ArticleBMC cancer2015
Variations of BRAF mutant allele percentage in melanomas.
Article in BMC cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 47 citations in OpenAlex.
- E6201, an intravenous MEK1 inhibitor, achieves an exceptional response in BRAF V600E-mutated metastatic malignant melanoma with brain metastases.Investigational new drugs · 2019Trial
- Precision oncology in advanced melanoma: molecular landscapes and personalized therapy recommendations from the Molecular Tumor Board Freiburg.NPJ precision oncology · 2026Article
- Ultra-rapid droplet digital PCR enables intraoperative tumor quantification.Med (New York, N.Y.) · 2025Article
- Allele frequency in thyroid cancer: mechanisms, challenges, and applications in cancer therapy.Thyroid research · 2025Review
- Braf-Mutant Melanomas: Biology and Therapy.Current oncology (Toronto, Ont.) · 2024Review
- ddPCR Overcomes the CRISPR-Cas13a-Based Technique for the Detection of the BRAF p.V600E Mutation in Liquid Biopsies.International journal of molecular sciences · 2024Article
- Ultra-Rapid Droplet Digital PCR Enables Intraoperative Tumor Quantification.medRxiv : the preprint server for health sciences · 2024Article
- Assessment of RAS-RAF-MAPK Pathway Mutation Status in Healthy Skin, Benign Nevi, and Cutaneous Melanomas: Pilot Study Using Droplet Digital PCR.International journal of molecular sciences · 2024Article
- Cobimetinib Plus Vemurafenib in Patients With Solid Tumors WithJCO precision oncology · 2023Article
- Incidence ofMelanoma management · 2023Article
- Educational Review: Neoadjuvant Approaches to Melanoma.Annals of surgical oncology · 2022Review
- Computer-Assisted Annotation of Digital H&E/SOX10 Dual Stains Generates High-Performing Convolutional Neural Network for Calculating Tumor Burden in H&E-Stained Cutaneous Melanoma.International journal of environmental research and public health · 2022Article
- BRAF Modulates Lipid Use and Accumulation.Cancers · 2022Article
- Tumor Type Agnostic Therapy Carrying BRAF Mutation: Case Reports and Review of Literature.Pharmaceuticals (Basel, Switzerland) · 2021Article
- BRAF Heterogeneity in Melanoma.Current treatment options in oncology · 2021Review
- Genomic and signalling pathway characterization of the NZM panel of melanoma cell lines: A valuable model for studying the impact of genetic diversity in melanoma.Pigment cell & melanoma research · 2021Article
- BRAF Mutation Heterogeneity in Melanoma Lesions.Acta dermato-venereologica · 2020Article
- Article
- Immunohistochemical and Molecular Features of Melanomas Exhibiting Intratumor and Intertumor Histomorphologic Heterogeneity.Cancers · 2019Article
- Dynamic and unpredictable changes in mutant allele fractions of BRAF and NRAS during visceral progression of cutaneous malignant melanoma.BMC cancer · 2019Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBRAF mutations are present in 40% of human skin melanomas. Mutated tumors with an increased percentage of BRAF mutant alleles (BRAF-M%) may have a better response to RAF/MEK inhibitors. We evaluated the BRAF-M% in melanomas, and the genetic causes of its variation.
methodsBRAF-M% was quantified by pyrosequencing, real-time PCR (rtPCR) and/or picoliter-droplet PCR (dPCR). BRAF mutant expression was detected by immunohistochemistry. Chromosomal alterations were analyzed with fluorescence in situ hybridization (FISH), and single nucleotide polymorphism (SNP) arrays.
resultsBRAF-M% quantification obtained with pyrosequencing was highly correlated (R = 0.94) with rtPCR, and with dPCR. BRAF-M% quantified from DNA and RNA were also highly correlated (R = 0.98). Among 368 samples with >80% tumor cells, 38.6% had a BRAF (V600E) mutation. Only 66.2% cases were heterozygous (BRAF-M% 30 to 60%). Increased BRAF-M% (>60%) was observed in 19% of cases. FISH showed a polysomy of chromosome 7 in 13.6%, 35.3% and 54.5% of BRAF wild-type, heterozygous and non-heterozygous BRAF-mutated samples, respectively (P < 0.005). Amplification (5.6%) and loss (3.2%) of BRAF locus were rare. By contrast, chromosome 7 was disomic in 27/27 BRAF-mutated nevi.
conclusionsBRAF-M% is heterogeneous and frequently increased in BRAF-mutant melanomas. Aneuploidy of chromosome 7 is more frequent in BRAF mutant melanomas, specifically in those with high BRAF-M%.
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