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
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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
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