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Cited by 14Melanoma and MAPK PathwaysLung Cancer Treatments and MutationsCancer Genomics and Diagnostics

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Expert consensus on the diagnosis and treatment of solid tumors with BRAF mutations

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Wang, Wenxian, Lian, Bin, Xu, Chunwei, Wang, Qian, Li, Ziming, Zheng, Nan, Liu, Aijun, Yu, Jinpu, Zhong, Wenzhao, Wang, Zhijie, Zhang, Yongchang, Liu, Jingjing, Zhang, Shirong, Cai, Xiuyu, Liu, Anwen, Li, Wen, Mao, Lili, Zhan, Ping, Liu, Hongbing, Lv, Tangfeng, Miao, Liyun, Min, Lingfeng, Chen, Yu, Yuan, Jingping, Wang, Feng, Jiang, Zhansheng, Lin, Gen, Huang, Long, Pu, Xingxiang, Lin, Rongbo, Liu, Weifeng, Rao, Chuangzhou, Lv, Dongqing, Yu, Zongyang, Li, Xiaoyan, Tang, Chuanhao, Zhou, Chengzhi, Zhang, Junping, Xue, Junli, Guo, Hui, Chu, Qian, Meng, Rui, Liu, Xuewen, Wu, Jingxun, Zhang, Rui, Zhou, Jin, Zhu, Zhengfei, Li, Yongheng, Qiu, Hong, Xia, Fan, Lu, Yuanyuan, Chen, Xiaofeng, Feng, Jian, Ge, Rui, Dai, Enyong, Han, Yu, Pan, Weiwei, Pang, Fei, Huang, Xin, Hu, Meizhen, Hao, Qing, Wang, Kai, Wu, Fan, Song, Binbin, Xu, Bingwei, Wang, Liping, Zhu, Youcai, Lin, Li, Xie, Yanru, Lin, Xinqing, Cai, Jing, Xu, Ling, Li, Jisheng, Jiao, Xiaodong, Li, Kainan, Wei, Jia, Feng, Huijing, Wang, Lin, Du, Yingying, Yao, Wang, Shi, Xuefei, Niu, Xiaomin, Yuan, Dongmei, Yao, Yanwen, Huang, Jianhui, Feng, Yue, Zhang, Yinbin, Sun, Pingli, Wang, Hong, Ye, Mingxiang, Wang, Dong, Wang, Zhaofeng, Hao, Yue, Wang, Zhen, Wan, Bin, Lv, Donglai, Yang, Shengjie, Kang, Jin, Zhang, Jiatao, Zhang, Chao, Li, Wenfeng, Fu, Jianfei, Wu, Lizhi, Lan, Shijie, Ou, Juanjuan, Shi, Lin, Zhai, Zhanqiang, Wang, Yina, Li, Bihui, Zhang, Zhang, Wang, Ke, Ma, Xuelei, Li, Zhongwu, Liu, Zhefeng, Yang, Nong, Wu, Lin, Wang, Huijuan, Jin, Gu, Wang, Guansong, Wang, Jiandong, Shi, Hubing, Fang, Meiyu, Fang, Yong, Li, Yuan, Wang, Xiaojia, Chen, Jing, Zhang, Yiping, Zhu, Xixu, Shen, Yi, Ma, Shenglin, Wang, Biyun, Song, Yong, Song, Zhengbo, Fang, Wenfeng, Lu, Yuanzhi, Si, Lu·2024·The Innovation
DOI 10.1016/j.xinn.2024.100661PMC PMC11551471
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Abstract

The BRAF gene is an important signaling molecule in human cells that is involved in the regulation of cell growth, differentiation, and survival. When the BRAF gene mutates, it can lead to abnormal activation of the signaling pathway, which promotes cell proliferation, inhibits cell apoptosis, and ultimately contributes to the occurrence and development of cancer. BRAF mutations are widely present in various cancers, including malignant melanoma, thyroid cancer, colorectal cancer, non-small cell lung cancer, and hairy cell leukemia, among others. BRAF is an important target for the treatment of various solid tumors, and targeted combination therapies, represented by BRAF inhibitors, have become one of the main treatment modalities for a variety of BRAF-mutation-positive solid tumors. Dabrafenib plus trametinib, as the first tumor-agnostic therapy, has been approved by the US Food and Drug Administration for the treatment of adult and pediatric patients aged 6 years and older harboring a BRAF V600E mutation with unresectable or metastatic solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options. This is also the first time a BRAF/MEK inhibitor combination has been approved for use in pediatric patients. As research into the diagnosis and treatment of BRAF mutations advances, standardizing the detection of BRAF mutations and the clinical application of BRAF inhibitors becomes increasingly important. Therefore, we have established a universal and systematic strategy for diagnosing and treating solid tumors with BRAF mutations. In this expert consensus, we (1) summarize the epidemiology and clinical characteristics of BRAF mutations in different solid tumors, (2) provide recommendations for the selection of genetic testing methods and platforms, and (3) establish a universal strategy for the diagnosis and treatment of patients with solid tumors harboring BRAF mutations.

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  • BRAF mutation results in abnormal signaling pathways, leading to cell proliferation and inhibition of apoptosis by constitutively activating the MAPK pathway.

    “It is involved in the regulation of cell differentiation, cell growth, and cell survival; as such, the BRAF mutation results in abnormal signaling pathways, leading to cell proliferation and inhibition of apoptosis by constitutively activating the MAPK pathway [17,23].”

    From Overcoming Resistance to Anti-EGFR Therapies: Mechanisms of Cetuximab and Panitumumab Resistance and Emerging Combination Strategies (2026) · cites this paper as [23]

    The Introduction says BRAF mutations can persistently activate the MAPK pathway and cause uncontrolled cell proliferation. The 'Autophagy and apoptosis' section says this activation affects apoptosis, but does not establish that it inhibits apoptosis; the explicit inhibition statement appears only in the Abstract, which is excluded as evidence under the supplied rubric. Page numbers were not provided. (LLM, conf=0.82)

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Research works printed but not linked: 142

  1. Burotto, 2014, The MAPK pathway across different malignancies: a new perspective, Cancer, 120, 3446, 10.1002/cncr.28864 · DOI
  2. Hall, 2014, BRAF mutations: signaling, epidemiology, and clinical experience in multiple malignancies, Cancer Control, 21, 221, 10.1177/107327481402100307 · DOI
  3. Turski, 2016, Genomically Driven Tumors and Actionability across Histologies: BRAF-Mutant Cancers as a Paradigm, Mol. Cancer Therapeut., 15, 533, 10.1158/1535-7163.MCT-15-0643 · DOI
  4. Pratilas, 2012, Targeting oncogenic BRAF in human cancer, Curr. Top. Microbiol. Immunol., 355, 83
  5. Lin, 2021, Mutational spectrum and precision oncology for biliary tract carcinoma, Theranostics, 11, 4585, 10.7150/thno.56539 · DOI
  6. Dankner, 2018, Classifying BRAF alterations in cancer: new rational therapeutic strategies for actionable mutations, Oncogene, 37, 3183, 10.1038/s41388-018-0171-x · DOI
  7. Liu, 2020, BRAF mutation and its inhibitors in sarcoma treatment, Cancer Med., 9, 4881, 10.1002/cam4.3103 · DOI
  8. Schirripa, 2019, Class 1, 2, and 3 BRAF-Mutated Metastatic Colorectal Cancer: A Detailed Clinical, Pathologic, and Molecular Characterization, Clin. Cancer Res., 25, 3954, 10.1158/1078-0432.CCR-19-0311 · DOI
  9. Ito, 2019, Intra- and Inter-Tumor BRAF Heterogeneity in Acral Melanoma: An Immunohistochemical Analysis, Int. J. Mol. Sci., 20, 10.3390/ijms20246191 · DOI
  10. Kopetz, 2022, Quality of life with encorafenib plus cetuximab with or without binimetinib treatment in patients with BRAF V600E-mutant metastatic colorectal cancer: patient-reported outcomes from BEACON CRC, ESMO Open, 7, 10.1016/j.esmoop.2022.100477 · DOI
  11. Ihle, 2014, Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations, BMC Cancer, 14, 13, 10.1186/1471-2407-14-13 · DOI
  12. Gao, 2016, Comparison of Next-Generation Sequencing, Quantitative PCR, and Sanger Sequencing for Mutation Profiling of EGFR, KRAS, PIK3CA and BRAF in Clinical Lung Tumors, Clin. Lab., 62, 689
  13. Lung, 2020, A highly sensitive and specific real-time quantitative PCR for BRAF V600E/K mutation screening, Sci. Rep., 10, 10.1038/s41598-020-72809-7 · DOI
  14. Kim, 2017, Comparison Between Real-Time PCR and Pyrosequencing for Detection of BRAF V600E Mutation in Thyroid Fine-Needle Aspirates, Appl. Immunohistochem. Mol. Morphol., 25, 358, 10.1097/PAI.0000000000000308 · DOI
  15. Ritterhouse, 2015, BRAF V600E mutation-specific antibody: A review, Semin. Diagn. Pathol., 32, 400, 10.1053/j.semdp.2015.02.010 · DOI
  16. Surrey, 2019, Next-Generation Sequencing (NGS) Methods Show Superior or Equivalent Performance to Non-NGS Methods on BRAF, EGFR, and KRAS Proficiency Testing Samples, Arch. Pathol. Lab Med., 143, 980, 10.5858/arpa.2018-0394-CP · DOI
  17. Crick, 1970, Central dogma of molecular biology, Nature, 227, 561, 10.1038/227561a0 · DOI · Paper page
  18. Bruno, 2020, Next Generation Sequencing for Gene Fusion Analysis in Lung Cancer: A Literature Review, Diagnostics, 10, 10.3390/diagnostics10080521 · DOI
  19. Singh, 2022, Target Enrichment Approaches for Next-Generation Sequencing Applications in Oncology, Diagnostics, 12, 10.3390/diagnostics12071539 · DOI
  20. Heydt, 2021, Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation, BMC Med. Genom., 14, 62, 10.1186/s12920-021-00909-y · DOI
  21. Auliac, 2020, Efficacy of Dabrafenib Plus Trametinib Combination in Patients with BRAF V600E-Mutant NSCLC in Real-World Setting: GFPC 01-2019, Cancers, 12, 10.3390/cancers12123608 · DOI
  22. Frazer, 2022, Delphi panel for consensus on the optimal management of dabrafenib plus trametinib-related pyrexia in patients with melanoma, Ther. Adv. Med. Oncol., 14, 10.1177/17588359221127681 · DOI
  23. Chapman, 2017, Vemurafenib in patients with BRAFV600 mutation-positive metastatic melanoma: final overall survival results of the randomized BRIM-3 study, Ann. Oncol., 28, 2581, 10.1093/annonc/mdx339 · DOI
  24. Nazarian, 2010, Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation, Nature, 468, 973, 10.1038/nature09626 · DOI
  25. Johnson, 2015, Acquired BRAF inhibitor resistance: A multicenter meta-analysis of the spectrum and frequencies, clinical behaviour, and phenotypic associations of resistance mechanisms, Eur. J. Cancer, 51, 2792, 10.1016/j.ejca.2015.08.022 · DOI
  26. Lavoie, 2015, Regulation of RAF protein kinases in ERK signalling, Nat. Rev. Mol. Cell Biol., 16, 281, 10.1038/nrm3979 · DOI · Paper page
  27. Wang, 2015, Towards pathway-centric cancer therapies via pharmacogenomic profiling analysis of ERK signalling pathway, Clin. Transl. Med., 4, 66, 10.1186/s40169-015-0066-1 · DOI
  28. Villalona-Calero, 2016, Oncolytic reovirus in combination with chemotherapy in metastatic or recurrent non-small cell lung cancer patients with KRAS-activated tumors, Cancer, 122, 875, 10.1002/cncr.29856 · DOI
  29. Mochizuki, 2015, Comparative Aspects of BRAF Mutations in Canine Cancers, Vet. Sci., 2, 231, 10.3390/vetsci2030231 · DOI
  30. Morchio, 1988, [Boxing compared: wax, alginate or plaster?], Attual Dent, 4, 16-24
  31. Davies, 2002, Mutations of the BRAF gene in human cancer, Nature, 417, 949, 10.1038/nature00766 · DOI · Paper page
  32. Ho, 2017, Acquired BRAF V600E Mutation as Resistant Mechanism after Treatment with Osimertinib, J. Thorac. Oncol., 12, 567, 10.1016/j.jtho.2016.11.2231 · DOI
  33. Yaeger, 2019, Targeting Alterations in the RAF-MEK Pathway, Cancer Discov., 9, 329, 10.1158/2159-8290.CD-18-1321 · DOI
  34. Yao, 2015, BRAF Mutants Evade ERK-Dependent Feedback by Different Mechanisms that Determine Their Sensitivity to Pharmacologic Inhibition, Cancer Cell, 28, 370, 10.1016/j.ccell.2015.08.001 · DOI · Paper page
  35. Nieto, 2017, A Braf kinase-inactive mutant induces lung adenocarcinoma, Nature, 548, 239, 10.1038/nature23297 · DOI
  36. Summers, 2017, BRAF and NRAS Locus-Specific Variants Have Different Outcomes on Survival to Colorectal Cancer, Clin. Cancer Res., 23, 2742, 10.1158/1078-0432.CCR-16-1541 · DOI
  37. Cremolini, 2015, BRAF codons 594 and 596 mutations identify a new molecular subtype of metastatic colorectal cancer at favorable prognosis, Ann. Oncol., 26, 2092, 10.1093/annonc/mdv290 · DOI
  38. Zhang, 2020, Oncogenic mutations within the β3-αC loop of EGFR/ERBB2/BRAF/MAP2K1 predict response to therapies, Mol. Genet. Genomic Med., 8, 10.1002/mgg3.1395 · DOI
  39. Foster, 2016, Activation Mechanism of Oncogenic Deletion Mutations in BRAF, EGFR, and HER2, Cancer Cell, 29, 477, 10.1016/j.ccell.2016.02.010 · DOI
  40. Chmielecki, 2014, Comprehensive genomic profiling of pancreatic acinar cell carcinomas identifies recurrent RAF fusions and frequent inactivation of DNA repair genes, Cancer Discov., 4, 1398, 10.1158/2159-8290.CD-14-0617 · DOI
  41. Hasselblatt, 2011, BRAF-KIAA1549 fusion transcripts are less frequent in pilocytic astrocytomas diagnosed in adults, Neuropathol. Appl. Neurobiol., 37, 803, 10.1111/j.1365-2990.2011.01193.x · DOI
  42. Ross, 2016, The distribution of BRAF gene fusions in solid tumors and response to targeted therapy, Int. J. Cancer, 138, 881, 10.1002/ijc.29825 · DOI
  43. Zehir, 2017, Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients, Nat. Med., 23, 703, 10.1038/nm.4333 · DOI · Paper page
  44. Ascierto, 2012, The role of BRAF V600 mutation in melanoma, J. Transl. Med., 10, 85, 10.1186/1479-5876-10-85 · DOI
  45. Bai, 2017, MAPK Pathway and TERT Promoter Gene Mutation Pattern and Its Prognostic Value in Melanoma Patients: A Retrospective Study of 2,793 Cases, Clin. Cancer Res., 23, 6120, 10.1158/1078-0432.CCR-17-0980 · DOI
  46. Lian, 2017, The natural history and patterns of metastases from mucosal melanoma: an analysis of 706 prospectively-followed patients, Ann. Oncol., 28, 868, 10.1093/annonc/mdw694 · DOI
  47. Si, 2012, Prevalence of BRAF V600E mutation in Chinese melanoma patients: large scale analysis of BRAF and NRAS mutations in a 432-case cohort, Eur. J. Cancer, 48, 94, 10.1016/j.ejca.2011.06.056 · DOI
  48. Menzies, 2012, Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma, Clin. Cancer Res., 18, 3242, 10.1158/1078-0432.CCR-12-0052 · DOI
  49. Kimura, 2003, High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma, Cancer Res., 63, 1454
  50. Nikiforova, 2003, BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas, J. Clin. Endocrinol. Metab., 88, 5399, 10.1210/jc.2003-030838 · DOI
  51. Xing, 2005, BRAF mutation in thyroid cancer, Endocr. Relat. Cancer, 12, 245, 10.1677/erc.1.0978 · DOI
  52. Hou, 2007, Functional characterization of the T1799-1801del and A1799-1816ins BRAF mutations in papillary thyroid cancer, Cell Cycle, 6, 377, 10.4161/cc.6.3.3818 · DOI
  53. Ding, 2017, Clinicopathologic characteristics and outcomes of Chinese patients with non-small-cell lung cancer and BRAF mutation, Cancer Med., 6, 555, 10.1002/cam4.1014 · DOI
  54. Mazieres, 2020, Vemurafenib in non-small-cell lung cancer patients with BRAF(V600) and BRAF(nonV600) mutations, Ann. Oncol., 31, 289, 10.1016/j.annonc.2019.10.022 · DOI
  55. Lin, 2019, The association between BRAF mutation class and clinical features in BRAF-mutant Chinese non-small cell lung cancer patients, J. Transl. Med., 17, 298, 10.1186/s12967-019-2036-7 · DOI
  56. Marchetti, 2011, Clinical features and outcome of patients with non-small-cell lung cancer harboring BRAF mutations, J. Clin. Oncol., 29, 3574, 10.1200/JCO.2011.35.9638 · DOI
  57. Myall, 2019, Natural Disease History, Outcomes, and Co-mutations in a Series of Patients With BRAF-Mutated Non-small-cell Lung Cancer, Clin. Lung Cancer, 20, e208, 10.1016/j.cllc.2018.10.003 · DOI
  58. Yokota, 2011, BRAF mutation is a powerful prognostic factor in advanced and recurrent colorectal cancer, Br. J. Cancer, 104, 856, 10.1038/bjc.2011.19 · DOI
  59. Sanz-Garcia, 2017, BRAF mutant colorectal cancer: prognosis, treatment, and new perspectives, Ann. Oncol., 28, 2648, 10.1093/annonc/mdx401 · DOI
  60. Slattery, 2001, Estrogens reduce and withdrawal of estrogens increase risk of microsatellite instability-positive colon cancer, Cancer Res., 61, 126
  61. Samowitz, 2006, Association of smoking, CpG island methylator phenotype, and V600E BRAF mutations in colon cancer, J. Natl. Cancer Inst., 98, 1731, 10.1093/jnci/djj468 · DOI
  62. Limsui, 2010, Cigarette smoking and colorectal cancer risk by molecularly defined subtypes, J. Natl. Cancer Inst., 102, 1012, 10.1093/jnci/djq201 · DOI
  63. Benedix, 2010, Comparison of 17,641 patients with right- and left-sided colon cancer: differences in epidemiology, perioperative course, histology, and survival, Dis. Colon Rectum, 53, 57, 10.1007/DCR.0b013e3181c703a4 · DOI
  64. Shen, 2013, Effectors of epidermal growth factor receptor pathway: the genetic profiling ofKRAS, BRAF, PIK3CA, NRAS mutations in colorectal cancer characteristics and personalized medicine, PLoS One, 8, 10.1371/journal.pone.0081628 · DOI
  65. Kambara, 2004, BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum, Gut, 53, 1137, 10.1136/gut.2003.037671 · DOI
  66. Jones, 2017, Non-V600) BRAF Mutations Define a Clinically Distinct Molecular Subtype of Metastatic Colorectal Cancer, J. Clin. Oncol., 35, 2624, 10.1200/JCO.2016.71.4394 · DOI
  67. Velho, 2008, BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis?, BMC Cancer, 8, 255, 10.1186/1471-2407-8-255 · DOI
  68. McCourt, 2013, Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis, PLoS One, 8, 10.1371/journal.pone.0069604 · DOI
  69. Qiu, 2015, Detection of BRAF mutation in Chinese tumor patients using a highly sensitive antibody immunohistochemistry assay, Sci. Rep., 5, 9211, 10.1038/srep09211 · DOI
  70. Sasaki, 2013, Usefulness of immunohistochemistry for the detection of the BRAF V600E mutation in Japanese lung adenocarcinoma, Lung Cancer, 82, 51, 10.1016/j.lungcan.2013.06.014 · DOI
  71. Liu, 2014, Immunohistochemical detection of the BRAF V600E mutation in melanoma patients with monoclonal antibody VE1, Pathol. Int., 64, 601, 10.1111/pin.12215 · DOI
  72. Capper, 2011, Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody, Acta Neuropathol., 122, 11, 10.1007/s00401-011-0841-z · DOI
  73. Yaman, 2016, BRAF-V600 Mutation Heterogeneity in Primary and Metastatic Melanoma: A Study With Pyrosequencing and Immunohistochemistry, Am. J. Dermatopathol., 38, 113, 10.1097/DAD.0000000000000404 · DOI
  74. Manfredi, 2016, Highly Concordant Results Between Immunohistochemistry and Molecular Testing of Mutated V600E BRAF in Primary and Metastatic Melanoma, Acta Derm. Venereol., 96, 630, 10.2340/00015555-2326 · DOI
  75. Eriksson, 2015, BRAFV600E protein expression in primary cutaneous malignant melanomas and paired metastases, JAMA Dermatol., 151, 410, 10.1001/jamadermatol.2014.3689 · DOI
  76. Kakavand, 2016, BRAF(V600E) and NRAS(Q61L/Q61R) mutation analysis in metastatic melanoma using immunohistochemistry: a study of 754 cases highlighting potential pitfalls and guidelines for interpretation and reporting, Histopathology, 69, 680, 10.1111/his.12992 · DOI
  77. Tetzlaff, 2015, Utility of BRAF V600E Immunohistochemistry Expression Pattern as a Surrogate of BRAF Mutation Status in 154 Patients with Advanced Melanoma, Hum. Pathol., 46, 1101, 10.1016/j.humpath.2015.04.012 · DOI
  78. Zheng, 2014, Anchored multiplex PCR for targeted next-generation sequencing, Nat. Med., 20, 1479, 10.1038/nm.3729 · DOI
  79. Hasegawa, 2021, Highly sensitive fusion detection using plasma cell-free RNA in non-small-cell lung cancers, Cancer Sci., 112, 4393, 10.1111/cas.15084 · DOI
  80. Heyer, 2019, Diagnosis of fusion genes using targeted RNA sequencing, Nat. Commun., 10, 1388, 10.1038/s41467-019-09374-9 · DOI
  81. Northcott, 2012, Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples, Acta Neuropathol., 123, 615, 10.1007/s00401-011-0899-7 · DOI
  82. Benayed, 2019, High Yield of RNA Sequencing for Targetable Kinase Fusions in Lung Adenocarcinomas with No Mitogenic Driver Alteration Detected by DNA Sequencing and Low Tumor Mutation Burden, Clin. Cancer Res., 25, 4712, 10.1158/1078-0432.CCR-19-0225 · DOI
  83. Demetri, 2022, Updated Integrated Analysis of the Efficacy and Safety of Entrectinib in Patients With NTRK Fusion-Positive Solid Tumors, Clin. Cancer Res., 28, 1302, 10.1158/1078-0432.CCR-21-3597 · DOI
  84. Guo, 2018, Heterogeneous mutation pattern in tumor tissue and circulating tumor DNA warrants parallel NGS panel testing, Mol. Cancer, 17, 131, 10.1186/s12943-018-0875-0 · DOI
  85. Jennings, 2017, Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists, J. Mol. Diagn., 19, 341, 10.1016/j.jmoldx.2017.01.011 · DOI
  86. Nikanjam, 2022, Liquid biopsy: current technology and clinical applications, J. Hematol. Oncol., 15, 131, 10.1186/s13045-022-01351-y · DOI
  87. Serratì, 2016, Next-generation sequencing: advances and applications in cancer diagnosis, OncoTargets Ther., 9, 7355, 10.2147/OTT.S99807 · DOI
  88. Normanno, 2018, The liquid biopsy in the management of colorectal cancer patients: Current applications and future scenarios, Cancer Treat Rev., 70, 1, 10.1016/j.ctrv.2018.07.007 · DOI
  89. Pessoa, 2020, ctDNA as a cancer biomarker: A broad overview, Crit. Rev. Oncol. Hematol., 155, 10.1016/j.critrevonc.2020.103109 · DOI
  90. Thierry, 2014, Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA, Nat. Med., 20, 430, 10.1038/nm.3511 · DOI
  91. Angerilli, 2021, The Role of the Pathologist in the Next-Generation Era of Tumor Molecular Characterization, Diagnostics, 11, 10.3390/diagnostics11020339 · DOI
  92. Ring, 2023, Biology, vulnerabilities and clinical applications of circulating tumour cells, Nat. Rev. Cancer, 23, 95, 10.1038/s41568-022-00536-4 · DOI
  93. Mohamed Suhaimi, 2015, Non-invasive sensitive detection of KRAS and BRAF mutation in circulating tumor cells of colorectal cancer patients, Mol. Oncol., 9, 850, 10.1016/j.molonc.2014.12.011 · DOI
  94. Kidess-Sigal, 2016, Enumeration and targeted analysis of KRAS, BRAF and PIK3CA mutations in CTCs captured by a label-free platform: Comparison to ctDNA and tissue in metastatic colorectal cancer, Oncotarget, 7, 85349, 10.18632/oncotarget.13350 · DOI
  95. Po, 2021, Single-Cell Analysis of BRAF(V600E) and NRAS(Q61R) Mutation Status in Melanoma Cell Lines as Method Generation for Circulating Melanoma Cells, Methods Mol. Biol., 2265, 277, 10.1007/978-1-0716-1205-7_21 · DOI
  96. Sakaizawa, 2012, Mutation analysis of BRAF and KIT in circulating melanoma cells at the single cell level, Br. J. Cancer, 106, 939, 10.1038/bjc.2012.12 · DOI
  97. Deng, 2024, [Progress of BRAF Gene Alteration in Non-small Cell Lung Cancer], Zhongguo fei ai za zhi, 27, 73
  98. Oi, 2022, KRAS G12V mutation as an acquired resistance mechanism after treatment with dabrafenib and trametinib in non-small cell lung cancer harbouring the BRAF V600E mutation: a case report, Precis. Cancer Med., 5, 18, 10.21037/pcm-21-55 · DOI
  99. Izquierdo, 2022, DIPG Harbors Alterations Targetable by MEK Inhibitors, with Acquired Resistance Mechanisms Overcome by Combinatorial Inhibition, Cancer Discov., 12, 712, 10.1158/2159-8290.CD-20-0930 · DOI
  100. Irvine, 2018, Oncogenic PI3K/AKT promotes the step-wise evolution of combination BRAF/MEK inhibitor resistance in melanoma, Oncogenesis, 7, 72, 10.1038/s41389-018-0081-3 · DOI
  101. Dhanyamraju, 2022, Melanoma therapeutics: a literature review, J. Biomed. Res., 36, 77
  102. van Zeijl, 2017, (Neo)adjuvant systemic therapy for melanoma, Eur. J. Surg. Oncol., 43, 534, 10.1016/j.ejso.2016.07.001 · DOI
  103. Austin, 2017, Laser and light-based therapy for cutaneous and soft-tissue metastases of malignant melanoma: a systematic review, Arch. Dermatol. Res., 309, 229, 10.1007/s00403-017-1720-9 · DOI
  104. Hauschild, 2012, Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial, Lancet, 380, 358, 10.1016/S0140-6736(12)60868-X · DOI
  105. Dummer, 2020, Five-Year Analysis of Adjuvant Dabrafenib plus Trametinib in Stage III Melanoma, N. Engl. J. Med., 383, 1139, 10.1056/NEJMoa2005493 · DOI
  106. Chapman, 2011, Improved survival with vemurafenib in melanoma with BRAF V600E mutation, N. Engl. J. Med., 364, 2507, 10.1056/NEJMoa1103782 · DOI · Paper page
  107. Ascierto, 2016, Cobimetinib combined with vemurafenib in advanced BRAF(V600)-mutant melanoma (coBRIM): updated efficacy results from a randomised, double-blind, phase 3 trial, Lancet Oncol., 17, 1248, 10.1016/S1470-2045(16)30122-X · DOI
  108. Gutzmer, 2020, Atezolizumab, vemurafenib, and cobimetinib as first-line treatment for unresectable advanced BRAF(V600) mutation-positive melanoma (IMspire150): primary analysis of the randomised, double-blind, placebo-controlled, phase 3 trial, Lancet, 395, 1835, 10.1016/S0140-6736(20)30934-X · DOI · Paper page
  109. Dummer, 2018, Encorafenib plus binimetinib versus vemurafenib or encorafenib in patients with BRAF-mutant melanoma (COLUMBUS): a multicentre, open-label, randomised phase 3 trial, Lancet Oncol., 19, 603, 10.1016/S1470-2045(18)30142-6 · DOI
  110. Behranvand, 2022, Chemotherapy: a double-edged sword in cancer treatment, Cancer Immunol. Immunother., 71, 507, 10.1007/s00262-021-03013-3 · DOI
  111. Cherri, 2023, Optimizing the first-line treatment for metastatic colorectal cancer, Front. Oncol., 13, 10.3389/fonc.2023.1246716 · DOI
  112. Stintzing, 2023, FOLFOXIRI Plus Cetuximab or Bevacizumab as First-Line Treatment of BRAF(V600E)-Mutant Metastatic Colorectal Cancer: The Randomized Phase II FIRE-4.5 (AIO KRK0116) Study, J. Clin. Oncol., 41, 4143, 10.1200/JCO.22.01420 · DOI
  113. Corcoran, 2015, Combined BRAF and MEK Inhibition With Dabrafenib and Trametinib in BRAF V600-Mutant Colorectal Cancer, J. Clin. Oncol., 33, 4023, 10.1200/JCO.2015.63.2471 · DOI · Paper page
  114. Corcoran, 2012, EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib, Cancer Discov., 2, 227, 10.1158/2159-8290.CD-11-0341 · DOI · Paper page
  115. Kopetz, 2021, Randomized Trial of Irinotecan and Cetuximab With or Without Vemurafenib in BRAF-Mutant Metastatic Colorectal Cancer (SWOG S1406), J. Clin. Oncol., 39, 285, 10.1200/JCO.20.01994 · DOI
  116. Kopetz, 2019, Encorafenib, Binimetinib, and Cetuximab in BRAF V600E-Mutated Colorectal Cancer, N. Engl. J. Med., 381, 1632, 10.1056/NEJMoa1908075 · DOI · Paper page
  117. Upadhya, 2021, Targeted drug therapy in non-small cell lung cancer: Clinical significance and possible solutions-Part I, Expet Opin. Drug Deliv., 18, 73, 10.1080/17425247.2021.1825377 · DOI
  118. Paik, 2011, Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations, J. Clin. Oncol., 29, 2046, 10.1200/JCO.2010.33.1280 · DOI
  119. Villaruz, 2015, Clinicopathologic features and outcomes of patients with lung adenocarcinomas harboring BRAF mutations in the Lung Cancer Mutation Consortium, Cancer, 121, 448, 10.1002/cncr.29042 · DOI
  120. Aboubakar Nana, 2021, Targeting BRAF Activation as Acquired Resistance Mechanism to EGFR Tyrosine Kinase Inhibitors in EGFR-Mutant Non-Small-Cell Lung Cancer, Pharmaceutics, 13, 1478, 10.3390/pharmaceutics13091478 · DOI
  121. Salama, 2020, Dabrafenib and Trametinib in Patients With Tumors With BRAFV600EMutations: Results of the NCI-MATCH Trial Subprotocol H, J. Clin. Oncol., 38, 3895, 10.1200/JCO.20.00762 · DOI
  122. Ren, 2022, Camrelizumab Plus Carboplatin and Paclitaxel as First-Line Treatment for Advanced Squamous NSCLC (CameL-Sq): A Phase 3 Trial, J. Thorac. Oncol., 17, 544, 10.1016/j.jtho.2021.11.018 · DOI
  123. Seto, 2020, Negative reactions of BRAF mutation-specific immunohistochemistry to non-V600E mutations of BRAF, Pathol. Int., 70, 253, 10.1111/pin.12903 · DOI
  124. Garzón-Orjuela, 2020, Efficacy and safety of dabrafenib-trametinib in the treatment of unresectable advanced/metastatic melanoma with BRAF-V600 mutation: A systematic review and network meta-analysis, Dermatol. Ther., 33, 10.1111/dth.13145 · DOI
  125. Gautschi, 2015, Targeted Therapy for Patients with BRAF-Mutant Lung Cancer: Results from the European EURAF Cohort, J. Thorac. Oncol., 10, 1451, 10.1097/JTO.0000000000000625 · DOI
  126. Ribeiro, 2021, Impressive response to dabrafenib, trametinib, and osimertinib in a metastatic EGFR-mutant/BRAF V600E lung adenocarcinoma patient, npj Precis. Oncol., 5, 5, 10.1038/s41698-021-00149-4 · DOI
  127. Dudnik, 2018, BRAF Mutant Lung Cancer: Programmed Death Ligand 1 Expression, Tumor Mutational Burden, Microsatellite Instability Status, and Response to Immune Check-Point Inhibitors, J. Thorac. Oncol., 13, 1128, 10.1016/j.jtho.2018.04.024 · DOI
  128. Roviello, 2020, Encorafenib, Binimetinib, and Cetuximab in BRAF V600E-Mutated Colorectal Cancer, Transl. Oncol., 13, 10.1016/j.tranon.2020.100795 · DOI
  129. Niu, 2021, Durable Response to the Combination of Atezolizumab With Platinum-Based Chemotherapy in an Untreated Non-Smoking Lung Adenocarcinoma Patient With BRAF V600E Mutation: A Case Report, Front. Oncol., 11, 10.3389/fonc.2021.634920 · DOI
  130. Gourd, 2022, ESMO World Congress on Gastrointestinal Cancer 2022, Lancet Oncol., 23, 988, 10.1016/S1470-2045(22)00443-0 · DOI
  131. Xu, 2019, Abstract 1597: Real-world large-scale study kinase domain duplications across diverse tumor types in Chinese populations, Cancer Res., 79, 1597, 10.1158/1538-7445.AM2019-1597 · DOI
  132. van Breeschoten, 2021, First-line BRAF/MEK inhibitors versus anti-PD-1 monotherapy in BRAF(V600)-mutant advanced melanoma patients: a propensity-matched survival analysis, Br. J. Cancer, 124, 1222, 10.1038/s41416-020-01229-1 · DOI
  133. Bai, 2017, BRAF inhibitors: efficacious and tolerable in BRAF-mutant acral and mucosal melanoma, Neoplasma, 64, 626, 10.4149/neo_2017_419 · DOI
  134. Facchinetti, 2020, Molecular mechanisms of resistance to BRAF and MEK inhibitors in BRAF(V600E) non-small cell lung cancer, Eur. J. Cancer, 132, 211, 10.1016/j.ejca.2020.03.025 · DOI
  135. Foth, 2021, Autophagy Inhibition in BRAF-Driven Cancers, Cancers, 13, 3498, 10.3390/cancers13143498 · DOI
  136. Grothey, 2021, Management of BRAF-mutant metastatic colorectal cancer: a review of treatment options and evidence-based guidelines, Ann. Oncol., 32, 959, 10.1016/j.annonc.2021.03.206 · DOI
  137. Haling, 2014, Structure of the BRAF-MEK complex reveals a kinase activity independent role for BRAF in MAPK signaling, Cancer Cell, 26, 402, 10.1016/j.ccr.2014.07.007 · DOI
  138. Proietti, 2020, BRAF Inhibitors: Molecular Targeting and Immunomodulatory Actions, Cancers, 12, 1823, 10.3390/cancers12071823 · DOI
  139. Zhu, 2021, Deubiquitinating enzyme OTUB1 promotes cancer cell immunosuppression via preventing ER-associated degradation of immune checkpoint protein PD-L1, Cell Death Differ., 28, 1773, 10.1038/s41418-020-00700-z · DOI
  140. Hersh, 2015, A randomized, controlled phase III trial of nab-Paclitaxel versus dacarbazine in chemotherapy-naïve patients with metastatic melanoma, Ann. Oncol., 26, 2267, 10.1093/annonc/mdv324 · DOI
  141. Cui, 2024, IBI310 (anti-CTLA-4 antibody) monotherapy or in combination with sintilimab in advanced melanoma or urothelial carcinoma, Innovation, 5
  142. Ascierto, 2024, Sequential immunotherapy and targeted therapy for metastatic BRAF V600 mutated melanoma: 4-year survival and biomarkers evaluation from the phase II SECOMBIT trial, Nat. Commun., 15, 146, 10.1038/s41467-023-44475-6 · DOI

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Metadata

Authors
Wang, W., Lian, B., Xu, C., Wang, Q., Li, Z., Zheng, N., Liu, A., Yu, J., Zhong, W., Wang, Z., Zhang, Y., Liu, J., Zhang, S., Cai, X., Liu, A., Li, W., Mao, L., Zhan, P., Liu, H., Lv, T., Miao, L., Min, L., Chen, Y., Yuan, J., Wang, F., Jiang, Z., Lin, G., Huang, L., Pu, X., Lin, R., Liu, W., Rao, C., Lv, D., Yu, Z., Li, X., Tang, C., Zhou, C., Zhang, J., Xue, J., Guo, H., Chu, Q., Meng, R., Liu, X., Wu, J., Zhang, R., Zhou, J., Zhu, Z., Li, Y., Qiu, H., Xia, F., Lu, Y., Chen, X., Feng, J., Ge, R., Dai, E., Han, Y., Pan, W., Pang, F., Huang, X., Hu, M., Hao, Q., Wang, K., Wu, F., Song, B., Xu, B., Wang, L., Zhu, Y., Lin, L., Xie, Y., Lin, X., Cai, J., Xu, L., Li, J., Jiao, X., Li, K., Wei, J., Feng, H., Wang, L., Du, Y., Yao, W., Shi, X., Niu, X., Yuan, D., Yao, Y., Huang, J., Feng, Y., Zhang, Y., Sun, P., Wang, H., Ye, M., Wang, D., Wang, Z., Hao, Y., Wang, Z., Wan, B., Lv, D., Yang, S., Kang, J., Zhang, J., Zhang, C., Li, W., Fu, J., Wu, L., Lan, S., Ou, J., Shi, L., Zhai, Z., Wang, Y., Li, B., Zhang, Z., Wang, K., Ma, X., Li, Z., Liu, Z., Yang, N., Wu, L., Wang, H., Jin, G., Wang, G., Wang, J., Shi, H., Fang, M., Fang, Y., Li, Y., Wang, X., Chen, J., Zhang, Y., Zhu, X., Shen, Y., Ma, S., Wang, B., Song, Y., Song, Z., Fang, W., Lu, Y., & Si, L.
Affiliations
  • Chinese Academy of Sciences (CN)
  • Peking University Cancer Hospital (CN)
  • Nanjing University of Chinese Medicine (CN)
  • Shanghai Jiao Tong University (CN)
  • Capital Medical University (CN)
  • Chinese PLA General Hospital (CN)
  • Tianjin Medical University Cancer Institute and Hospital (CN)
  • Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
  • Central South University (CN)
  • Jilin Province Tumor Hospital (CN)
  • Westlake University (CN)
  • Sun Yat-sen University Cancer Center (CN)
  • Wenzhou Medical University (CN)
  • Nanjing General Hospital of Nanjing Military Command (CN)
  • Nanjing Drum Tower Hospital (CN)
  • Yangzhou University (CN)
  • Fujian Medical University (CN)
  • Renmin Hospital of Wuhan University (CN)
  • Second Affiliated Hospital of Nanchang University (CN)
  • Peking University (CN)
  • Ningbo No. 2 Hospital (CN)
  • Peking University International Hospital (CN)
  • First Affiliated Hospital of Guangzhou Medical University (CN)
  • Guangdong Academy of Medical Sciences (CN)
  • Tongji University (CN)
  • First Affiliated Hospital of Xi'an Jiaotong University (CN)
  • Tongji Hospital (CN)
  • Huazhong University of Science and Technology (CN)
  • Xiamen University (CN)
  • China Medical University (CN)
  • University of Electronic Science and Technology of China (CN)
  • Fudan University Shanghai Cancer Center (CN)
  • National Clinical Research Center for Digestive Diseases (CN)
  • Jiangsu Province Hospital (CN)
  • Affiliated Hospital of Nantong University (CN)
  • Fudan University (CN)
  • Jilin University (CN)
  • Harbin Medical University (CN)
  • Jiaxing University (CN)
  • Nanjing Medical University (CN)
  • First Hospital of China Medical University (CN)
  • Shanxi Academy of Medical Sciences (CN)
  • Lishui Central Hospital (CN)
  • Shandong University (CN)
  • First Affiliated Hospital of Anhui Medical University (CN)
  • Huzhou Central Hospital (CN)
  • Nanjing Jiangning Hospital (CN)
  • The People's Hospital of Chuxiong Yi Autonomous Prefecture (CN)
  • Zhejiang University (CN)
  • First Hospital of Jilin University (CN)
  • Army Medical University (CN)
  • First Affiliated Hospital Zhejiang University (CN)
  • Guilin Medical University (CN)
  • Jinan University (CN)
  • Sichuan University (CN)
  • Sir Run Run Shaw Hospital (CN)
  • Hangzhou Cancer Hospital (CN)
  • Shanghai Medical College of Fudan University (CN)
Corresponding author
  • Song, Zhengbo
  • Fang, Wenfeng
  • Lu, Yuanzhi
  • Si, Lu
ORCID
Venue
The Innovation
Publisher
Elsevier BV
Published
2024-11
Volume
5
Issue
6
Pages
100661
ISSN
2666-6758 (ISSN-L)
DOI
10.1016/j.xinn.2024.100661
PMC
PMC11551471
OpenAlex
W4403527731
Cited by
14
References
9
Citations by year
2026: 3 · 2025: 11
FWCI
0.57
Type
journal article
Language
en
Open access
Licence
Locations
  • The Innovation (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • National Natural Science Foundation of China (82002456)
  • China Postdoctoral Science Foundation (2023KY666, 2022M723207)
  • Peking University
  • Medical Scientific Research Foundation of Zhejiang Province, China (2024KY812, 2023KY666)
  • Fundamental Research Funds for the Central Universities (BMU2024PYJH010)
  • Natural Science Foundation of Zhejiang Province (LQ24H160036)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Lung Cancer Treatments and Mutations
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords
BRAF mutation, solid tumors, BRAF V600E mutation, BRAF inhibitors, dabrafenib, trametinib, BRAF/MEK inhibitor combination, tumor-agnostic therapy, genetic testing, melanoma, thyroid cancer, colorectal cancer, non-small cell lung cancer, hairy cell leukemia, pediatric patients, targeted therapy

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