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    Mutation

    Mutation: the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.

    Webinars

    • NOV 11, 2015 | 6:00 AM
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
      Speaker: Raed Samara, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
      2
      NOV 11, 2015 | 6:00 AM
      Clinical next-generation sequencing for precision cancer therapeutics
      Clinical next-generation sequencing for precision cancer therapeutics
      Next-generation sequencing has emerged as a valuable tool for generating patient-specific genetic information for clinical diagnostics and optimal selection of targeted therapies. The heterog...
      Speaker: Christina (Tina) Lockwood, PhD, DABCC, FACB
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
      2
      OCT 01, 2015 | 12:00 PM
      Detection and sequencing of rare mutations using mutation enrichment via COLD-PCR
      Detection and sequencing of rare mutations using mutation enrichment...
      Detection of rare mutations is required for reliable identification of mutations in liquid biopsies and heterogeneous tumors. Yet low-level mutation detection remains a technically challengin...
      Speaker: Mike Makrigiorgos, PhD, DABMP
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
      2
      OCT 01, 2015 | 9:30 AM
      WEBINAR: Extracellular Vesicle Isolation by Flow Cytometric Sorting and Characterization by Analytical Ultra-Centrifugation and Dynamic Light Scatter
      WEBINAR: Extracellular Vesicle Isolation by Flow Cytometric Sorting...
      Background:  The extracellular vesicle (EV) research field has dramatically increased in the last five years.  Using a high-speed flow cytometric sorter, EVs may be isolated at high...
      Speaker: Carley Ross, PhD
      Presented at: Beckman Coulter Life Sciences Virtual Trade Show
      Sponsored By: Beckman Coulter Life Sciences, Beckman Coulter Life Sciences
      8
      OCT 01, 2015 | 7:30 AM
      A Case Study for Immunotherapies and Targeted Therapies
      A Case Study for Immunotherapies and Targeted Therapies
      Melanoma, a cancer of pigment-producing cells, accounts for nearly 200,000 new cases of cancer reported each year worldwide. It is the deadliest skin cancer. Alarmingly, in the U.S., the inci...
      Speaker: Louise Perkins, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
      2
      OCT 01, 2015 | 6:00 AM
      Emerging role of liquid biopsies and NGS for biomarker discovery
      Emerging role of liquid biopsies and NGS for biomarker discovery
      Precision medicine promises a more effective approach to disease treatment and management. It is based on analyzing mutations of disease samples to unlock mechanisms of disease development an...
      Speaker: Raed Samara, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
      2
      SEP 30, 2015 | 1:30 PM
      SuperSelective Primers for the Multiplex Quantitation of Rare Mutant Sequences Associated with Cancer
      SuperSelective Primers for the Multiplex Quantitation of Rare...
      A major goal of molecular diagnostics is to find a sensitive and specific means for detecting and quantifying DNA fragments from rare cancer cells (by virtue of an identifying somatic mutatio...
      Speaker: Fred Kramer, PhD
      Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
      2
      SEP 09, 2015 | 9:00 AM
      WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling
      WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected...
      DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
      Speaker: A. John Iafrate, MD, PhD
      Sponsored By: Archer DX, Archer DX
      7 1
      JUN 17, 2015 | 8:00 AM
      Real-Time Profiling of Tumor Heterogeneity in Metastatic Disease
      Real-Time Profiling of Tumor Heterogeneity in Metastatic Disease
      DATE: June 17th, 2015TIME: 8am Pacific time, 11am Eastern timeSpatial heterogeneity of tumors has been identified within and between metastatic lesions and can be visualized wit...
      Speaker: Mark Landers
      Sponsored By: Epic Sciences, Epic Sciences
      15 2
      JUN 10, 2015 | 2:00 PM
      Personalized medicine
      Personalized medicine
      Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
      Speaker: Stephen Lyle, MD, PhD
      Presented at: Cardinal Health labXchange
      Sponsored By: Cardinal Healthâ„¢ OptiFreight® Logistics
      2
      MAY 14, 2015 | 1:30 PM
      Germline Cancer Genetics in 2015
      Germline Cancer Genetics in 2015
      Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
      Speaker: Judy E Garber, MD, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4
      MAY 14, 2015 | 10:30 AM
      Deep mutational scanning to measure the impact of mutations in proteins on the molecular and organismal level
      Deep mutational scanning to measure the impact of mutations in...
      Deep mutational scanning is a method that marries selection for protein function amongst a large library of protein variants with high-throughput DNA sequencing to measure the activity of hun...
      Speaker: Douglas Fowler, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      2
      MAY 14, 2015 | 6:00 AM
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
      Speaker: Vikram Devgan, PhD, MBA
      Presented at: Genetics and Genomics Virtual Event Series 2015
      3
      MAY 13, 2015 | 3:00 PM
      Population genomics of sex chromosome evolution
      Population genomics of sex chromosome evolution
      There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
      Speaker: Melissa A Wilson Sayres, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      0
      MAY 13, 2015 | 1:30 PM
      Epigenomics of common, rare, and somatic variants underlying disease and cancer
      Epigenomics of common, rare, and somatic variants underlying disease...
      Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
      Speaker: Manolis Kellis, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4
      JAN 21, 2015 | 10:00 PM
      NGS-Quality Sample Preparation with Covaris Adaptive Focused Acoustics (AFAâ„¢)
      NGS-Quality Sample Preparation with Covaris Adaptive Focused Acoustics...
       In this presentation we will illustrate the advantages of AFA technology in clinically significant applications (NGS, FFPE, ChIP) and will demonstrate the flexibility of Covaris AFA in deliv...
      Speaker: Hamid Khoja Ph.D.
      Sponsored By: Covaris, Inc., Covaris, Inc.
      8
      OCT 30, 2014 | 3:00 PM
      Clinical Shotgun Proteomics in Cancer Biomarker and Drug Target Research/Discovery
      Clinical Shotgun Proteomics in Cancer Biomarker and Drug Target...
      Mass spectrometry (MS)-based profiling of clinical specimens has been increasingly used in cancer research to characterize changes in protein expression between tumor and healthy tissue or be...
      Speaker: Josip Blonder, MD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      30
      OCT 30, 2014 | 3:00 PM
      Probing cancer metabolism using isotope tracers to identify therapeutic targets
      Probing cancer metabolism using isotope tracers to identify therapeutic...
      Oncogenic mutations in isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) compromise their normal activity and induce NADPH-dependent (D)2-hydroxyglutarate (2HG) production within the cytosol or m...
      Speaker: Christian Metallo, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      16
      OCT 30, 2014 | 1:30 PM
      Structural Pathways of Cancer
      Structural Pathways of Cancer
      Structural pathways are important. They are essential to the understanding of how oncogenic mutations work and to figuring out alternative parallel pathways in drug resistant mutants. Structu...
      Speaker: Ruth Nussinov, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      16
      OCT 30, 2014 | 10:30 AM
      Genomics in the Clinic: Promises and Challenges
      Genomics in the Clinic: Promises and Challenges
      Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
      Speaker: John Carpten, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      12
      OCT 30, 2014 | 9:00 AM
      A head-to-head comparison of whole blood derived samples (cfDNA vs CTC DNA) for cancer research using next-generation sequencing
      A head-to-head comparison of whole blood derived samples (cfDNA...
      Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
      Speaker: Paul W. Dempsey, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      0
      OCT 30, 2014 | 6:00 AM
      Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative Neoplasms
      Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative...
      When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
      Speaker: Kristin Landis-Piwowar, PhD, MLS
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      8
      OCT 29, 2014 | 3:00 PM
      Drug-tailored, efficacy-predictive and prognostic biomarker approaches for proper patient selection
      Drug-tailored, efficacy-predictive and prognostic biomarker approaches...
      Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
      Speaker: Peter Blume-Jensen, MD, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      0
      OCT 29, 2014 | 1:30 PM
      Protein phosphatase 2A in cell survival upon metabolic stress
      Protein phosphatase 2A in cell survival upon metabolic stress
      Tumor cells often display fundamental changes in metabolism and increase their uptake of nutrients to meet the increased bioenergetic demands of proliferation. Glucose and glutamine are two m...
      Speaker: Mei Kong, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      10
    NOV 11, 2015 | 6:00 AM
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
    Speaker: Raed Samara, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
    2
    NOV 11, 2015 | 6:00 AM
    Clinical next-generation sequencing for precision cancer therapeutics
    Clinical next-generation sequencing for precision cancer therapeutics
    Next-generation sequencing has emerged as a valuable tool for generating patient-specific genetic information for clinical diagnostics and optimal selection of targeted therapies. The heterog...
    Speaker: Christina (Tina) Lockwood, PhD, DABCC, FACB
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2015
    2
    OCT 01, 2015 | 12:00 PM
    Detection and sequencing of rare mutations using mutation enrichment via COLD-PCR
    Detection and sequencing of rare mutations using mutation enrichment...
    Detection of rare mutations is required for reliable identification of mutations in liquid biopsies and heterogeneous tumors. Yet low-level mutation detection remains a technically challengin...
    Speaker: Mike Makrigiorgos, PhD, DABMP
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
    2
    OCT 01, 2015 | 9:30 AM
    WEBINAR: Extracellular Vesicle Isolation by Flow Cytometric Sorting and Characterization by Analytical Ultra-Centrifugation and Dynamic Light Scatter
    WEBINAR: Extracellular Vesicle Isolation by Flow Cytometric Sorting...
    Background:  The extracellular vesicle (EV) research field has dramatically increased in the last five years.  Using a high-speed flow cytometric sorter, EVs may be isolated at high...
    Speaker: Carley Ross, PhD
    Presented at: Beckman Coulter Life Sciences Virtual Trade Show
    Sponsored By: Beckman Coulter Life Sciences, Beckman Coulter Life Sciences
    8
    OCT 01, 2015 | 7:30 AM
    A Case Study for Immunotherapies and Targeted Therapies
    A Case Study for Immunotherapies and Targeted Therapies
    Melanoma, a cancer of pigment-producing cells, accounts for nearly 200,000 new cases of cancer reported each year worldwide. It is the deadliest skin cancer. Alarmingly, in the U.S., the inci...
    Speaker: Louise Perkins, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
    2
     
     
  • OCT 01, 2015 | 6:00 AM
    Emerging role of liquid biopsies and NGS for biomarker discovery
    Emerging role of liquid biopsies and NGS for biomarker discovery
    Precision medicine promises a more effective approach to disease treatment and management. It is based on analyzing mutations of disease samples to unlock mechanisms of disease development an...
    Speaker: Raed Samara, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
    2
    SEP 30, 2015 | 1:30 PM
    SuperSelective Primers for the Multiplex Quantitation of Rare Mutant Sequences Associated with Cancer
    SuperSelective Primers for the Multiplex Quantitation of Rare...
    A major goal of molecular diagnostics is to find a sensitive and specific means for detecting and quantifying DNA fragments from rare cancer cells (by virtue of an identifying somatic mutatio...
    Speaker: Fred Kramer, PhD
    Presented at: Cancer Research & Oncology Week Virtual Event Series 2015
    2
    SEP 09, 2015 | 9:00 AM
    WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling
    WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected...
    DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
    Speaker: A. John Iafrate, MD, PhD
    Sponsored By: Archer DX, Archer DX
    7 1
    JUN 17, 2015 | 8:00 AM
    Real-Time Profiling of Tumor Heterogeneity in Metastatic Disease
    Real-Time Profiling of Tumor Heterogeneity in Metastatic Disease
    DATE: June 17th, 2015TIME: 8am Pacific time, 11am Eastern timeSpatial heterogeneity of tumors has been identified within and between metastatic lesions and can be visualized wit...
    Speaker: Mark Landers
    Sponsored By: Epic Sciences, Epic Sciences
    15 2
    JUN 10, 2015 | 2:00 PM
    Personalized medicine
    Personalized medicine
    Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
    Speaker: Stephen Lyle, MD, PhD
    Presented at: Cardinal Health labXchange
    Sponsored By: Cardinal Healthâ„¢ OptiFreight® Logistics
    2
     
     
  • MAY 14, 2015 | 1:30 PM
    Germline Cancer Genetics in 2015
    Germline Cancer Genetics in 2015
    Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
    Speaker: Judy E Garber, MD, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4
    MAY 14, 2015 | 10:30 AM
    Deep mutational scanning to measure the impact of mutations in proteins on the molecular and organismal level
    Deep mutational scanning to measure the impact of mutations in...
    Deep mutational scanning is a method that marries selection for protein function amongst a large library of protein variants with high-throughput DNA sequencing to measure the activity of hun...
    Speaker: Douglas Fowler, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    2
    MAY 14, 2015 | 6:00 AM
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
    Speaker: Vikram Devgan, PhD, MBA
    Presented at: Genetics and Genomics Virtual Event Series 2015
    3
    MAY 13, 2015 | 3:00 PM
    Population genomics of sex chromosome evolution
    Population genomics of sex chromosome evolution
    There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
    Speaker: Melissa A Wilson Sayres, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    0
    MAY 13, 2015 | 1:30 PM
    Epigenomics of common, rare, and somatic variants underlying disease and cancer
    Epigenomics of common, rare, and somatic variants underlying disease...
    Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
    Speaker: Manolis Kellis, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4
     
     
  • JAN 21, 2015 | 10:00 PM
    NGS-Quality Sample Preparation with Covaris Adaptive Focused Acoustics (AFAâ„¢)
    NGS-Quality Sample Preparation with Covaris Adaptive Focused Acoustics...
     In this presentation we will illustrate the advantages of AFA technology in clinically significant applications (NGS, FFPE, ChIP) and will demonstrate the flexibility of Covaris AFA in deliv...
    Speaker: Hamid Khoja Ph.D.
    Sponsored By: Covaris, Inc., Covaris, Inc.
    8
    OCT 30, 2014 | 3:00 PM
    Clinical Shotgun Proteomics in Cancer Biomarker and Drug Target Research/Discovery
    Clinical Shotgun Proteomics in Cancer Biomarker and Drug Target...
    Mass spectrometry (MS)-based profiling of clinical specimens has been increasingly used in cancer research to characterize changes in protein expression between tumor and healthy tissue or be...
    Speaker: Josip Blonder, MD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    30
    OCT 30, 2014 | 3:00 PM
    Probing cancer metabolism using isotope tracers to identify therapeutic targets
    Probing cancer metabolism using isotope tracers to identify therapeutic...
    Oncogenic mutations in isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) compromise their normal activity and induce NADPH-dependent (D)2-hydroxyglutarate (2HG) production within the cytosol or m...
    Speaker: Christian Metallo, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    16
    OCT 30, 2014 | 1:30 PM
    Structural Pathways of Cancer
    Structural Pathways of Cancer
    Structural pathways are important. They are essential to the understanding of how oncogenic mutations work and to figuring out alternative parallel pathways in drug resistant mutants. Structu...
    Speaker: Ruth Nussinov, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    16
    OCT 30, 2014 | 10:30 AM
    Genomics in the Clinic: Promises and Challenges
    Genomics in the Clinic: Promises and Challenges
    Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
    Speaker: John Carpten, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    12
     
     
  • OCT 30, 2014 | 9:00 AM
    A head-to-head comparison of whole blood derived samples (cfDNA vs CTC DNA) for cancer research using next-generation sequencing
    A head-to-head comparison of whole blood derived samples (cfDNA...
    Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
    Speaker: Paul W. Dempsey, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    0
    OCT 30, 2014 | 6:00 AM
    Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative Neoplasms
    Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative...
    When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
    Speaker: Kristin Landis-Piwowar, PhD, MLS
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    8
    OCT 29, 2014 | 3:00 PM
    Drug-tailored, efficacy-predictive and prognostic biomarker approaches for proper patient selection
    Drug-tailored, efficacy-predictive and prognostic biomarker approaches...
    Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
    Speaker: Peter Blume-Jensen, MD, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    0
    OCT 29, 2014 | 1:30 PM
    Protein phosphatase 2A in cell survival upon metabolic stress
    Protein phosphatase 2A in cell survival upon metabolic stress
    Tumor cells often display fundamental changes in metabolism and increase their uptake of nutrients to meet the increased bioenergetic demands of proliferation. Glucose and glutamine are two m...
    Speaker: Mei Kong, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    10
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