{
    "abstract": "The detection of BRAF fusions by using next-generation sequencing (NGS) is essential for comprehensive analysis.\nData BRAF positive rearrangements from Chinese cancer patients were analyzed. DNA NGS was performed on FFPE samples, and RNA NGS was used to confirm fusion transcripts.\nBRAF fusions were identified in various cancers, predominantly glioma (87.8%). DNA NGS detected 371 BRAF fusion-positive samples, with 338 retaining the serine/threonine receptor tyrosine kinase domain (RTKD), divided into four groups: common (n\u2009=\u2009254), rare (n\u2009=\u200966), intergenic (n\u2009=\u20097), and exonic (n\u2009=\u200911) fusions. Common fusions, mainly KIAA1549-BRAF, comprised the majority, with variations at introns 8, 9, and 10. Rare fusions and intergenic/exonic breakpoints displayed diverse structural patterns. RNA NGS verified transcriptional consistency in most samples from common fusions. However, various outcomes at the RNA level were found in other groups, involving mechanisms like alternative splicing, antisense rearrangement, and frameshift rearrangement. Additionally, 33 fusions lacked the RTKD, demonstrating significant structural diversity. Furthermore, 22 novel fusions were identified, which were distributed in tongue cancer, liver cancer, lung cancer, melanoma, brain cancer, and colon cancer.\nComprehensive molecular profiling and RNA sequencing are essential for accurate fusion detection, improving the design of NGS panels and aiding in the targeted therapy of BRAF fusion-positive cancers.",
    "authors": [
        {
            "affiliation": "Center for Plastic & Reconstructive Surgery, Department of Lymphatic surgery and reconstructive microsurgery, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.\nCollege of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.",
            "firstname": "Qiong",
            "initials": "Q",
            "lastname": "Yang"
        },
        {
            "affiliation": "Genecn-Biotech Co.Ltd, Hangzhou, Zhejiang, China.",
            "firstname": "Baoming",
            "initials": "B",
            "lastname": "Wang"
        },
        {
            "affiliation": "General Surgery, Cancer Center, Department of Breast Surgery, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China.",
            "firstname": "Xuli",
            "initials": "X",
            "lastname": "Meng"
        },
        {
            "affiliation": "Genecn-Biotech Co.Ltd, Hangzhou, Zhejiang, China.",
            "firstname": "Tonghui",
            "initials": "T",
            "lastname": "Ma"
        },
        {
            "affiliation": "General Surgery, Cancer Center, Department of Gastrointestinal and Pancreatic Surgery, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China.",
            "firstname": "Zhenyuan",
            "initials": "Z",
            "lastname": "Qian"
        },
        {
            "affiliation": "Cancer Center, Department of Cardio-Thoracic Surgery, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.",
            "firstname": "Xufan",
            "initials": "X",
            "lastname": "Cai"
        },
        {
            "affiliation": "School of Pharmacy, Hangzhou Normal University, Hangzhou, Zhejiang, China.",
            "firstname": "Xiaochen",
            "initials": "X",
            "lastname": "Sun"
        },
        {
            "affiliation": "Department of Neurosurgery, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China.",
            "firstname": "Yan",
            "initials": "Y",
            "lastname": "Xu"
        },
        {
            "affiliation": "Department of General Surgery, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.",
            "firstname": "Qifeng",
            "initials": "Q",
            "lastname": "Luo"
        },
        {
            "affiliation": "Department of General Surgery, People's Hospital of Tiantai County, Hangzhou, China.",
            "firstname": "Tianyao",
            "initials": "T",
            "lastname": "Yang"
        },
        {
            "affiliation": "General Surgery, Cancer Center, Department of Gastrointestinal and Pancreatic Surgery, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China.",
            "firstname": "Houquan",
            "initials": "H",
            "lastname": "Tao"
        },
        {
            "affiliation": "General Surgery, Cancer Center, Department of Breast Surgery, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China.",
            "firstname": "Yangyang",
            "initials": "Y",
            "lastname": "Qian"
        },
        {
            "affiliation": "College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China. shaojz@zju.edu.cn.",
            "firstname": "Jianzhong",
            "initials": "J",
            "lastname": "Shao"
        },
        {
            "affiliation": "General Surgery, Cancer Center, Department of Gastrointestinal and Pancreatic Surgery, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, China. zaiyuanye@126.com.",
            "firstname": "Zaiyuan",
            "initials": "Z",
            "lastname": "Ye"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2025. The Author(s), under exclusive licence to Springer Nature Limited.",
    "doi": "10.1038/s41416-025-02998-3\n10.3390/cancers11101618\n10.1158/1078-0432.CCR-21-2138\n10.1200/JCO.2015.63.2471\n10.1016/S1470-2045(15)00087-X\n10.1111/j.1750-3639.2010.00454.x\n10.1038/s41698-023-00359-y\n10.1158/1078-0432.CCR-11-0034\n10.1002/ijc.29825\n10.1016/j.jtho.2018.05.027\n10.1158/1078-0432.CCR-20-3208\n10.1016/j.jmoldx.2018.05.007\n10.1093/neuonc/nov289\n10.1002/1878-0261.13509\n10.1016/j.jtho.2020.12.006\n10.1093/bioinformatics/btu170\n10.3389/fendo.2023.1138100\n10.1186/s12916-022-02362-9\n10.1002/1878-0261.13348\n10.1016/j.cell.2015.05.044\n10.1016/j.jtho.2020.10.156\n10.1177/1758835919856494\n10.1038/s41379-019-0324-7\n10.1016/j.jtho.2020.02.023\n10.1097/JTO.0000000000000311\n10.1016/j.canlet.2013.01.011\n10.1093/nar/29.12.2581\n10.1002/cam4.70191\n10.1038/modpathol.2017.181",
    "journal": "British journal of cancer",
    "keywords": [],
    "methods": null,
    "publication_date": "2025-04-20",
    "pubmed_id": "40253487\n31652660\n35486097\n26392102\n26433819\n36854806\n21610142\n26314551\n29883838\n33272981\n30139549\n26681766\n37584407\n33641715\n24695404\n35534835\n36423218\n33248323\n31244912\n31375766\n32151779\n25144242\n23376639\n11410667\n39254060\n29327716",
    "results": "BRAF fusions were identified in various cancers, predominantly glioma (87.8%). DNA NGS detected 371 BRAF fusion-positive samples, with 338 retaining the serine/threonine receptor tyrosine kinase domain (RTKD), divided into four groups: common (n\u2009=\u2009254), rare (n\u2009=\u200966), intergenic (n\u2009=\u20097), and exonic (n\u2009=\u200911) fusions. Common fusions, mainly KIAA1549-BRAF, comprised the majority, with variations at introns 8, 9, and 10. Rare fusions and intergenic/exonic breakpoints displayed diverse structural patterns. RNA NGS verified transcriptional consistency in most samples from common fusions. However, various outcomes at the RNA level were found in other groups, involving mechanisms like alternative splicing, antisense rearrangement, and frameshift rearrangement. Additionally, 33 fusions lacked the RTKD, demonstrating significant structural diversity. Furthermore, 22 novel fusions were identified, which were distributed in tongue cancer, liver cancer, lung cancer, melanoma, brain cancer, and colon cancer.",
    "title": "Unveiling the BRAF fusion structure variations through DNA and RNA sequencing.",
    "xml": "<Element 'PubmedArticle' at 0x788502ddad40>"
}