BRCA, breast cancer susceptibility gene

  • 文章类型: Journal Article
    基因组不稳定性仍然是癌症的有利特征,并促进恶性转化。DNA损伤反应(DDR)途径的改变允许基因组不稳定,产生新抗原,上调程序性死亡配体1(PD-L1)的表达,并与信号传导如干扰素基因的环GMP-AMP合酶-刺激物(cGAS-STING)信号传导相互作用。这里,我们回顾了DDR途径的基本知识,DDR改变引起的基因组不稳定性的机制,DDR改变对免疫系统的影响,以及DDR改变作为生物标志物和治疗靶点在癌症免疫治疗中的潜在应用。
    Genomic instability remains an enabling feature of cancer and promotes malignant transformation. Alterations of DNA damage response (DDR) pathways allow genomic instability, generate neoantigens, upregulate the expression of programmed death ligand 1 (PD-L1) and interact with signaling such as cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) signaling. Here, we review the basic knowledge of DDR pathways, mechanisms of genomic instability induced by DDR alterations, impacts of DDR alterations on immune system, and the potential applications of DDR alterations as biomarkers and therapeutic targets in cancer immunotherapy.
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  • 文章类型: Journal Article
    低收入国家的卵巢癌(OC)负担每年继续增加。这种妇科癌症,以其糟糕的生存结果而闻名,与乳腺癌等其他女性恶性肿瘤相比,在医学研究方面没有引起太多兴趣。进行此文献计量研究是为了更好地描绘全球地图和摩洛哥OC研究领域科学生产力的未来方向。
    使用基于Pubmed数据库和其他资源的一些文献计量参数对OC的出版趋势进行了回顾性分析。
    在这段时间内(1900-2018年),共发现74份符合纳入标准的出版物,并纳入文献计量分析.这主要是关于罕见卵巢肿瘤的病例报告和病例系列(n=60)。在核心集群中,摩洛哥研究人员仅发表了10项关于OC的原始研究和3篇综述.在对研究人群进行全文评估后,只有两篇临床原创文章包括OC患者。其他临床研究仅包括乳腺癌患者或暗示遗传性OC。此外,在文献检索中发现了3项临床前体外研究。这些出版物中的大多数都由Pubmed和WebofScience核心收藏涵盖,并且都以英语出版。该地区前10名摩洛哥科学家的H指数没有超过10。重要的是,研究和评论文章经常发表在有影响力的期刊上。然而,与其他非洲国家相比,出版物数量很少。此外,每个新诊断的OC病例的文章趋势相似,也注意到人均GDP和每百万GDP。关于性别分布,女性科学家是大多数论文的第一作者,但作为最后的主要作者的代表较少。在罕见卵巢肿瘤的其他文章类型的补充集群中,70%的项目以法语出版,大约60%的项目在Pubmed上索引。在过去的五年里,人们注意到,该研究类别的发布速度明显加快,对循证实践的影响很小。
    妇科肿瘤学的这一研究领域似乎被忽视,需要在摩洛哥未来的研究项目中优先考虑,特别是考虑到该女性癌症的攻击行为和少数可用的治疗选择。在所有领域,特别是流行病学领域,对OC的研究存在未满足的需求,临床病理特征,和生存结果。
    UNASSIGNED: The burden of ovarian cancer (OC) in low-income countries continues to increase annually. This gynecological cancer, known for its poor survival outcomes, has not attracted much interest in medical research as compared to other women\'s malignancies such as breast cancer. This bibliometric study was conducted to better depict the global map and the future directions of scientific productivity in the area of OC research in Morocco.
    UNASSIGNED: Publication trends on OC were retrospectively analyzed using a number of bibliometric parameters based on the Pubmed database and other resources.
    UNASSIGNED: During the time period (1900-2018), a total number of 74 publications responding to the inclusion criteria were found and incorporated in the bibliometric analysis. This was dominated by case reports and case series on rare ovarian tumors (n = 60). In the core cluster, only 10 original studies and 3 reviews on OC were published by Moroccan researchers. After full-text appraisal for study population, only two clinical original articles included OC patients. The other clinical studies included breast cancer patients only or were suggestive of inherited OC. In addition, 3 preclinical in vitro studies were found during the literature search. The majority of these publications were covered by Pubmed and Web of Science core collection and all published in English language. The H-index of top 10 Moroccan scientists in this area didn\'t exceed 10. Importantly, research and review articles were frequently published in influential journals. However, the number of publications as compared to other African countries was very low. Moreover, a similar trend in terms of article per each newly diagnosed OC case, GDP per capita and per million was also noticed. For gender distribution, female scientists were first authors in the majority of these papers but less represented as leading last authors. In the complementary cluster of other article types on rare ovarian tumors, 70% of the items were published in French and approximately 60% were indexed on Pubmed. During the last five years, a marked acceleration of publishing this research category with little impact in the evidence-based practice was noticed.
    UNASSIGNED: This research area in gynecologic oncology seems to be neglected and needs to be prioritized in future research projects in Morocco particularly given the aggressive behavior of this women\'s cancer and the few available therapeutic options. There is an unmet need for studies on OC in all fields particularly epidemiology, clinic-pathological characteristics, and survival outcomes.
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