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Journal articles on the topic 'BRAF mutations'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Menzer, Christian, Alexander M. Menzies, Matteo S. Carlino, et al. "Targeted Therapy in Advanced Melanoma With Rare BRAF Mutations." Journal of Clinical Oncology 37, no. 33 (2019): 3142–51. http://dx.doi.org/10.1200/jco.19.00489.

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PURPOSE BRAF/MEK inhibition is a standard of care for patients with BRAF V600E/K–mutated metastatic melanoma. For patients with less frequent BRAF mutations, however, efficacy data are limited. METHODS In the current study, 103 patients with metastatic melanoma with rare, activating non-V600E/K BRAF mutations that were treated with either a BRAF inhibitor (BRAFi), MEK inhibitor (MEKi), or the combination were included. BRAF mutation, patient and disease characteristics, response, and survival data were analyzed. RESULTS Fifty-eight patient tumors (56%) harbored a non-E/K V600 mutation, 38 (37%

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2

Lee, Darren, Yazan Abu-Shihab, Deedra Nicolet, et al. "BRAF-Mutated Acute Myeloid Leukemia (AML) Represents a Prognostically Poor Subgroup Enriched for Myelodysplasia-Related Subtypes and Distinct from Other RAS Pathway Mutant AML." Blood 144, Supplement 1 (2024): 2921. https://doi.org/10.1182/blood-2024-210110.

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Background: MAPK/RAS signaling pathway mutations are common somatic events in de novo and secondary acute myeloid leukemia (AML), occurring mainly in NRAS, KRAS, and/or PTPN11. BRAF mutations occur with lower frequency in AML and are reported to be universally associated with poor outcome. To date, no comprehensive analysis exists that decisively assesses clinical and molecular characteristics of BRAF-mutated (BRAFm) AML, including insights into clonal architecture, co-occurring mutations, and disease immunophenotype. Methods: We identified 42 AML pts harboring BRAF mutations through targeted

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3

Xiao, Wenxuan, Ying Liu, Lei Hou, et al. "Retrospective study of BRAF inhibitor-based therapy in patients with BRAF mutated advanced solid tumors (RBAST study)." Journal of Clinical Oncology 42, no. 16_suppl (2024): e23265-e23265. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.e23265.

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e23265 Background: BRAF mutations are frequently found in melanoma, non-small cell lung cancer (NSCLC), thyroid cancer, to a lesser degree in other tumor types. These mutations constantly activate the kinase domain and result in MAPK pathway hyperactivation. Successful inhibition of this pathway with BRAF/MEK inhibitors (BRAFi/MEKi) results in a clinically meaningful benefit for some patients. The RBAST study, to assess the efficacy and survival outcomes of BRAF inhibitor-based therapy were investigated in patients with solid tumors harboring BRAF mutations. Methods: Data was collected on a to

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4

Prophet, Malshundria, Kun Xiao, Theodore Stewart Gourdin, et al. "Detection of actionable BRAF missense mutations by ctDNA-based genomic analysis in prostate cancer." Journal of Clinical Oncology 36, no. 6_suppl (2018): 306. http://dx.doi.org/10.1200/jco.2018.36.6_suppl.306.

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306 Background: Activating BRAF fusion proteins are rare in prostate cancer (PCa) patients. Driver missense BRAF mutations have not been reported in detail in this population. Methods: We examined ctDNA-derived genomic profiles (Guardant 360) from 2,721 unique PCa patients, to identify BRAF genomic anomalies (SNVs, amplification). The ctDNA results were compared with PCa tissue-based genomics from the TCGA database (1,851 unique patients). Results: BRAF missense mutations were found in 76 ctDNA patients (2.8%) and were from all known mutation classes (I, II, III) as well as variants of unknown

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5

Hwang, Tae Sook, Wook Youn Kim, Hye Seung Han, et al. "Preoperative RAS Mutational Analysis Is of Great Value in Predicting Follicular Variant of Papillary Thyroid Carcinoma." BioMed Research International 2015 (2015): 1–8. http://dx.doi.org/10.1155/2015/697068.

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Follicular variant of papillary thyroid carcinoma (FVPTC), particularly the encapsulated subtype, often causes a diagnostic dilemma. We reconfirmed the molecular profiles in a large number of FVPTCs and investigated the efficacy of the preoperative mutational analysis in indeterminate thyroid nodules. BRAF V600E/K601E and RAS mutational analysis was performed on 187 FVPTCs. Of these, 132 (70.6%) had a point mutation in one of the BRAF V600E (n=57), BRAF K601E (n=11), or RAS (n=64) genes. All mutations were mutually exclusive. The most common RAS mutations were at NRAS codon 61. FNA aspirates f

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Stockman, David, Michael T. Tetzlaff, Tariq Al-Zaid, et al. "Differential clinical associations of BRAF and NRAS mutations among histologic types of cutaneous melanomas." Journal of Clinical Oncology 31, no. 15_suppl (2013): e20034-e20034. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e20034.

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e20034 Background: Previous studies have investigated whether BRAF and NRAS mutation status in melanoma correlate with histologic parameters and overall survival (OS), but evaluation of mutation groups irrespective of specific mutation among histologic types of melanoma has led to variability in the reproducibility of results. We tested the hypothesis that different histologic types of melanoma (nodular [NM] and superficial spreading [SSM]) have distinct clinical associations with specific BRAF and NRAS mutations. Methods: Primary tumor histology, BRAF/NRAS mutation status, and clinical outcom

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7

Brinzan, Costel, Mariana Aschie, Catalin Nicolae Grasa, Anca Florentina Mitroi, Elena Matei, and Georgeta Camelia Cozaru. "The Mutation Profiles of KRAS and BRAF Genes in a Romanian Colorectal Cancer Cohort." Revista de Chimie 70, no. 4 (2019): 1346–50. http://dx.doi.org/10.37358/rc.19.4.7124.

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Colorectal cancer (CRC) is one of most commonly diagnosed malignancies and management of CRC differs in according with patient�s characteristics, tumor type, differentiation, metastatic extension and KRAS/BRAF mutations. Based on this knowledge, we examined the relationship between KRAS/BRAF mutations in paraffin-embedded tumor specimens and some clinicopathological features at CRC in order to provide reliable results to the oncologists and so to contribute to the best care provided to the patients. A 56 of colorectal cancer samples were analyzed for the KRAS and BRAF mutational status using S

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8

Ahn, Hyo Yeong, Chang Hun Lee, Min Ki Lee, et al. "BRAF V600E Mutation of Non-Small Cell Lung Cancer in Korean Patients." Medicina 59, no. 6 (2023): 1085. http://dx.doi.org/10.3390/medicina59061085.

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Background and Objectives: BRAF mutational status in resected non-small cell lung cancer (NSCLC) in the Korean population is poorly understood. We explored BRAF (particularly BRAF V600E) mutational status among Korean patients with NSCLC. Materials and Methods: This study included 378 patients with resected primary NSCLC who were enrolled from January 2015 to December 2017. The authors obtained formalin-fixed paraffin-embedded (FFPE) tissue blocks and performed peptide nucleic acid (PNA)-clamping polymerase chain reaction (PCR) for detecting BRAF V600, real-time PCR for detecting BRAF V600E, a

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9

Zhang, Jianqing, Jiagang Feng, Ling Liu, et al. "Abstract 5774: Investigating the characteristics of BRAF Mutations and its potential relationship with therapy in a large Chinese Lung Cancer cohort." Cancer Research 82, no. 12_Supplement (2022): 5774. http://dx.doi.org/10.1158/1538-7445.am2022-5774.

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Abstract Background: In lung cancer, the proportion of BRAF mutations is low. Rare specific studies have evaluated the BRAF mutation characteristics in lung cancer. Currently, there are some studies suggesting that patients with BRAF mutations may be benefit from immunotherapy, while patients with BRAF V600E may benefit from targeted therapy. Here, the characteristics of BRAF mutation, including BRAF V600E, in a lung cancer cohort of Chinese were analyzed. The characteristics of BRAF mutation with PD-L1 expression were also analyzed. Method: BRAF mutant samples were extracted from 12,051 our c

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10

Lee, Joon-Hyop, Jiyoung Ahn, Won Seo Park, et al. "Colorectal Cancer Prognosis is Not Associated with BRAF and KRAS Mutations-A STROBE Compliant Study." Journal of Clinical Medicine 8, no. 1 (2019): 111. http://dx.doi.org/10.3390/jcm8010111.

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Background: We investigated the associations between v-Raf murine sarcoma viral oncogene homolog B1 (BRAFV600E, henceforth BRAF) and v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations and colorectal cancer (CRC) prognosis, using The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GSE39582) datasets. Materials and Methods: The effects of BRAF and KRAS mutations on overall survival (OS) and disease-free survival (DFS) of CRC were evaluated. Results: The mutational status of BRAF and KRAS genes was not associated with overall survival (OS) or DFS of the CRC patients

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Moltara, Maja Ebert, Srdjan Novakovic, Marko Boc, et al. "Prevalence of BRAF, NRAS and c-KIT mutations in Slovenian patients with advanced melanoma." Radiology and Oncology 52, no. 3 (2018): 289–95. http://dx.doi.org/10.2478/raon-2018-0017.

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Abstract Background BRAF, NRAS and c-KIT mutations are characteristics of tumour tissues that influence on treatment decisions in metastatic melanoma patients. Mutation frequency and their correlation with histological characteristics in Slovenian population have not been investigated yet. Patients and methods In our retrospective analysis we analysed mutational status of BRAF, NRAS and c-KIT in 230 pathological samples of patients who were intended to be treated with systemic therapy due to metastatic disease at the Institute of Oncology Ljubljana between 2013 and 2016. We collected also hist

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12

Thompson, Elizabeth L., Jiayi J. Hu, and Laura J. Niedernhofer. "The Role of Senescent Cells in Acquired Drug Resistance and Secondary Cancer in BRAFi-Treated Melanoma." Cancers 13, no. 9 (2021): 2241. http://dx.doi.org/10.3390/cancers13092241.

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BRAF is the most common gene mutated in malignant melanoma, and predominately it is a missense mutation of codon 600 in the kinase domain. This oncogenic BRAF missense mutation results in constitutive activation of the mitogen-activate protein kinase (MAPK) pro-survival pathway. Several BRAF inhibitors (BRAFi) have been developed to specifically inhibit BRAFV600 mutations that improve melanoma survival, but resistance and secondary cancer often occur. Causal mechanisms of BRAFi-induced secondary cancer and resistance have been identified through upregulation of MAPK and alternate pro-survival

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13

Chen, Yungchang, Yanhong Deng, Yutong Ma, et al. "Clinical and genomic distinction of class 1/2/3 BRAF-mutant colorectal cancer and differential prognosis." Journal of Clinical Oncology 40, no. 16_suppl (2022): 3533. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.3533.

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3533 Background: Mutations occurring at the V600 amino acid of BRAF is the most common BRAF mutations in colorectal cancer (CRC), which lead to RAS-independent active monomers (Class 1) and are the targets of BRAF inhibitors. BRAF non-V600 mutants can be further classified as RAS-independent active dimers (Class 2) and RAS-dependent impaired kinase (Class 3). The clinical and genetic distinction of CRC patients carrying different subtypes of BRAF mutations remain to be revealed. Methods: A multicenter retrospective study investigated the mutational profiles of 2,118 CRC patients whose baseline

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Röck, Ruth, Johanna E. Mayrhofer, Omar Torres-Quesada, et al. "BRAF inhibitors promote intermediate BRAF(V600E) conformations and binary interactions with activated RAS." Science Advances 5, no. 8 (2019): eaav8463. http://dx.doi.org/10.1126/sciadv.aav8463.

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Oncogenic BRAF mutations initiate tumor formation by unleashing the autoinhibited kinase conformation and promoting RAS-decoupled proliferative RAF-MEK-ERK signaling. We have engineered luciferase-based biosensors to systematically track full-length BRAF conformations and interactions affected by tumorigenic kinase mutations and GTP loading of RAS. Binding of structurally diverse αC-helix-OUT BRAF inhibitors (BRAFi) showed differences in specificity and efficacy by shifting patient mutation–containing BRAF reporters from the definitive opened to more closed conformations. Unexpectedly, BRAFi e

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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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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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An, Zhang Quan. "Abstract 2566: Molecular characteristic profile in early colorectal cancer with V600E and non-V600E BRAF mutations." Cancer Research 84, no. 6_Supplement (2024): 2566. http://dx.doi.org/10.1158/1538-7445.am2024-2566.

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Abstract Background: The BRAF V600E mutation in colorectal cancer (CRC) is a significant indicator of poor prognosis, especially in tumors exhibiting microsatellite instability (MSI). It is more common on the right side of the colon but can occur anywhere within the colon. Although other BRAF mutations existed, current research primarily focused on BRAF V600E. Most clinical data sets were centered on advanced colorectal cancer. There was limited understanding of the molecular characteristics of early-stage colorectal cancer patients with BRAF mutations, which impacted postoperative prognosis m

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Gökmen, İvo, Ebru Taştekin, Nazan Demir, et al. "Molecular Pattern and Clinical Implications of KRAS/NRAS and BRAF Mutations in Colorectal Cancer." Current Issues in Molecular Biology 45, no. 10 (2023): 7803–12. http://dx.doi.org/10.3390/cimb45100491.

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The aim of our study was to evaluate the incidence of KRAS/NRAS and BRAF mutations, analyze molecular patterns, and investigate associations with clinical parameters of these mutations in CRC KRAS/NRAS and BRAF mutations analyzed by next-generation sequencing. The detection rates of these mutations and patients’ demographics were recorded and the relationship between them was evaluated using the chi-square test. KRAS mutation was detected in 332 of 694 patients, while the mutation rates in KRAS exons 2/3 and 4 were 39.6%/3.2% and 5%, respectively. The most common mutation pattern was KRAS G12D

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Yamazaki, Kentaro, Takayuki Yoshino, Katsuya Tsuchihara, et al. "Clinical impact of expanded BRAF mutational status on the outcome for metastatic colorectal cancer patients with anti-EGFR antibody: An analysis of the BREAC trial (Biomarker Research for Anti-EGFR Monoclonal Antibodies by Comprehensive Cancer Genomics)." Journal of Clinical Oncology 33, no. 3_suppl (2015): 573. http://dx.doi.org/10.1200/jco.2015.33.3_suppl.573.

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573 Background: BRAFV600E mutation has been recognized as a prognostic marker in patients (pts) with metastatic colorectal cancer (mCRC). Several studies have consistently shown a significant association between the presence of BRAFV600E mutation and resistance to anti-EGFR antibody therapy in pts with previously treated mCRC while there are few reports on the clinical impact of minor BRAF mutations. Methods: The BREAC trial was a multicenter, retrospective study to investigate the novel biomarkers of anti-EGFR antibody therapy. RAS and BRAF mutations were detected by targeted sequencing using

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Zhang, Jian, Yu Fang, Lei Sun, et al. "Abstract 5292: Investigating the potential relationship between BRAF mutations and tumor mutation burden (TMB) in lung cancer (LC)." Cancer Research 82, no. 12_Supplement (2022): 5292. http://dx.doi.org/10.1158/1538-7445.am2022-5292.

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Abstract BackgroundCurrently, BRAF inhibitors are primarily effective in LC patients with BRAF V600E mutation, while with limited benefit for patients with BRAF non-V600E mutation. Additionally, it is unclear whether immunotherapy is effective in LC patients with BRAF mutations, and the relationship between BRAF mutations and immune biomarkers, such as TMB, is also unclear. Here, we retrospectively investigated the relationship with BRAF mutation and TMB in Chinese LC patients.MethodsSamples were extracted from 3,136 our cohort samples of LC, which from OncoPanscan࣪ (Genetron Health) based seq

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Barzon, Luisa, Giulia Masi, Isabella Merante Boschin, et al. "Characterization of a novel complex BRAF mutation in a follicular variant papillary thyroid carcinoma." European Journal of Endocrinology 159, no. 1 (2008): 77–80. http://dx.doi.org/10.1530/eje-08-0239.

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IntroductionActivating mutations of the BRAF oncogene are frequently detected in papillary thyroid carcinoma (PTC) and have been associated with a worse prognosis. The amino acid substitution V600E accounts for 90% of all oncogenic BRAF mutations and is typically detected in classic PTCs, whereas other less frequent BRAF mutations seem to be associated with other PTC histotypes.CaseScreening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation inv

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Di Nicolantonio, Federica, Miriam Martini, Francesca Molinari, et al. "Wild-Type BRAF Is Required for Response to Panitumumab or Cetuximab in Metastatic Colorectal Cancer." Journal of Clinical Oncology 26, no. 35 (2008): 5705–12. http://dx.doi.org/10.1200/jco.2008.18.0786.

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Purpose Cetuximab or panitumumab are effective in 10% to 20% unselected metastatic colorectal cancer (CRC) patients. KRAS mutations account for approximately 30% to 40% patients who are not responsive. The serine-threonine kinase BRAF is the principal effector of KRAS. We hypothesized that, in KRAS wild-type patients, BRAF mutations could have a predictive/prognostic value. Patients and Methods We retrospectively analyzed objective tumor responses, time to progression, overall survival (OS), and the mutational status of KRAS and BRAF in 113 tumors from cetuximab- or panitumumab-treated metasta

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Wagner, Sebastian A. "Clinical associations and genetic interactions of oncogenic BRAF alleles." PeerJ 10 (October 18, 2022): e14126. http://dx.doi.org/10.7717/peerj.14126.

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BRAF is a serine/threonine-specific protein kinase that regulates the MAPK/ERK signaling pathway, and mutations in the BRAF gene are considered oncogenic drivers in diverse types of cancer. Based on the signaling mechanism, oncogenic BRAF mutations can be assigned to three different classes: class 1 mutations constitutively activate the kinase domain and lead to RAS-independent signaling, class 2 mutations induce artificial dimerization of BRAF and RAS-independent signaling and class 3 mutations display reduced or abolished kinase function and require upstream signals. Despite the importance o

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Chendriadi, Vanesya Rizky, and Willy Sandhika. "Exploiting BRAF Mutation for Treatment of Malignant Melanoma: A Literature Review." International Journal of Research and Review 10, no. 12 (2024): 845–53. http://dx.doi.org/10.52403/ijrr.20231285.

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Malignant melanoma, a deadly type of skin cancer, presents considerable challenges in clinical management. However, the advent of targeted therapies capitalizing on BRAF mutations has ushered in a new era of optimism for treating melanomas. This investigation delves into the utilization of BRAF mutations as a focused approach in addressing malignant melanoma. Anomalously activated RAS-RAF-MEK-ERK signaling, particularly through the prevalent V600E mutation, instigates uncontrolled cell proliferation and survival in melanocytes. Melanoma arises de novo from melanocytes carrying genetic alterati

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Rother, J., J. Bailey, G. Alvarado, et al. "Molecular dissection of the RAS/RAF/MAPK pathway in primary and metastatic melanoma." Journal of Clinical Oncology 24, no. 18_suppl (2006): 8050. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.8050.

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8050 Background: Given the reported presence of frequent mutation in NRAS and BRAF in many melanocytic lesions, the association of mutations activating the RAS/RAF/MAPK pathway with tumor progression in melanoma remains unclear. We compared the NRAS and BRAF mutation status with the levels of activated MAPK in paired primary and metastatic melanomas. Methods: 15 patients with material from both primary and metastatic lesions were assessed. Four patients had metastasis at initial diagnosis, the remaining patients developed metastasis from 8.5 to 66 months (mos) following initial diagnosis (medi

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Mazurenko, N. N., I. V. Tsyganova, A. A. Lushnikova, et al. "MUTATIONAL STATUS AND SOME CLINICO-MORPHOLOGICAL FEATURES OF CUTANEOUS MELANOMA." Russian Journal of Oncology 22, no. 2 (2017): 60–65. http://dx.doi.org/10.18821/1028-9984-2017-22-2-60-65.

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Cutaneous melanoma is characterized by molecular heterogeneity. The work is devoted to the analysis of mutational status of genes involved in MAPK signaling in primary and metastatic cutaneous melanoma for the detection of tumor sensitivity to the specific targeted therapy as well as possible links of genetic alterations in cutaneous melanoma with some clinical and morphological features. BRAF, NRAS and KIT mutations were found in 60.6%, 13.8% and 1% of cutaneous melanoma cases correspondingly. Mutational status of cutaneous melanoma is differed depending on tumor localization, chronic UV inso

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Sørensen, Anna Lahn, Mariann Guldmann-Christensen, Michael Børgesen, et al. "Detection of BRAF mutations in malignant melanoma and colorectal cancer by SensiScreen® FFPE BRAF qPCR assay." PLOS ONE 18, no. 2 (2023): e0281558. http://dx.doi.org/10.1371/journal.pone.0281558.

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Mutations in BRAF exon 15 lead to conformational changes in its activation loops, resulting in constitutively active BRAF proteins which are implicated in the development of several human cancer types. Different BRAF inhibitors have been developed and introduced in clinical practice. Identification of BRAF mutations influences the clinical evaluation, treatment, progression and for that reason a sensitive and specific identification of BRAF mutations is on request from the clinic. Here we present the SensiScreen® FFPE BRAF qPCR Assay that uses a novel real-time PCR-based method for BRAF mutati

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Stella, G., F. Rojas Llimpe, C. Barone, et al. "KRAS and BRAF mutational status as response biomarkers to cetuximab combination therapy in advanced gastric cancer patients." Journal of Clinical Oncology 27, no. 15_suppl (2009): e15503-e15503. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e15503.

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e15503 Background: The prognosis of advanced gastric cancer (GC) patients (pt) is still poor despite the introduction of new chemotherapy regimens. In colorectal cancer (CRC) it has been demonstrated that KRAS or BRAF mutations are associated with resistance to treatment with the anti-EGFR mAbs. We have assessed whether, and to what extent, the mutational profile of KRAS and BRAF genes affects the response to cetuximab combination therapy in GC. Methods: We have collected 44 tumor samples from pts affected by locally advanced or metastatic GC undergoing cetuximab combination therapy as first-l

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Boulalas, Ioannis, Apostolos Zaravinos, Demetrios Delakas, and Demetrios A. Spandidos. "Mutational Analysis of the BRAF Gene in Transitional Cell Carcinoma of the Bladder." International Journal of Biological Markers 24, no. 1 (2009): 17–21. http://dx.doi.org/10.1177/172460080902400103.

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Purpose Mutational activation of the MAP kinase pathway is frequently found in many types of cancer. Recently, activating mutations in the BRAF gene, an important activator of this pathway, have been described in several tumor types including melanoma, colorectal and papillary thyroid cancer. The most frequent mutation in exon 15 (V600E) as well as several other mutations within exons 11 and 15 result in constitutive activation of the oncoprotein. Materials and methods Our study aimed to investigate BRAF mutations in 30 human bladder tumors and their adjacent normal tissues. The V600E mutation

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Sullivan, Ryan J., and Keith T. Flaherty. "BRAF in Melanoma: Pathogenesis, Diagnosis, Inhibition, and Resistance." Journal of Skin Cancer 2011 (2011): 1–8. http://dx.doi.org/10.1155/2011/423239.

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Since the initial discovery that a subset of patients with cutaneous melanoma harbor BRAF mutations, substantial research has been focused on determining the pathologic consequences of BRAF mutations, optimizing diagnostic techniques to identify these mutations, and developing therapeutic interventions to inhibit the function of this target in mutation-bearing tumors. Recently, advances have been made which are revolutionizing the standard of care for patients with BRAF mutant melanoma. This paper provides an overview on the pathogenic ramifications of mutant BRAF signaling, the latest molecul

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De Leo, Antonio, Daniela Serban, Thais Maloberti, et al. "Expanding the Spectrum of BRAF Non-V600E Mutations in Thyroid Nodules: Evidence-Based Data from a Tertiary Referral Centre." International Journal of Molecular Sciences 24, no. 4 (2023): 4057. http://dx.doi.org/10.3390/ijms24044057.

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The BRAF p.V600E mutation represents the most specific marker for papillary thyroid carcinoma and is potentially related to aggressive behavior and persistent disease. BRAF alterations other than the p.V600E are less common in thyroid carcinoma and represent an alternative mechanism of BRAF activation with unclear clinical significance. The study aims to describe the frequency and clinicopathologic characteristics of BRAF non-V600E mutations in a large cohort (1654 samples) of thyroid lesions characterized by next-generation sequencing. BRAF mutations have been found in 20.3% (337/1654) of thy

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Bozzao, Cristina, Dora Varvara, Marilidia Piglionica, et al. "Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients." International Journal of Biological Markers 27, no. 4 (2012): 366–74. http://dx.doi.org/10.5301/jbm.2012.9765.

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Molecular testing for KRAS and BRAF mutations in tumor tissue is a fundamental tool to identify patients with metastatic colorectal cancer (CRC) who are eligible for anti-EGFR monoclonal antibody therapy. We here report a molecular analysis by high-resolution melting analysis and direct sequencing of KRAS, BRAF and PIK3CA hot spot mutations in 209 Italian CRC patients. One hundred and ten patients (51%) were identified who were potentially nonresponders to anti-EGFR therapy: 90/209 patients (43%) harboring KRAS mutations, 13/117 (11.1%) with the V600E BRAF mutation, and 7/209 (3.3%) with mutat

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Margari, Niki, Abraham Pouliakis, Aris Spathis, et al. "Quality Control and Telemedicine for BRAF V600E Mutations in Papillary Thyroid Carcinomas." International Journal of Reliable and Quality E-Healthcare 4, no. 2 (2015): 12–30. http://dx.doi.org/10.4018/ijrqeh.2015040102.

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The assessment of BRAF V600E mutations is important for prognosis and treatment of Papillary Thyroid Carcinomas (PTC), the standard methods for their identification are molecular biology techniques. In this study, the potential of image morphometry applied to cell nuclei and sequentially the use of a Classification And Regression Tree (CART) is investigated, in order to: identify morphometric features useful to characterize BRAF mutations, and to eventually produce an algorithm identifying BRAF mutation status. The 140 studied cases had histological confirmation and known BRAF mutation status

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George, Ben, Bradley W. Taylor, Matthew Lasowski, et al. "Prognostic effect of specific RAS/BRAF mutations in patients (pts) with metastatic colorectal cancer (mCRC)." Journal of Clinical Oncology 38, no. 15_suppl (2020): 4050. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.4050.

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4050 Background: Somatic mutations in KRAS, HRAS, NRAS (extended RAS) and BRAF have prognostic and predictive impact in pts with mCRC. We analyzed the prognostic impact of specific somatic mutations in extended RAS and BRAF. Methods: We retrospectively reviewed the electronic medical records of pts with mCRC at our institution who underwent comprehensive genomic profiling (CGP) utilizing the Foundation One assay. DNA was extracted from clinical specimens and CGP was performed on hybrid-capture, adaptor ligation-based libraries for up to 315 genes plus 47 introns from 19 genes frequently rearra

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Kim, Min Jhi, Jin Kyong Kim, Gi Jeong Kim, et al. "TERT Promoter and BRAF V600E Mutations in Papillary Thyroid Cancer: A Single-Institution Experience in Korea." Cancers 14, no. 19 (2022): 4928. http://dx.doi.org/10.3390/cancers14194928.

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Telomerase reverse transcriptase (TERT) promoter mutation has been investigated for its clinical and prognostic significance in aggressive papillary thyroid cancer (PTC). In this study, we aimed to assess the prevalence, clinicopathologic features, and treatment outcomes of TERT mutation-positive PTCs along with the common BRAF V600E mutation. We performed mutational analyses for BRAF and the TERT promoter in thyroid cancer patients who had undergone surgery at our institution since 2019. We reviewed and analyzed 7797 patients with PTC in this study. The prevalence of BRAF V600E and TERT promo

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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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Ozer, Erdener, Akin Sevinc, Dilek Ince, Resmiye Yuzuguldu, and Nur Olgun. "BRAF V600E Mutation: A Significant Biomarker for Prediction of Disease Relapse in Pediatric Langerhans Cell Histiocytosis." Pediatric and Developmental Pathology 22, no. 5 (2019): 449–55. http://dx.doi.org/10.1177/1093526619847859.

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Langerhans cell histiocytosis (LCH) is a rare disease presenting with usually a localized disease but sometimes a widespread aggressive disorder especially in children. Among the somatic mutations in RAF-MEK-ERK pathway, especially BRAF mutation has been detected so far in LCH. We aimed in this study to investigate the prognostic significance of the mutations of target genes playing a role in the RAF-MEK-ERK pathway in pediatric LCH. Mutation analyses were performed on tumor DNA extracted from formalin-fixed paraffin-embedded biopsy specimens of 38 pediatric LCH cases using a direct sequencing

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Richtig, Georg, Ariane Aigelsreiter, Karl Kashofer, et al. "Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options." Case Reports in Oncology 9, no. 3 (2016): 543–46. http://dx.doi.org/10.1159/000449125.

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BRAF mutations occur in up to 50% of melanomas. Mutations in the BRAF gene directly influence the patient’s treatment because several inhibitors are available that only target BRAFV600 mutations. Herein, we describe two cases of patients with metastatic melanomas, each carrying a ‘nonstandard’ mutation in the BRAF gene: BRAFK601E and BRAFG466E, respectively. The first patient was treated with a MEK inhibitor and the second one with ipilimumab. However, not all BRAF mutations result in increased BRAF kinase activity, and clinical data for ‘nonstandard’ mutations, such as those described in our

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Lamy, A., E. Labourier, O. Prigneau, F. Di Fiore, R. Sesboüá, and J. Sabourin. "A method to assess KRAS/BRAF genotype in patients with metastatic colorectal cancer (mCRC) elligible for anti-EGFR therapies." Journal of Clinical Oncology 29, no. 4_suppl (2011): 383. http://dx.doi.org/10.1200/jco.2011.29.4_suppl.383.

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383 Background: KRAS/BRAF mutation screening is a new diagnostic tool since activating mutations, especially for KRAS, are strong negative predictive factors for anti-EGFR monoclonal antibody therapies. Therefore, standardized, reliable, and rapid mutation detection methods are needed. The goal of the present study is to evaluate the concordance between a clinically validated laboratory-developed KRAS/BRAF SNaPshot test and a novel research use assay, the Signature KRAS/BRAF Mutations kit (Asuragen Inc.), in representative clinical specimens. Methods: Genomic DNA from FFPE mCRC specimens previ

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Padmanabhan, Chandrasekhar, Kimberly Brown Dahlman, Jordan Berlin, et al. "BRAF mutations in colonic high-grade neuroendocrine carcinoma." Journal of Clinical Oncology 34, no. 4_suppl (2016): 612. http://dx.doi.org/10.1200/jco.2016.34.4_suppl.612.

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612 Background: The WHO 2010 has classified GI neuroendocrine neoplasms into well-differentiated neuroendocrine tumor (NET) and high-grade neuroendocrine carcinoma (NEC). NEC is more aggressive than NET. Whole genome sequencing (WGS) has provided insight into the genetic underpinnings of NET but little is known about NEC. The aim of this study is to perform genomic profiling of NEC to better characterize the underlying mutations in this aggressive disease. Methods: We identified 9 patients who underwent biopsy or resection for NEC between 1/2005 - 6/2013 with histological blocks available. WGS

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Lowe, Kimberly, Lauren C. Bylsma, Elizabeth D. Levin-Sparenberg, Laura Sangaré, Jon Fryzek, and Dominik D. Alexander. "Prevalence of KRAS, NRAS, and BRAF gene mutations in metastatic colorectal cancer patients: A systematic literature review and meta-analysis." Journal of Clinical Oncology 37, no. 4_suppl (2019): 523. http://dx.doi.org/10.1200/jco.2019.37.4_suppl.523.

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523 Background: A systematic literature review and meta-analysis was conducted to summarize the prevalence of KRAS, NRAS, and BRAF mutations in mCRC patients. These mutations have substantial implications for treatment decisions among mCRC patients. Methods: Multiple databases were searched to identify observational studies and clinical trials (standard of care arms only) that reported mutation status among mCRC patients. Random effects meta-analysis models were used to estimate summary prevalence estimates for each of the mutations. Subgroup and sensitivity analyses were conducted to identify

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Chimbangu, Clint Taonaishe, Li Xi, Zhou Ya, et al. "A literature review of a meta-analysis of BRAF mutations in non-small cell lung cancer." Medicine 103, no. 8 (2024): e34654. http://dx.doi.org/10.1097/md.0000000000034654.

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Background: The research on the relationship between the Braf Proto-oncogene (BRAF) mutation and lung cancer has generated conflicting findings. Nevertheless, there is an argument suggesting that assessing the BRAF status could offer benefits in terms of managing and prognosing individuals with non-small cell lung cancer (NSCLC). To present a comprehensive overview of this subject, we undertook an up-to-date meta-analysis of pertinent publications. Methods: We conducted an extensive literature search utilizing Medical Subject Headings keywords, namely “BRAF”, “mutation”, “lung”, “tumor”, “NSCL

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Zhang, Xuefei, Mo Li, Desheng Lv, et al. "Identification of a novel BRAF Thr599dup mutation in lung adenocarcinoma." Open Medicine 13, no. 1 (2018): 278–80. http://dx.doi.org/10.1515/med-2018-0042.

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AbstractBRAF mutations are known as oncogenic drivers of non-small cell lung cancer (NSCLC). BRAF inhibition has demonstrated anti-tumor activity in patients with BRAF V600E mutant NSCLC. Further molecular screening for novel BRAF thr599dup mutation is warranted. The novel BRAF Thr599dup gene mutation, for which the repeat amino acid-tyrosine is inserted between the 599th amino acid and the 600th amino acid in exon 15 of BRAF, was identified by next-generation sequencing (NGS) during routine clinical care in a lung carcinoma sample from an Asian never-smoker. Other putative driver alterations

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Stover, D. G., A. M. Cushman-Vokoun, C. L. Vnencak-Jones, and J. Berlin. "Analysis of BRAF and KRAS mutations in colorectal cancer and rectal carcinogenesis via fluorescent allele-specific PCR." Journal of Clinical Oncology 29, no. 4_suppl (2011): 436. http://dx.doi.org/10.1200/jco.2011.29.4_suppl.436.

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436 Background: Molecular analysis has become increasingly relevant in the evaluation of colorectal carcinomas. Mutations in Ras-MAPK pathway proteins KRAS (present in 30-40% of colorectal cancer) and BRAF (10-14% of colorectal cancer) or mismatch repair (MMR) enzymes can impact response to therapy and/or can assist in defining hereditary predisposition. High frequency microsatellite instability (MSI) in colorectal cancer is associated with improved outcomes. Targeted therapies against BRAF and other components of the Ras-MAPK signaling pathway are becoming important aspects of treatment in co

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Casula, Milena, Maria Colombino, Maria P. Satta, et al. "BRAF Gene Is Somatically Mutated but Does Not Make a Major Contribution to Malignant Melanoma Susceptibility: The Italian Melanoma Intergroup Study." Journal of Clinical Oncology 22, no. 2 (2004): 286–92. http://dx.doi.org/10.1200/jco.2004.07.112.

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Purpose Oncogenic activation of the BRAF gene has been demonstrated to be involved in the pathogenesis of malignant melanoma (MM). In this study, we investigated the contribution of BRAF to melanoma susceptibility, also making a comparison with frequency of CDKN2A germline mutations in MM patients from different areas in Italy. Patients and Methods Using a combination of denaturing high-performance liquid chromatography analysis and automated sequencing on genomic DNA from peripheral blood or tumor tissue samples, 569 MM patients (211 from northern Italy and 358 from southern Italy) were scree

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Mayrhofer, Johanna E., Florian Enzler, Andreas Feichtner, et al. "Mutation-oriented profiling of autoinhibitory kinase conformations predicts RAF inhibitor efficacies." Proceedings of the National Academy of Sciences 117, no. 49 (2020): 31105–13. http://dx.doi.org/10.1073/pnas.2012150117.

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Kinase-targeted therapies have the potential to improve the survival of patients with cancer. However, the cancer-specific spectrum of kinase alterations exhibits distinct functional properties and requires mutation-oriented drug treatments. Besides post-translational modifications and diverse intermolecular interactions of kinases, it is the distinct disease mutation which reshapes full-length kinase conformations, affecting their activity. Oncokinase mutation profiles differ between cancer types, as it was shown for BRAF in melanoma and non–small-cell lung cancers. Here, we present the targe

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Li, Wendong, Yanzhi Cui, Fei Yin, et al. "BRAF mutation in Chinese biliary tract cancer patients." Journal of Clinical Oncology 38, no. 15_suppl (2020): e16678-e16678. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e16678.

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e16678 Background: Biliary tract cancers (BTCs) are a group of relatively rare invasive carcinomas including gallbladder carcinoma (GBC), intrahepatic (ICC), hilar (HCCA), and extrahepatic (ECC) cholangiocarcinoma. In the ROAR basket trial, dabrafenib, a BRAF inhibitor, combined with trametinib, a MEK inhibitor, demonstrated promising efficacy in patients with BTCs with an overall response rate (ORR) of 41% and a favorable safety profile. The frequency of BRAF mutations reported in BTC varies widely, and BRAF V600E mutations have been reported in 0% to 20% of BTCs. However, the frequencies of

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Abdelgadir, Omer, Yong-Fang Kuo, Anthony O. Okorodudu, M. Firoze Khan, Yu-Wei Cheng, and Jianli Dong. "KRAS, NRAS, and BRAF Hot-Spot Mutations in Relation to Sidedness of Primary Colorectal Cancer: A Retrospective Cohort Study." Diagnostics 15, no. 2 (2025): 142. https://doi.org/10.3390/diagnostics15020142.

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Background/Objective: Studies have shown an association between colorectal cancer (CRC) sidedness and gene mutations that may affect CRC clinical behavior. This study examined the association between specific KRAS, NRAS, and BRAF hot-spot mutations and primary CRC sidedness. Methods: We performed a retrospective cohort analysis of 722 patients diagnosed with primary CRC and tested for KRAS, NRAS, and BRAF hot-spot mutations at the University of Texas Medical Branch (UTMB) from January 2016 through July 2023. Multivariable logistic regressions analyses were conducted. Results:KRAS, NRAS, and BR

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Baltruškevičienė, Edita, Ugnius Mickys, Tadas Žvirblis, Rokas Stulpinas, Teresė Pipirienė Želvienė, and Eduardas Aleknavičius. "Significance of KRAS, NRAS, BRAF and PIK3CA mutations in metastatic colorectal cancer patients receiving Bevacizumab: a single institution experience." Acta medica Lituanica 23, no. 1 (2016): 24–34. http://dx.doi.org/10.6001/actamedica.v23i1.3267.

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Background. KRAS mutation is an important predictive and prognostic factor for patients receiving anti-EGFR therapy. An expanded KRAS, NRAS, BRAF, PIK3CA mutation analysis provides additional prognostic information, but its role in predicting bevacizumab efficacy is unclear. The aim of our study was to evaluate the incidence of KRAS, NRAS, BRAF and PIK3CA mutations in metastatic colorectal cancer patients receiving first line oxaliplatin based chemotherapy with or without bevacizumab and to evaluate their prognostic and predictive significance. Methods. 55 patients with the first-time diagnose

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Rusinek, Dagmara, Aleksandra Pfeifer, Jolanta Krajewska, et al. "Coexistence of TERT Promoter Mutations and the BRAF V600E Alteration and Its Impact on Histopathological Features of Papillary Thyroid Carcinoma in a Selected Series of Polish Patients." International Journal of Molecular Sciences 19, no. 9 (2018): 2647. http://dx.doi.org/10.3390/ijms19092647.

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TERT promoter (TERTp) mutations are important factors in papillary thyroid carcinomas (PTCs). They are associated with tumor aggressiveness, recurrence, and disease-specific mortality and their use in risk stratification of PTC patients has been proposed. In this study we investigated the prevalence of TERTp mutations in a cohort of Polish patients with PTCs and the association of these mutations with histopathological factors, particularly in coexistence with the BRAF V600E mutation. A total of 189 consecutive PTC specimens with known BRAF mutational status were evaluated. TERTp mutations wer

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