Relevant bibliographies by topics / V600 type mutation

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Academic literature on the topic 'V600 type mutation'

Author: Grafiati
Published: 24 April 2022
Last updated: 30 July 2025

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Journal articles on the topic "V600 type mutation"

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Moon, J. J. "Novel Approach for Detection of BRAF and KRAS Mutations Using ARMS (amplification refractory mutation system) Primers for Colon Cancer Therapeutic Response Prediction." American Journal of Clinical Pathology 162, Supplement_1 (2024): S130—S131. http://dx.doi.org/10.1093/ajcp/aqae129.289.

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Abstract Introduction/Objective KRAS and BRAF V600E mutations are confirmed predictive biomarkers for anti-EGFR monoclonal antibody therapy response and prognosis for colorectal cancer and often considered mutually exclusive with few exceptions (0.05% of mCRC cases). We have developed a multiplex PCR assay utilizing ARMS (amplification refractory mutation system) Primers and Probes for screening and further testing of BRAF mutation status in a 2 step process. Methods/Case Report The Multiplex PCR Assay or BRAF/KRAS mutation was designed as a 5 color assay. Primers and Probes consisted of Wild
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Rojo, Federico, Trinidad Caldes, Sandra Zazo, et al. "Prevalence of low-penetrance KRAS (codons 12/13 and 61) and BRAF mutations in metastatic colorectal carcinoma." Journal of Clinical Oncology 30, no. 15_suppl (2012): e14147-e14147. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e14147.

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e14147 Background: In patients with metastatic colorectal cancer (mCRC), activating mutations within KRAS, which result in EGFR-independent intracellular signal transduction activation, are found in approximately 35-40% of patients with mCRC have been significantly associated with lack of response to cetuximab or panitumumab therapy. Although current guidelines recommend testing for frequent KRAS codons 12/13 mutations, emerging data indicate that additional KRAS and BRAF mutations are also predictive of non-responsiveness to anti-EGFR antibodies in mCRC. This study is aimed to analyze the pre
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Fülöp, László, Katalin Götzer, Erzsébet Csernák, Danyil Szergejevics Kuznyecov, and Erika Tóth. "Rapid BRAF mutation detection in melanoma patients by immunohistochemistry." Journal of Universal Science Online 4, no. 1 (2017): 1–5. http://dx.doi.org/10.17202/juso.2017.4.1.

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The V600E mutation is the most common (~90%) activating mutation of the BRAF gene. BRAF mutations have been frequently investigated in melanoma, colorectal cancer and papillary thyroid carcinoma. The importance of the detection of BRAF mutations has been rising by the routine use of Braf inhibitor therapy. We evaluated the usefulness of the BRAF V600E mutation-specific monoclonal antibody (VE1) in metastatic melanoma patients. To confirm the results of immunohistochemistry (IHC), we used COBAS 4800 BRAF V600 mutation test and PCR amplification followed by Sanger sequencing.36 of 105 patients h
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Erika, Pino, Benítez Claudia, Aristizábal Clara, et al. "Frequency of BRAF V600E/E2/D and V600K/R/M mutations in patients with malignant melanoma unresectable stage III-IIIC–IV from May to August-2021 at Unigem in Medellin." International Journal of Molecular Biology Open Access 6, no. 1 (2023): 8–12. http://dx.doi.org/10.15406/ijmboa.2023.06.00146.

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Background: Melanoma is the most aggressive skin cancer type and is responsible for 80% of deaths from this entity. It is considered one of the tumors with the highest mutational load, with approximately 50% of cases in codon 600 of the BRAF gene. Objective: To determine the frequency of BRAF V600E/E2/D and BRAF V600K/R/M mutations in patients with malignant melanoma unresectable stage III-IIIC – IV, during the period May-2018 and August-2021, at UNIGEM, in Medellín. Methodology: Observational, retrospective study, which included 154 paraffin-embedded biopsies from patients with stage III-IIIC
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Jones, Jeremy C., Lindsay A. Renfro, Humaid O. Al-Shamsi, et al. "Non-V600BRAF Mutations Define a Clinically Distinct Molecular Subtype of Metastatic Colorectal Cancer." Journal of Clinical Oncology 35, no. 23 (2017): 2624–30. http://dx.doi.org/10.1200/jco.2016.71.4394.

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Purpose Molecular diagnostic testing has become an integral part of the evaluation of patients with metastatic colorectal cancer (CRC). Expanded mutational testing, such as next-generation sequencing (NGS), often identifies mutations with unclear clinical or prognostic implications. One such example is BRAF mutations that occur outside of codon 600 (non-V600 BRAF mutations). Methods We conducted this multicenter, retrospective cohort study to characterize the clinical, pathologic, and survival implications of non-V600 BRAF mutations in metastatic CRC. We pooled patients in whom non-V600 BRAF m
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Huang, Helen J., Benoit Devogelaere, Gerald Steven Falchook, et al. "BRAF mutation testing with a novel, rapid, fully automated molecular diagnostics prototype platform." Journal of Clinical Oncology 31, no. 15_suppl (2013): 11086. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.11086.

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11086 Background: Mutations in the BRAF gene provide actionable targets for cancer therapy in melanoma and other tumor types. Novel, fast, and accurate diagnostic systems are needed for further implementation of personalized therapy. Methods: The molecular diagnostics (MDx) prototype platform (Biocartis, Mechelen, Belgium) is a fully integrated real-time PCR-based system with high sensitivity (1% mutant in wild-type [wt] background) and fast turnaround time (< 90 minutes), which requires no sample preparation and <2 min hands-on time. Archival formalin-fixed paraffin-embedded tumor sampl
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Karbel, Hadeel Abdul Elah, Sura Salman Ejam, and Ali Zaki Naji. "Immunohistochemical Study Using Monoclonal VE1 Antibody Can Substitute the Molecular Tests for Apprehension of BRAF V600E Mutation in Patients with Non-small-Cell Lung Carcinoma." Analytical Cellular Pathology 2019 (November 5, 2019): 1–6. http://dx.doi.org/10.1155/2019/2315673.

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In patients with non-small-cell lung carcinoma (NSCLC), the analysis of BRAF V600E mutation has become more and more applied since the introduction of many mutation-targeted medications. In this regard, the advantage of immunohistochemistry (IHC) as a reliable diagnostic test substitute to other molecular studies has not been approved yet. Objective. To examine the dependability of using immunohistochemical method utilizing monoclonal VE1 antibody in the detection of BRAF V600 E mutation in patients with non-small-cell lung carcinoma and compare the results there with that of polymerase chain
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Mukonoweshuro, Chantel L., Emmanuelle Rousselle, and April A. Rose. "Abstract 5063: Exploring the mutational landscape of KRAS and NRAS in tumors with non-V600 BRAF mutations." Cancer Research 84, no. 6_Supplement (2024): 5063. http://dx.doi.org/10.1158/1538-7445.am2024-5063.

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Abstract Background: BRAF, a key modulator of the Mitogen-Activated Protein Kinase (MAPK) pathway, is observed in 7% of all cancers. Therapeutic response to MAPK inhibition (MAPKi) often relies on molecular distinctions between members of varying classes: Class 1 (V600), Class 2 and 3 (non-V600) BRAF mutants. Preliminary data indicates that co-occurring RAS mutations in non-V600 BRAF mutant cancers are less responsive to MAPKi treatment. This emphasizes the need to investigate the characteristics of RAS co-mutations in non-V600 BRAF mutant tumors. Methods: Genomic data was obtained from a coho
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Anderson, Steven, Kenneth J. Bloom, Dino U. Vallera, et al. "Multisite Analytic Performance Studies of a Real-Time Polymerase Chain Reaction Assay for the Detection of BRAF V600E Mutations in Formalin-Fixed, Paraffin-Embedded Tissue Specimens of Malignant Melanoma." Archives of Pathology & Laboratory Medicine 136, no. 11 (2012): 1385–91. http://dx.doi.org/10.5858/arpa.2011-0505-oa.

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Context.—A polymerase chain reaction–based companion diagnostic (cobas 4800 BRAF V600 Mutation Test) was recently approved by the US Food and Drug Administration to select patients with BRAF-mutant metastatic melanoma for treatment with the BRAF inhibitor vemurafenib. Objectives.—(1) To compare the analytic performance of the cobas test to Sanger sequencing by using screening specimens from phase II and phase III trials of vemurafenib, and (2) to assess the reproducibility of the cobas test at different testing sites. Design.—Specimens from 477 patients were used to determine positive and nega
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Kazandjian, Suzanne, Emmanuelle Rousselle, Matthew Dankner, et al. "The Clinical, Genomic, and Transcriptomic Landscape of BRAF Mutant Cancers." Cancers 16, no. 2 (2024): 445. http://dx.doi.org/10.3390/cancers16020445.

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Background: BRAF mutations are classified into four molecularly distinct groups, and Class 1 (V600) mutant tumors are treated with targeted therapies. Effective treatment has not been established for Class 2/3 or BRAF Fusions. We investigated whether BRAF mutation class differed according to clinical, genomic, and transcriptomic variables in cancer patients. Methods: Using the AACR GENIE (v.12) cancer database, the distribution of BRAF mutation class in adult cancer patients was analyzed according to sex, age, primary race, and tumor type. Genomic alteration data and transcriptomic analysis wa
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Book chapters on the topic "V600 type mutation"

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Kurt, Gökhan, and Ayfer Aslan. "Craniopharyngioma." In Central Nervous System Tumors [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.106635.

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Craniopharyngioma (CP) is a rare, benign, slow-growing, but clinically aggressive tumor located mainly in the sellar and suprasellar regions. While it occurs equally in children and adults, there are two peaks in the age distribution: first in 5–14 years of age and second in 45–74 years of age. The clinical presentation varies according to the age of patients, while the predominant symptoms are visual disturbances, headache, and endocrine dysfunctions. CPs are topographically classified in several subgroups based on the relationship of the tumor to the sella, diaphragma sellae, optic chiasm, s
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Conference papers on the topic "V600 type mutation"

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Oujdad, S., S. Zafad, H. El Attar, and I. Ben Yahya. "Histiocytose langerhansienne de l’adulte : à propos d’un cas." In 66ème Congrès de la SFCO. EDP Sciences, 2020. http://dx.doi.org/10.1051/sfco/20206603013.

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L’histiocytose langerhansienne est une maladie rare causée par la prolifération et l’infiltration d’un ou plusieurs organes, par des cellules dendritiques de type Langerhans. Elle s’exprime par des manifestations cliniques extrêmement polymorphes et peut toucher l’os, la peau, l’hypophyse, les poumons, le système nerveux central, et plus rarement le foie et le système digestif. Elle a été initialement décrite chez les enfants. L’histiocytose langerhansienne de l’adulte présente une entité particulière tant par ses manifestations cliniques que par sa prise en charge. Le cas présenté est celui d
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