Pan-cancer research with molecular profiling

Characterizing common alterations across cancer types to understand tumor classification and potential targeted therapies

Pan-Cancer Profiling

Although all cancers are molecularly distinct, many share common driver mutations.1 Pan-cancer profiling can provide useful insights into frequently mutated genes, regardless of tumor origin. Using next-generation sequencing (NGS), pan-tumor projects such as The Cancer Genome Atlas2 have made significant contributions to our understanding of DNA and RNA variants across many cancer types.

Pan-cancer profiling using NGS enables researchers to comprehensively analyze a defined set of genes associated with many common cancers, including both solid tumors and hematologic malignancies.

Molecular Analysis Across Cancer Types

Targeted sequencing is the simplest and most cost-effective method for pan-cancer profiling. Expert-defined gene panels eliminate the need to isolate gene targets of NGS separately, and multiplexing enables many samples to be run at the same time regardless of tumor type. Multiplexing enables pan-cancer RNA studies to be run in parallel with DNA studies for a comprehensive tumor profile.

Pan-cancer profiling using NGS follows a simple workflow that can be easily scaled to hundreds of samples. Clinical research labs can go from DNA to report in approximately 40 hours. This workflow uses a single instrument, minimizing steps and integrating seamlessly into the lab setting. Pan-cancer profiling allows the inclusion of markers from various cancer types in a single assay, positively impacting workflows and turnaround times.

Illumina products empower clinical cancer researchers to use the most current technologies to find accurate answers while seamlessly integrating NGS into their labs. A comprehensive portfolio of cancer-specific library preparation kits enables labs to run DNA and RNA assays simultaneously for a broad view of tumor mechanisms.

Illumina sequencers deliver industry-leading accuracy, generating ~90% of the world’s sequencing data.* Efficient reporting capabilities enable researchers to annotate, classify, and communicate significant findings in a standard format that facilitates data analyses and trending.

Click on the below to view products for each workflow step.

TruSight Oncology UMI Reagents

The TruSight Oncology UMI Reagents and UMI Error Correction App reduce error rates in samples to ≤0.007%, enabling the detection of low frequency variants.

TruSight RNA Pan-Cancer

Targeting 1385 oncology genes for gene expression, variant and fusion detection in all RNA sample types including FFPE.

AmpliSeq for Illumina Cancer HotSpot Panel v2

Targeted research panel investigating hotspot regions of 50 genes with known associations to cancer.

TruSight RNA Fusion

A gene fusion detection panel targeting fusion associated genes in many cancer types with the ability to detect known and novel fusion gene partners.

MiniSeq System

Simplest and most affordable solution for low-throughput targeted sequencing for pan-cancer profiling.

MiSeq System

Desktop sequencer featuring a simple NGS workflow, integrated data analysis software, and unmatched accuracy.

MiSeqDx Instrument

FDA-cleared in vitro diagnostic NGS system that also operates in research mode to generate accurate, reliable data.

NextSeq Series

Flexible desktop sequencers that support multiple applications, from targeted profiling to whole-genome sequencing.

MiSeq Reporter

Easy-to-use software for analysis and variant calling on the MiSeq System.

VariantStudio Software

A powerful analysis and reporting tool that provides biological insight into genomic variant data.

BaseSpace Sequence Hub

The Illumina genomics computing environment for NGS data analysis and management.

Local Run Manager

Easy-to-use software for automated on-instrument data analysis.

Targeted Panel Sequencing for Researching Hematologic Disorders

Dr. Torsten Haferlach, Head of Munich Leukemia Laboratory, discusses molecular assessments of Hematologic disorders.

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A New View of Cancer Pathways in Pediatric Leukemia
A New View of Cancer Pathways in Pediatric Leukemia

Researchers use targeted RNA sequencing to understand the role of fusion genes in pediatric leukemia.

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How NGS is Changing Clinical Cancer Research

Dr. Andrew Fellowes from Peter MacCallum Cancer Centre discusses how his team uses Illumina technology.

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Capturing Variant Data from the Blood

Deep analysis of exosomal DNA found in the blood of pancreatic cancer subjects offers insight into the potential of liquid biopsies.

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  1. Ciriello G, Miller ML, Aksoy BA, Senbabaoglu Y, Schultz N, Sander C. Emerging landscape of oncogenic signatures across human cancers. Nat Genet. 2013;45:1127-1133.
  2. Nature TCGA | TCGA Pan-Cancer Analysis (

* Data calculations on file. Illumina, Inc. 2015.