 | 15 of 7,640 | 0.20% | 50 of 14,459 | 0.35% |
| 2019 | 18 of 7,300 | 0.25% | 46 of 12,159 | 0.38% |
| 2018 | 19 of 6,927 | 0.27% | 39 of 11,854 | 0.33% |
| 2017 | 13 of 6,558 | 0.20% | 48 of 11,595 | 0.41% |
Showing 10 of 37 years.
Assay-provider ledger (23)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| Tempus AI Inc | Diagnostic provider | Clinical validation | 1 | January 01, 2025 |
| Advpharma, Inc | Unclassified | Clinical validationAnalytical validation | 2 | April 24, 2023 |
| Promega | Reagent supplier | Clinical validationAnalytical validation | 1 | April 24, 2023 |
| ROCHE | Context dependent | Clinical validationAnalytical validation | 2 | April 24, 2023 |
| Foundation Medicine | Diagnostic provider | Clinical validationAnalytical validation | 6 | December 01, 2021 |
Showing 5 of 23 assay-provider companies.
Actionable biomarkers (87)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| NF1 deletion | Pan-raf Inhibitor + Mek Inhibitors | response-associated | cutaneous melanoma | Cancer Genome Interpreter |
| NF1 biallelic inactivation | Vemurafenib | responsive | cutaneous melanoma | Cancer Genome Interpreter |
| NF1 oncogenic mutation | Pd1 Ab Inhibitors | response-associated | cutaneous melanoma | Cancer Genome Interpreter |
| NF1 deletion + BRAF oncogenic mutation | Vemurafenib | responsive | cutaneous melanoma | Cancer Genome Interpreter |
| NF1 oncogenic mutation | Trametinib | response-associated | cutaneous melanoma | Cancer Genome Interpreter |
Showing 5 of 87 actionable-biomarker assertions.
Trial mentions (323)
Shown in this order: fixed catalogue order, not by date.
| Trial | Source |
|---|---|
| NCT03757247 | Trial biospecimen (AACT) |
| NCT02343224 | Trial eligibility (AACT) |
| NCT02840409 | Trial eligibility (AACT) |
| NCT07032727 | Trial eligibility (AACT) |
| NCT07539441 | Trial eligibility (AACT) |
Showing 5 of 323 trial mentions.
Target-disease associations (1,196)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| 17q11 microdeletion syndrome | disorder of visual system | Mouse knockout (IMPC) |
| 22q11.2 deletion syndrome | cardiovascular disease | Mouse knockout (IMPC) |
| 46,XX ovotesticular disorder of sex development | endocrine system disease | Mouse knockout (IMPC) |
| 46,XX testicular disorder of sex development | endocrine system disease | Mouse knockout (IMPC) |
| 46,XY complete gonadal dysgenesis | cardiovascular disease | Mouse knockout (IMPC) |
Showing 5 of 1,196 associations.
Vendor sourcing (1,220)
Shown in this order: alphabetical by organization.
| 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 observed at an extremely low frequency in the gnomAD v4.1.0 dataset (total allele frequency: <0.001%). Predicted Consequence/Location: Canonic... | View ClinVar record SCV002011926.3 |
| ARUP Laboratories (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The NF1 c.662G>A; p.Trp221Ter variant (rs1131691126, ClinVar Variation ID: 429007) is reported in the literature in an individual with neurofibromatosis type... | View ClinVar record SCV000604532.3 |
| AbbVie Inc. | Trial collaborator | Named in trial inclusion criteriaTrial eligibility criteria | : * Ability to comprehend the investigational nature of the study and provide informed consent (i.e., participant or legally authorized representative \[LAR... | View trial NCT06504459 |
| AbbVie Inc. | Trial collaborator | Mentioned in trial textTrial free-text mention | NF1 | View trial NCT06504459 |
| Adlai Nortye Biopharma Co., Ltd. | Trial sponsor | Named in trial inclusion criteriaTrial eligibility criteria | : 1. Aged ≥18 years old at the time of informed consent. 2. Able to provide informed consent voluntarily before any study-related activities and according t... | View trial NCT07252479 |
Showing 5 of 1,220 sourcing records.
Trial-cited literature (696)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| Pharmacokinetics and Safety of Selumetinib Granule Formulation in Children With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas (SPRINKLE; phase I/II). | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2026 | 2 |
| Precision Medicine Program in Chinese Pediatric Patients With Sarcoma. | JCO precision oncology | 2026 | 0 |
| ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma. | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2025 | 83 |
| Efficacy and safety of selumetinib in adults with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas (KOMET): a multicentre, international, randomised, placebo-controlled, parallel, double-blind, phase 3 study. | Lancet (London, England) | 2025 | 33 |
| A phase 2 PBTC study of selumetinib for recurrent/progressive pediatric low-grade glioma: Strata 2, 5, and 6 with long-term outcomes on strata 1, 3, and 4. | Neuro-oncology | 2025 | 13 |
Showing 5 of 696 papers.
Protein variant mentions (770)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.A1081G | 1 | 2015 | PMID 25741868 |
| p.A1202S | 1 | 2015 | PMID 25741868 |
| p.A1228V | 1 | 2015 | PMID 25741868 |
| p.A131V | 1 | 2015 | PMID 25741868 |
| p.A1417S | 1 | 2015 | PMID 25741868 |
Showing 5 of 770 variants.
Human sample screening reference (6)
Shown in this order: alphabetical by variant.
| Variant | GDC project | Disease / site | Affected cases | Profiled cases | Observed frequency | 95% interval |
|---|---|---|---|---|---|---|
| p.F5L | CCDI-MCI | Cystic, Mucinous and Serous Neoplasms; Granular Cell Tumors and Alveolar Soft Part Sarcomas; Specialized Gonadal Neoplasms; Neoplasms, NOS; Adenomas and Adenocarcinomas; Gliomas; Meningiomas; Acinar Cell Neoplasms; Odontogenic Tumors; Soft Tissue Tumors and Sarcomas, NOS; Nevi and Melanomas; Malignant Lymphomas, NOS or Diffuse; Epithelial Neoplasms, NOS; Thymic Epithelial Neoplasms; Other and unspecified parts of mouth; Rectosigmoid junction; Thyroid gland; Connective, subcutaneous and other soft tissues; Peripheral nerves and autonomic nervous system; Other endocrine glands and related structures; Retroperitoneum and peritoneum; Vagina; Other and ill-defined digestive organs; Pancreas; Renal pelvis; Bladder; Nasal cavity and middle ear; Meninges; Adrenal gland; Bones, joints and articular cartilage of limbs; Bones, joints and articular cartilage of other and unspecified sites; Breast; Skin; Thymus; Esophagus; Other and ill-defined sites in lip, oral cavity and pharynx; Larynx; Other and unspecified urinary organs; Brain; Testis; Heart, mediastinum, and pleura; Rectum; Nasopharynx; Palate; Prostate gland; Base of tongue; Accessory sinuses; Other and unspecified female genital organs; Lip; Spinal cord, cranial nerves, and other parts of central nervous system; Colon; Oropharynx; Other and ill-defined sites; Unknown; Other and ill-defined sites within respiratory system and intrathoracic organs; Other and unspecified male genital organs; Cervix uteri; Bronchus and lung; Eye and adnexa; Ovary; Small intestine; Lymph nodes; Stomach | 1 | 3,033 | 0.03% | 0.01% to 0.19% |
| p.L2337R | CCDI-MCI | Cystic, Mucinous and Serous Neoplasms; Granular Cell Tumors and Alveolar Soft Part Sarcomas; Specialized Gonadal Neoplasms; Neoplasms, NOS; Adenomas and Adenocarcinomas; Gliomas; Meningiomas; Acinar Cell Neoplasms; Odontogenic Tumors; Soft Tissue Tumors and Sarcomas, NOS; Nevi and Melanomas; Malignant Lymphomas, NOS or Diffuse; Epithelial Neoplasms, NOS; Thymic Epithelial Neoplasms; Other and unspecified parts of mouth; Rectosigmoid junction; Thyroid gland; Connective, subcutaneous and other soft tissues; Peripheral nerves and autonomic nervous system; Other endocrine glands and related structures; Retroperitoneum and peritoneum; Vagina; Other and ill-defined digestive organs; Pancreas; Renal pelvis; Bladder; Nasal cavity and middle ear; Meninges; Adrenal gland; Bones, joints and articular cartilage of limbs; Bones, joints and articular cartilage of other and unspecified sites; Breast; Skin; Thymus; Esophagus; Other and ill-defined sites in lip, oral cavity and pharynx; Larynx; Other and unspecified urinary organs; Brain; Testis; Heart, mediastinum, and pleura; Rectum; Nasopharynx; Palate; Prostate gland; Base of tongue; Accessory sinuses; Other and unspecified female genital organs; Lip; Spinal cord, cranial nerves, and other parts of central nervous system; Colon; Oropharynx; Other and ill-defined sites; Unknown; Other and ill-defined sites within respiratory system and intrathoracic organs; Other and unspecified male genital organs; Cervix uteri; Bronchus and lung; Eye and adnexa; Ovary; Small intestine; Lymph nodes; Stomach | 1 | 3,033 | 0.03% | 0.01% to 0.19% |
| p.R1534* | ALCHEMIST-ALCH | Not Reported; Not Reported | 1 | 1,170 | 0.09% | 0.02% to 0.48% |
| p.R1534* | CCDI-MCI | Cystic, Mucinous and Serous Neoplasms; Granular Cell Tumors and Alveolar Soft Part Sarcomas; Specialized Gonadal Neoplasms; Neoplasms, NOS; Adenomas and Adenocarcinomas; Gliomas; Meningiomas; Acinar Cell Neoplasms; Odontogenic Tumors; Soft Tissue Tumors and Sarcomas, NOS; Nevi and Melanomas; Malignant Lymphomas, NOS or Diffuse; Epithelial Neoplasms, NOS; Thymic Epithelial Neoplasms; Other and unspecified parts of mouth; Rectosigmoid junction; Thyroid gland; Connective, subcutaneous and other soft tissues; Peripheral nerves and autonomic nervous system; Other endocrine glands and related structures; Retroperitoneum and peritoneum; Vagina; Other and ill-defined digestive organs; Pancreas; Renal pelvis; Bladder; Nasal cavity and middle ear; Meninges; Adrenal gland; Bones, joints and articular cartilage of limbs; Bones, joints and articular cartilage of other and unspecified sites; Breast; Skin; Thymus; Esophagus; Other and ill-defined sites in lip, oral cavity and pharynx; Larynx; Other and unspecified urinary organs; Brain; Testis; Heart, mediastinum, and pleura; Rectum; Nasopharynx; Palate; Prostate gland; Base of tongue; Accessory sinuses; Other and unspecified female genital organs; Lip; Spinal cord, cranial nerves, and other parts of central nervous system; Colon; Oropharynx; Other and ill-defined sites; Unknown; Other and ill-defined sites within respiratory system and intrathoracic organs; Other and unspecified male genital organs; Cervix uteri; Bronchus and lung; Eye and adnexa; Ovary; Small intestine; Lymph nodes; Stomach | 4 | 3,033 | 0.13% | 0.05% to 0.34% |
| p.R1534* | 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% |
Showing 5 of 6 cohort observations.
Literature-extracted relations (312)
Shown in this order: chemicals, then diseases.
| Related entity | Kind | Source relation label | Paper | Year |
|---|---|---|---|---|
| Lamotrigine | Chemical | negative_correlate |
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial. | 2025 |
| Lovastatin | Chemical | associate |
Cortical inhibition in neurofibromatosis type 1 is modulated by lovastatin, as demonstrated by a randomized, triple-blind, placebo-controlled clinical trial. | 2022 |
| EVEROLIMUS | Chemical | negative_correlate |
Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial. | 2018 |
| Fluorodeoxyglucose F18 | Chemical | associate |
The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors. | 2018 |
| METHYLPHENIDATE | Chemical | negative_correlate |
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial. | 2014 |
Showing 5 of 312 relation assertions.
Organizations publishing (551)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Government of the United States of America | Government | 77 | 2010 to 2025 |
| Mass General Brigham | Hospital | 50 | 2009 to 2025 |
| Memorial Sloan Kettering Cancer Center | Hospital | 47 | 2011 to 2025 |
| Harvard Medical School | Academic | 37 | 1995 to 2025 |
| Dana-Farber Cancer Institute | Other | 32 | 2013 to 2025 |
Showing 5 of 551 organizations.
Where NF1 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
- medical procedure
- musculoskeletal or connective tissue disease
- nervous system disease
- phenotype
- pregnancy or perinatal disease
- psychiatric disorder
- reproductive system or breast disease
- respiratory or thoracic disease
1,003 diseases touched.
Not on this page
Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.