越南前列腺癌患者的 BRCA 基因突变:一项混合横断面研究和病例系列研究

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-02-26 DOI:10.1515/oncologie-2023-0556
Phuong Cam Pham, Thai Van Pham, Long Doan Dinh, Loi Thuan Nguyen, Nam Viet Le, Mai Bich Bui, Hung Quang Nguyen, Tuyen Van Pham, Quynh Thuy Thi Vo, Thu Binh Vu, Hien Thu Thi Vu, Ngoc Bich Thi Le, Binh Quoc Hoang, Anh Lan Thi Luong, Hoai Thi Nguyen, Ly Phuong Thi Nguyen, Lanh Minh Pham, Thuy Phuong Ngo, Hien Minh Nguyen, Dang Ngoc Tran, Vien Truong Nguyen, Khoa Trong Mai
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摘要

前列腺癌的特征与 BRCA1 和 BRCA2 基因突变有关。评估患者中 BRCA1 和 BRCA2 基因携带者的状况有助于准确诊断、疾病预后以及适当的靶向治疗方法。本研究评估了这些基因突变在越南前列腺癌患者中的发生率,并评估了它们与临床特征的相关性。 这项横断面研究于 2021 年至 2022 年期间在越南 Bach Mai 医院进行。我们招募了 60 名前列腺癌患者。研究人员使用新一代基因测序技术鉴定了福尔马林固定石蜡包埋样本中的 BRCA1 和 BRCA2 基因突变。体细胞基因突变的患者进一步进行了种系突变分析。我们还根据《英国医学杂志》指南报告了一个病例系列,详细介绍了此类患者的临床病程。 BRCA2致病变异患者没有发现BRCA1变异,但发现了不同的变异。两名患者出现了种系突变。BRCA 基因突变患者在确诊时的年龄(平均年龄:66.2 岁)比未发现突变的患者(72.1 岁)要小。基因突变组中,高格里森评分、淋巴结转移和远处转移的发生率更高。一名生殖系 BRCA 基因突变患者患有侵袭性前列腺癌,并对非 PARPi(聚 ADP 核糖聚合酶抑制剂)治疗产生了早期耐药性。 我们提供了越南前列腺癌患者 BRCA 基因突变的初步数据,表明 BRCA2 基因突变与侵袭性疾病特征相关。我们的研究结果进一步阐明了这些突变的临床意义。
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BRCA mutation in Vietnamese prostate cancer patients: a mixed cross-sectional study and case series
Prostate cancer features have been linked to mutations in the BRCA1 and BRCA2 genes. Assessing the status of BRCA1 and BRCA2 gene carriers in patients contributes to accurate diagnosis, disease prognosis as well as appropriate targeted treatment methods. This study evaluated the prevalence of these mutations in Vietnamese prostate cancer patients and assessed their correlation with clinical features. A cross-sectional study was performed at Bach Mai Hospital between 2021 and 2022. We enrolled 60 prostate cancer patients. Next-generation gene sequencing was used to identify BRCA1 and BRCA2 mutations in formalin-fixed paraffin-embedded samples. Patients with somatic gene mutations underwent further germline mutation analysis. We also reported a case series following the British Medical Journal guidelines, detailing the clinical course of such patients. Patients with BRCA2 pathogenic variants revealed no BRCA1 mutations, although different mutations were identified. Two patients showed germline mutations. Patients with BRCA mutations were younger (average age: 66.2 years) than those with non-mutations (72.1 years) at diagnosis. High Gleason scores, lymph node metastases, and distant metastases were more prevalent in the mutation group. One patient with germline BRCA mutation had aggressive prostate cancer and early resistance to non-PARPi (Poly ADP-ribose polymerase inhibitors) treatments. We provide preliminary data on BRCA mutations in Vietnamese patients with prostate cancer, suggesting that BRCA2 mutations correlate with aggressive disease characteristics. Our findings further elucidate the clinical implications of these mutations.
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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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