Second-generation sequencing

第二代测序
  • 文章类型: Journal Article
    UNASSIGNED:本研究旨在探索真实世界中RAS野生型转移性结直肠癌(mCRC)遗传变异的生物学意义,研究西妥昔单抗治疗不同遗传变异mCRC的疗效差异,并确定临床特征和新的疗效预测因子。
    UNASSIGNED:对2016年至2020年在苏州大学附属第一和第二医院接受西妥昔单抗治疗的60例IV期mCRC患者的资料进行回顾性分析。根据基因检测结果将患者分为以下3组:(I)A组(全RAS野生型组);(II)B组(具有抑癌基因突变的全RAS野生型组);(III)C组(具有致癌驱动基因突变的全RAS野生型组)。进行亚组分析以检查左CRC和局部干预,观察患者的无进展生存期(PFS)和总生存期(OS)。
    未经评估:将所有RAS野生型mCRC患者分为A组(n=10),B组(包括TP53、APC、PTEN,BRCA2和SMAD4变体)(n=42),和C组(包括ERBB2,BRAF,PIK3CA,和RET变体)(n=8)。A组的中位PFS,B,C分别为15.0、12.0和3.0个月,分别为(P=0.007)。将性别作为分层变量与Cox生存分析模型拟合显示,仅B组和C组的PFS存在显着差异(P=0.011)。在左侧mCRC患者中,A组的中位PFS,B,C分别为3.0、13.0和3.0个月,分别为(P=0.009)。B组患者中,转移性局部干预亚组的中位PFS为14.0个月,非局部干预亚组为12.0个月(P=0.55)。只有联合基因突变类型是影响PFS的独立因素。
    UNASSIGNED:使用西妥昔单抗治疗的具有全RAS野生型且无联合突变的mCRC患者的PFS和OS并不优于具有联合突变的患者。与所有RAS野生型和致癌驱动基因突变的mCRC患者相比,西妥昔单抗可显着延长具有肿瘤抑制基因突变的所有RAS野生型患者的PFS。
    UNASSIGNED: This study sought to explore the biological significance of genetic variation in RAS wild-type metastatic colorectal cancer (mCRC) in the real world, the difference in the efficacy of cetuximab in the treatment of mCRC with different genetic variants and identify clinical features and new predictors of efficacy.
    UNASSIGNED: A retrospective analysis of the data of 60 patients with stage IV mCRC who received cetuximab at The First and Second Affiliated Hospital of Soochow University from 2016 to 2020 was conducted. The patients were divided into the following 3 groups according to the genetic test results: (I) group A (the all-RAS wild-type group); (II) group B (the all-RAS wild-type group with the tumor suppressor gene mutation); and (III) group C (the all-RAS wild-type group with the oncogenic driver gene mutation). A subgroup analysis was conducted to examine left CRC and local intervention, and the progression-free survival (PFS) and overall survival (OS) of the patients were observed.
    UNASSIGNED: The all-RAS wild-type mCRC patients were divided into group A (n=10), group B (including the TP53, APC, PTEN, BRCA2, and SMAD4 variants) (n=42), and group C (including the ERBB2, BRAF, PIK3CA, and RET variants) (n=8). The median PFS of groups A, B, and C were 15.0, 12.0, and 3.0 months, respectively (P=0.007). Fitting sex as a stratified variable to the Cox survival analysis model showed that only the PFS of groups B and C differed significantly (P=0.011). In the left-sided mCRC patients, the median PFS of groups A, B, C were 3.0, 13.0, and 3.0 months, respectively (P=0.009). Among the patients in group B, the median PFS of the metastatic local intervention subgroup was 14.0 months, and the non-local intervention subgroup was 12.0 months (P=0.55). Only the type of combined gene mutation was an independent factor affecting PFS.
    UNASSIGNED: The PFS and OS of mCRC patients with all-RAS wild-type and no combined mutations treated with cetuximab were not better than those of patients with combined mutations. Compared to mCRC patients with all-RAS wild-type and oncogenic driver gene mutations, cetuximab significantly prolonged the PFS of all-RAS wild-type patients with the tumor suppressor gene mutations.
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  • 文章类型: Journal Article
    基于DNA的物种鉴定,被称为条形码,改变了生物多样性科学研究的传统方法。该领域正在从条形码个人过渡到元条形码社区。这场革命涉及新的测序技术,生物信息学管道,计算基础设施,和实验设计。在这个动态的基因组学景观中,元编码研究仍然是孤立的,生物多样性的估计取决于所使用的特定方法。在这篇观点文章中,我讨论了整合分类学和条形码信息的基于DNA的物种鉴定的协调发展的必要性。这种方法将有助于获得近3个世纪的分类学知识和1个十年的建立存储库条形码。保护项目是时间敏感的,研究经费变得受到限制,和明智的决定取决于我们接受生物多样性科学综合方法的能力。
    DNA-based species identification, known as barcoding, transformed the traditional approach to the study of biodiversity science. The field is transitioning from barcoding individuals to metabarcoding communities. This revolution involves new sequencing technologies, bioinformatics pipelines, computational infrastructure, and experimental designs. In this dynamic genomics landscape, metabarcoding studies remain insular and biodiversity estimates depend on the particular methods used. In this opinion article, I discuss the need for a coordinated advancement of DNA-based species identification that integrates taxonomic and barcoding information. Such an approach would facilitate access to almost 3 centuries of taxonomic knowledge and 1 decade of building repository barcodes. Conservation projects are time sensitive, research funding is becoming restricted, and informed decisions depend on our ability to embrace integrative approaches to biodiversity science.
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