DNA mutations have been implicated in several diseases, particularly cancer. NGS presents an ideal technology to efficiently profile the multitude of mutations in a high throughput manner. In 2001 the first draft of human genome was published. Since then many major milestones have been reached. Do you know when PIK3CA was identified in colon cancer? When was Olaparib for ovarian cancer treatment? This infographic traces the major clinical research milestones starting from the first draft of the human genome.

1. Identification of BRAF mutations
in melanomas
First draft of the human genome is published
Identification of PIK3CA in colon cancer
Identification of EGFR mutations
in lung cancer
T315I resistance mechanism identified
T790M mutation in EGFR, which mediates resistance
to tyrosine kinase inhibitors, is reported
JAK2 V617F mutation and JAK2
exon 12 mutations identified in
myelodysplastic disorders
Databases are created to describe the common
patterns of human genetic variation
Identification of EGFR mutations in patients responsive
to gefitinib, a tyrosine inhibitor
Identification 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
Identification 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
Identification of ABL mutations
MPL codon 515 mutation identified in
myeloproliferative and other myeloid disorders
Mechanisms of resistance to cetuximab, an
anti-EGFR monoclonal antibody, are identified
First whole genome of a cancer (AML) published
The creation of a non-profit 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
Identification 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
Identification 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 profiling of 230 resected lung
adenocarcinomas (KRAS, EGFR, NF1)
Olaparib is approved in USA/EU for treatment of
ovarian cancer with germline BRCA mutations
2001
2002
2004
2005
2006
2007
2008
2009
2010
2011
2014
2012
2013
Angelina Jolie reveals she had a double
mastectomy after learning that she had a
hereditary BRCA1 gene mutation
Next−Generation Sequencing
Clinical 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
identifies a mutational profile 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 specific
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 profile
these mutations. NGS presents the ideal technology to efficiently profile the
multitude of mutations in a high throughput manner.
Novel human papillomavirus (HPV)
lineages and sublineages identified
QIAGEN launches QIAseqTM
— the true
complete Sample to Insight NGS solution
2016
Novel biomarkers for accurate diagnosis of
NSCLC identified
Complete genome sequences of two novel isolates
of human parainfluenza virus 1 published
QIAscout: affordable single cell
isolation tool for every lab
launched by QIAGEN
Novel ELAVL1-TYK2 fusion gene identified in AML
cell line
View the NGS Commercial Milestones Infographic