The rapid evolution of sequencing technologies has profoundly advanced precision oncology. Whole-exome sequencing (WES), whole-genome sequencing (WGS), and whole-transcriptome sequencing (RNA-Seq) enable comprehensive characterization of tumor biology by detecting actionable mutations, gene fusions, splice variants, copy number alterations, and pathway dysregulation. These approaches also provide critical insights into biomarkers such as homologous recombination deficiency (HRD), tumor mutational burden (TMB), and microsatellite instability (MSI), which are increasingly essential for guiding therapeutic decisions. Importantly, comprehensive genomic profiling not only refines patient stratification for targeted therapies but also sheds light on tumor–immune interactions and the tumor microenvironment, paving the way for more effective immunotherapeutic combinations. WGS is considered the gold standard for detecting germline mutations and complex structural variants, while WES remains central for detecting somatic driver mutations that guide targeted therapies. RNA-Seq complements these methods by capturing gene expression dynamics, identifying clinically relevant fusions, and revealing mechanisms of resistance. Together with advances in bioinformatics and artificial intelligence, these tools translate molecular data into actionable strategies for patient care. This review integrates insights from WGS, WES, and RNA-Seq with an overview of FDA- and EMA-approved targeted therapies, organized by tumor type, and highlights the molecular signaling pathways that drive cancer development and treatment. By bridging genomic profiling with regulatory-approved therapies, we outline current advances and future perspectives in delivering personalized cancer care.
测序技术的快速发展极大地推动了精准肿瘤学的进步。全外显子组测序（WES）、全基因组测序（WGS）和全转录组测序（RNA-Seq）能够通过检测可操作突变、基因融合、剪接变异、拷贝数改变和通路失调，实现对肿瘤生物学的全面表征。这些方法还为同源重组缺陷（HRD）、肿瘤突变负荷（TMB）和微卫星不稳定性（MSI）等生物标志物提供了关键见解，这些标志物对于指导治疗决策日益重要。重要的是，全面的基因组分析不仅优化了靶向治疗的患者分层，还揭示了肿瘤-免疫相互作用和肿瘤微环境，为更有效的免疫治疗组合铺平了道路。WGS被认为是检测胚系突变和复杂结构变异的金标准，而WES在检测指导靶向治疗的体细胞驱动突变方面仍处于核心地位。RNA-Seq通过捕捉基因表达动态、识别临床相关融合以及揭示耐药机制，对这些方法进行了补充。这些工具与生物信息学和人工智能的进步相结合，将分子数据转化为可操作的临床诊疗策略。本综述整合了WGS、WES和RNA-Seq的见解，并按肿瘤类型概述了FDA和EMA批准的靶向疗法，重点阐述了驱动癌症发生和治疗的分子信号通路。通过将基因组分析与监管机构批准的疗法相结合，我们概述了当前在提供个性化癌症治疗方面的进展和未来展望。
Advances in Precision Oncology: From Molecular Profiling to Regulatory-Approved Targeted Therapies
肿瘤(癌症)患者之家