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NF1 - Biomarker

Results for "neurofibromin 1"

Target: neurofibromin 1

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

Clinical Applications

Breast CancerHereditary cancer-predisposing syndromeNeurofibromatosis type 1Inborn genetic diseaseJuvenile Myelomonocytic Leukemia

ncbi

Approved Therapies

Gomekli (MIRDAMETINIB) ^[5]

Status: approved

APPROVED

KOSELUGO (SELUMETINIB) ^[6]

Status: approved

APPROVED

Pipeline Therapies

Antioxidant Therapy With N-acetylcysteine for Learning and Motor Behavior in Children With Neurofibromatosis Type 1

Children's Hospital Medical Center, Cincinnati

PHASE2

Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease

M.D. Anderson Cancer Center

PHASE1

Natural History Study of Patients With Neurofibromatosis Type I

National Institutes of Health Clinical Center (CC)

PIPELINE

A Trial of Dabrafenib, Trametinib and Hydroxychloroquine for Patients With Recurrent LGG or HGG With a BRAF Aberration

Pediatric Brain Tumor Consortium

PHASE1, PHASE2

A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma

National Cancer Institute (NCI)

PHASE3

Companies Working on neurofibromin 1

Children's Hospital Medical Center, Cincinnati

Neurofibromatosis 1

AcetylcysteineN-monoacetylcystine

M.D. Anderson Cancer Center

Advanced Malignant Neoplasm

SirolimusBevacizumabAntineoplastic Agents, Immunological

National Institutes of Health Clinical Center (CC)

Neurofibromatosis Type 1

Pediatric Brain Tumor Consortium

Low Grade Glioma (LGG) of Brain With BRAF Aberration

HydroxychloroquineTrametinibDabrafenib

TrialsMap

Clinical Intelligence Agent

Interactive Clinical Trials Map

790

United States

108

Europe

Asia

Other

LitSearch

Scientific Literature Agent

Scientific Publications

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

PubMedNov 2013

The NF1 somatic mutational landscape in sporadic human cancers.

PubMedJun 2017

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PubMedApr 2014

Econazole selectively induces cell death in NF1-homozygous mutant tumor cells.

PubMedDec 2023

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

PubMedFeb 2022

Research Insights

Publication count:

5 papers

Research focus:

Breast Cancer

Sources & References

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

PubMed•Nov 2013

The NF1 somatic mutational landscape in sporadic human cancers.

PubMed•Jun 2017

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PubMed•Apr 2014

Econazole selectively induces cell death in NF1-homozygous mutant tumor cells.

PubMed•Dec 2023

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

PubMed•Feb 2022

Biomarkers

Results for "neurofibromin 1"

Target: neurofibromin 1

Clinical Applications

Approved Therapies

Gomekli (MIRDAMETINIB) [5]

KOSELUGO (SELUMETINIB) [6]

Pipeline Therapies

Antioxidant Therapy With N-acetylcysteine for Learning and Motor Behavior in Children With Neurofibromatosis Type 1

Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease

Natural History Study of Patients With Neurofibromatosis Type I

A Trial of Dabrafenib, Trametinib and Hydroxychloroquine for Patients With Recurrent LGG or HGG With a BRAF Aberration

A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma

Companies Working on neurofibromin 1

Children's Hospital Medical Center, Cincinnati

M.D. Anderson Cancer Center

National Institutes of Health Clinical Center (CC)

Pediatric Brain Tumor Consortium

TrialsMap

Interactive Clinical Trials Map

LitSearch

Scientific Publications

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

The NF1 somatic mutational landscape in sporadic human cancers.

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

Econazole selectively induces cell death in NF1-homozygous mutant tumor cells.

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Research Insights

Sources & References

Gomekli (MIRDAMETINIB) ^[5]

KOSELUGO (SELUMETINIB) ^[6]