Next-Generation Sequencing Clinical Research Milestones Infographic
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The document discusses numerous significant advancements in cancer genetics, including the identification of various mutations associated with different cancer types and the application of next-generation sequencing (NGS) technologies for their detection. Key findings include the recognition of resistance mechanisms to therapies like EGFR inhibitors, the discovery of biomarkers for specific cancer responses, and the establishment of genetic mapping for several cancers. Additionally, the document highlights the role of NGS in accelerating genetic research and improving patient diagnosis and treatment options.
Next-Generation Sequencing Clinical Research Milestones Infographic
- 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