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全景变异分析

利用全景变异分析聚焦癌症

通过单次NGS检测同时评估多种癌症的多个生物标志物

Detect Multiple Biomarkers in a Single Assay

CGP can detect biomarkers at nucleotide-level resolution and typically comprises all major genomic variant classes (SNVs, indels, CNVs, fusions, splice variants), as well as large genomic signatures (TMB, MSI), maximizing the ability to find clinically actionable alterations.

整合检测,节省时间和珍贵样本

CGP可将多个生物标志物的检测整合到单个多重检测中,无需进行连续检测。这种单次检测不仅可以评估普通的生物标志物,还可以评估罕见的生物标志物。通过同时评估所有生物标志物可增加发现阳性生物标志物的机会。这也许能更快速地提供检测结果、节约活检样本、减少再次进行活检的需要1-3

识别可操作的变异

CGP可以提供可操作的结果,帮助癌症患者找到更有效的治疗途径。无法进行组织活检时,液体活检的CGP可以提供有关肿瘤基因组组成的有用信息。同时进行组织活检和液体活检的CGP可以揭示更多关于肿瘤组成的信息。4,5

Percentage of Potentially Actionable Alterations

Multiple studies have demonstrated the ability of CGP to identify potentially clinically relevant genomic alterations, across different tumor types.

Potentially Actionable Variants Identified in Patient Samples Patient Cohort Author
Single center, prospective study with 339 patients. Refractory cancers, multiple types: ovarian (18%), breast (16%), sarcoma (13%), renal (7%) and others Wheeler et al 20166
Prospective study with 100 patients, diverse-histology, rare, or poor-prognosis cancers Hirschfield et al 20167
Prospective study with 10,000 patients with advanced cancer aross a vast array of solid tumor types Zehir et al 20178
Retrospective study with 96 patients across multiple tumor types Reitsma et al 20199
6,832 NSCLC patients Suh et al 201610

The % of actionable alterations identified in each study varies according to patient cohort, study type, CGP panel used, and criteria for categorizing a genomic alteration as actionable.

Data on file.

Improving Patient Outcomes with CGP


 
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Marjolijn Ligtenberg

What do the experts say about Comprehensive Genomic Profiling?

Listen to Marjolijn Ligtenberg, Pathologist, Laboratory of Tumor Genetics, Radboud University Medical Center and others discuss the value CGP offers to patients and healthcare providers.

CGP与其他NGS方法的比较

CGP vs单基因检测

单基因检测只能检测一种生物标志物。这类检测通常不会覆盖整个基因序列,有可能会遗漏掉重要的基因变异。

CGP vs靶向panel

靶向panel通常只覆盖热门基因,而不是整个编码区序列。因此,使用这种方法可能会遗漏掉重要的变异。

与靶向panel相比,全面的单次检测可以评估大量生物标志物,增加了获得相关信息的机会。

CGP vs外显子组测序

CGP能以更低的成本获得与全外显子组测序相同的TMB结果。

由于在开发个性化医疗方法时,全外显子组测序的成本可能较高,因此人们倾向于采用较少的测序来获得准确的TMB评估。

There are a lot of very impressive novel therapies coming on the market with new fusions that we need to detect.

Ludovic Lacroix
Department of Medical Biology and Pathology
Institut de Cancerologie Gustave Roussy

At OmniSeq, we've adopted comprehensive genomic profiling as our test of choice, so we could look at multiple biomarkers on a minimum of specimens to get a single consolidated report.

Jeff Conroy
Chief Scientific Officer at OmniSeq

A solid CGP assay is in my opinion inclusive of both DNA and RNA analysis. There is mounting data that clinically relevant variants can be missed by DNA analysis alone.

Nikoletta Sidiropoulos
Director of Molecular Pathology at the University of Vermont

The change from single gene or single biomarker testing to a comprehensive panel based approach has been driven by...factors that include inherent efficiency of a single comprehensive panel, which is key among cancers and other samples that have limited tissue.

Jeremy Wallentine
Laboratory Director at Intermountain Precision Genomics

It is important for CGP to include DNA and RNA targets. RNA fusions are very important in some cancers, and you need to see the exact RNA fusion.

Professor Xiaoyan Zhou
Reference LabLeader of Molecular Pathological Lab Shanghai Cancer Center, Fudan University

各个指南中CGP检测纳入的相关生物标志物

Comprehensive genomic profiling provides tumor-agnostic testing for hundreds of relevant biomarkers in a single assay, potentially offering significant savings in sample, time, and cost.

Gene content is typically designed to be relevant across multiple tumor types, in contrast to single-marker or hotspot assays that are often designed for specific cancer types.

泛癌生物标志物      NTRK1        NTRK2        NTRK3        MSI        TMB
肺癌 黑色素瘤 结肠癌 卵巢癌 乳腺癌 胃癌 膀胱癌 肉瘤
AKT1 BRAF AKT1 BRAF AKT1 BRAF MSH5 ALK
ALK CTNNB1 BRAF BRCA1 AR KIT PMS2 APC
BRAF GNA11 HRAS BRCA2 BRCA1 KRAS TSC1 BRAF
DDR2 GNAQ KRAS KRAS BRCA2 MET   CDK4
EGFR KIT MET PDGFRA ERBB2 MLH1   CTNNB1
ERBB2 MAP2K1 MLH1 FOXL2 FGFR1 PDGFRA   ETV6
FGFR1 NF1 MSH2 TP53 FGFR2 TP53   EWSR1
FGFR3 NRAS MSH6   PIK3CA     FOXO1
KRAS PDGFRA NRAS   PTEN     GLI1
MAP2K1 PIK3CA PIK3CA         KJT
MET PTEN PMS2         MDM2
NRAS TP53 PTEN         MYOD1
PIK3CA   SMAD4         NAB2
PTEN   TP53         NF1
RET             PAX3
TP53             PAX7
              PDGFRA
              PDGFRB
              SDHB
              SDHC
              SMARCB1
              TFE3
              WT1

T这里只展示了部分基因,不是详尽的清单。

咨询专家,了解有关CGP的更多信息
利用分子分析实现癌症精准治疗

 

基因组和转录组图谱分析扩展了癌症精准医疗:WINTHER试验

 

114个肿瘤相关基因panel检测的可行性和实用性:一项以医院为基础的研究

 

特色文献
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