PDF(Pubmed)
Abstract：
UNASSIGNED: Breast cancer exhibits vast genomic diversity, leading to varied clinical manifestations. Integrating molecular subtyping with in-depth genomic profiling is pivotal for informed treatment choices and prognostic insights. Whole-genome clinical analysis provides a holistic view of genome-wide variations, capturing structural changes and affirming tumor suppressor gene loss of heterozygosity.
UNASSIGNED: Here we detail four unique breast cancer cases from Seoul St. Mary\'s Hospital, highlighting the actionable benefits and clinical value of whole-genome sequencing (WGS). As an all-in-one test, WGS demonstrates significant clinical utility in these cases, including: (1) detecting homologous recombination deficiency with underlying somatic causal variants (case 1), (2) distinguishing double primary cancer from metastasis (case 2), (3) uncovering microsatellite instability (case 3), and (4) identifying rare germline pathogenic variants in TP53 gene (case 4). Our observations underscore the enhanced clinical relevance of WGS-based testing beyond pinpointing a few driver mutations in conventional targeted panel sequencing platforms.
UNASSIGNED: With genomic advancements and decreasing sequencing costs, WGS stands out as a transformative tool in oncology, paving the way for personalized treatment plans rooted in individual genetic blueprints.
UNASSIGNED: Here we detail four unique breast cancer cases from Seoul St. Mary\'s Hospital, highlighting the actionable benefits and clinical value of whole-genome sequencing (WGS). As an all-in-one test, WGS demonstrates significant clinical utility in these cases, including: (1) detecting homologous recombination deficiency with underlying somatic causal variants (case 1), (2) distinguishing double primary cancer from metastasis (case 2), (3) uncovering microsatellite instability (case 3), and (4) identifying rare germline pathogenic variants in TP53 gene (case 4). Our observations underscore the enhanced clinical relevance of WGS-based testing beyond pinpointing a few driver mutations in conventional targeted panel sequencing platforms.
UNASSIGNED: With genomic advancements and decreasing sequencing costs, WGS stands out as a transformative tool in oncology, paving the way for personalized treatment plans rooted in individual genetic blueprints.
摘要：
■乳腺癌表现出巨大的基因组多样性，导致各种临床表现。整合分子亚型与深入的基因组分析是明智的治疗选择和预后见解的关键。全基因组临床分析提供了全基因组变异的整体观点，捕获结构变化并确认抑癌基因杂合性缺失。
■这里我们详细介绍了来自首尔圣玛丽医院的四例独特的乳腺癌病例，强调全基因组测序（WGS）的可操作益处和临床价值。作为一项一体化测试，WGS在这些病例中显示出显著的临床效用，包括:(1)检测具有潜在体细胞因果变异的同源重组缺陷(案例1)，（2）区分双原发癌与转移（病例2），（3）发现微卫星不稳定性（案例3），和（4）鉴定TP53基因中的罕见种系致病变异（病例4）。我们的观察结果强调了基于WGS的测试的增强的临床相关性，而不是在常规靶向组测序平台中精确定位一些驱动突变。
■随着基因组的进步和测序成本的降低，WGS作为肿瘤学的变革工具脱颖而出，为根植于个体遗传蓝图的个性化治疗计划铺平道路。
■这里我们详细介绍了来自首尔圣玛丽医院的四例独特的乳腺癌病例，强调全基因组测序（WGS）的可操作益处和临床价值。作为一项一体化测试，WGS在这些病例中显示出显著的临床效用，包括:(1)检测具有潜在体细胞因果变异的同源重组缺陷(案例1)，（2）区分双原发癌与转移（病例2），（3）发现微卫星不稳定性（案例3），和（4）鉴定TP53基因中的罕见种系致病变异（病例4）。我们的观察结果强调了基于WGS的测试的增强的临床相关性，而不是在常规靶向组测序平台中精确定位一些驱动突变。
■随着基因组的进步和测序成本的降低，WGS作为肿瘤学的变革工具脱颖而出，为根植于个体遗传蓝图的个性化治疗计划铺平道路。
