Identi�cation of BRAF mutations in melanomas

First draft of the human genome is published

Identi�cation of PIK3CA in colon cancer

Identi�cation of EGFR mutations in lung cancer

T315I resistance mechanism identi�ed

T790M mutation in EGFR, which mediates resistance to tyrosine kinase inhibitors, is reported

JAK2 V617F mutation and JAK2 exon 12 mutations identi�ed in myelodysplastic disorders

Databases are created to describe the common patterns of human genetic variation

Identi�cation of EGFR mutations in patients responsive to ge�tinib, a tyrosine inhibitor

Identi�cation of ETS-ETV4 translocation in prostate cancer, shedding more light on the molecular mechanisms driving development of the disease

cMet and Her3 confer resistance to EGFR inhibitors

Identi�cation of EML4-ALK translocation in non-small cell lung cancer

First cancer exomes revealed (breast and colon)

First genome-wide association study (GWAS) for cancer

Mutant KRAS confers resistance to cetuximab, an anti-EGFR monoclonal antibody

Identi�cation of ABL mutations

MPL codon 515 mutation identi�ed in myeloproliferative and other myeloid disorders

Mechanisms of resistance to cetuximab, an anti-EGFR monoclonal antibody, are identi�ed

First whole genome of a cancer (AML) published

The creation of a non-pro�t organization that facilitates the translation of genomic discoveries

First comprehensive genetic maps of lung cancer and melanoma published

Detection of inherited mutations for breast and ovarian cancer using targeted NGS

Identi�cation of IDH1 mutations in gliomas, a type of brain cancer

Comprehensive molecular characterization of human colon and rectal cancer via NGS

Ovarian cancer sub-types differentiated by unique molecular signatures

Vemurafenib approved to target V600E mutation of BRAF

Generic landscape of kidney cancer is mapped

Mutational landscape of breast cancer examined by NGS

Identi�cation and monitoring of cancer mutations by NGS using a liquid biopsy approach

Retrospective analysis of a phase II clinical trial demonstrates that BRCA mutations sensitize ovarian tumors to olaparib, a PARP inhibitor

Two groups of researchers identify somatic CALR exon 9 mutations in myeloproliferative neoplasms

Researchers utilize a targeted NGS approach to map a network of 100 genes associated with Myelodysplastic Syndrome (MDS)

TCGA researchers report comprehensive molecular pro�ling of 230 resected lung adenocarcinomas (KRAS, EGFR, NF1)

Olaparib is approved in USA/EU for treatment of ovarian cancer with germline BRCA mutations

2001

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2013

Angelina Jolie reveals she had a double mastectomy after learning that she had a hereditary BRCA1 gene mutation

Next−Generation SequencingClinical Research Milestones

The application of NGS in cancer research enabled the discovery of novel mutations at an unprecedented speed, accuracy and throughput. NGS is also being applied for the detection of mutations known to contribute to the development and progression of diseases, particularly cancer.

Sample to Insight

A novel EGFR mutation, C797S, that mediates resistance to EGFR inhibitors is discovered by targeted NGS using a liquid biopsy approach

Targeted NGS analysis using a 113-gene panel identi�es a mutational pro�le that predicts responsiveness of prostate cancer to olaparib

2015

SNV (Single Nucleotide Variant)

A permanent change of the nucleotide sequence in a genome

G T

SNP (Single Nucleotide Polymorphism)

A variation in a single nucleotide which may occur at some speci�c position in the genome

C A

Insertion

Addition of one or more nucleotide base pairs into a DNA sequence

GTCGT GTCGTTGCCGT

Deletion

Omission of one or more nucleotide base pairs from a DNA sequence

GTCGTTGCCGT GTCGT

Repeats

Repetitive sequences in the genome

ATGTAGCTGTCGTCGTC

Homopolymer

Stretches of the same nucleotide in a genome

GTCGGGGGGGGGGATTG

CNV (Copy Number Variation)

Alterations in the DNA of a genome resulting in variations in the number of copies of one or more DNA sections

Human genetic variation

All humans share 99.5% of the same DNA sequence

High GC regions

Genomic regions that have a high concentration of G and C nucleotides

GCGGCCCCGGCGCGGC

Human genome

The human genome is composed of approximately 3.2 billion nucleotides

Human nucleotide diversity

Human nucleotide diversity between two people is roughly 0.1 − 0.4% (~3 million nucleotide differences)

Human DNA and genome

The sequence of the 4 bases of DNA, (adenine, cytosine, guanine, thymine) form the instructions in the genome for creating all human proteins

Trademarks: QIAGEN®, Sample to Insight®, (QIAGEN Group).

© 2016 QIAGEN, all rights reserved

DNA mutations have been implicated in several diseases, particularly cancer. Studies have shown that multiple DNA mutations drive the development and progression of cancer. Several technologies have been developed to pro�le these mutations. NGS presents the ideal technology to ef�ciently pro�le the multitude of mutations in a high throughput manner.

Novel human papillomavirus (HPV) lineages and sublineages identi�ed

QIAGEN launches QIAseqTM — the true complete Sample to Insight NGS solution

2016

Novel biomarkers for accurate diagnosis of NSCLC identi�ed

Complete genome sequences of two novel isolates of human parain�uenza virus 1 published

QIAscout: affordable single cell isolation tool for every lab launched by QIAGEN

Novel ELAVL1-TYK2 fusion gene identi�ed in AML cell line

View the NGS Commercial Milestones Infographic