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    Gene mutations

    Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.

    Webinars

    • OCT 17, 2013 | 2:00 PM
      C.E. CREDITS
      Oncoproteins K-Ras and Pim kinases as molecular targets in pancreatic cancer
      Oncoproteins K-Ras and Pim kinases as molecular targets in pancreatic...
      Pancreatic cancer is the 4th most common cause of cancer deaths in the United States. Due to the aggressive nature of this cancer and the lack of biomarkers for early detection, the incidence...
      Speaker: Antonio T. Baines, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      72
      OCT 17, 2013 | 7:00 AM
      Advancing Translational Cancer Research through Automated RNASeq Sample Preparation from Archival FFPE Tissue Specimens
      Advancing Translational Cancer Research through Automated RNASeq...
      RNA-Seq allows the simultaneous observation of gene expression levels, mutations in the coding sequences, splice variants and gene fusions, which are especially important in cancer studies. A...
      Speaker: Michaela Bowden, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      98
      OCT 17, 2013 | 6:00 AM
      A Bioinformatics Approach to Clinical Sequencing
      A Bioinformatics Approach to Clinical Sequencing
      The widespread adoption of precision medicine in oncology requires: a compendium of therapies targeting the genetic vulnerabilities of cancer; the diagnostic tools capable of generating a pr...
      Speaker: Dan Rhodes, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      80
      OCT 16, 2013 | 3:00 PM
      C.E. CREDITS
      The roles of Ack family kinases in Drosophila development
      The roles of Ack family kinases in Drosophila development
      Deregulation of ACK1, a non-receptor tyrosine kinase originally identified by its ability to bind to GTP-bound Cdc42 (hence the name: activated Cdc42-associated kinase)(Manser et al., 1993),...
      Speaker: Henry Chang, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      42
      OCT 16, 2013 | 1:00 PM
      C.E. CREDITS
      Resistance to AR Signaling Inhibitors in Castration Resistant Prostate Cancer
      Resistance to AR Signaling Inhibitors in Castration Resistant...
      While androgen deprivation therapy (ADT) remains the primary treatment modality for patients with metastatic prostate cancer (PCa), treatment is uniformly marked by progression to castration-...
      Speaker: Elahe A Mostaghel, MD, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      80
      OCT 16, 2013 | 1:00 PM
      C.E. CREDITS
      Investigating tissue specificity of cancer-causing germline mutations
      Investigating tissue specificity of cancer-causing germline mutations
      The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
      Speaker: Jessica C. Mar, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      68
      OCT 16, 2013 | 9:00 AM
      C.E. CREDITS
      Keynote: Breast Cancer Genomics and Genetics
      Keynote: Breast Cancer Genomics and Genetics
      It is now appreciated that breast cancer is not a single disease, but instead is a spectrum of tumor subtypes with distinct cellular origins, somatic changes and somewhat predictable clinical...
      Speaker: Charles M. Perou, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      132
      OCT 16, 2013 | 6:00 AM
      Building an Ion AmpliSeq Colon and Lung Cancer Panel - Consortium development of a tool for clinical research applications
      Building an Ion AmpliSeq Colon and Lung Cancer Panel - Consortium...
      The knowledge of molecular alterations involved in colon carcinoma (CRC) and non-small-cell lung carcinoma (NSCLC) has significantly increased in the past few years. Molecular subgroups of t...
      Speaker: Nicola Normanno, MD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      102
      AUG 22, 2013 | 10:00 AM
      C.E. CREDITS
      Clinical Interpretation of Sequence Variants
      Clinical Interpretation of Sequence Variants
      The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
      Speaker: Elaine Lyon, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      72
      AUG 21, 2013 | 3:00 PM
      C.E. CREDITS
      Investigating tissue specificity of cancer-causing germline mutations
      Investigating tissue specificity of cancer-causing germline mutations
      The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
      Speaker: Jessica C. Mar, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      70
      AUG 21, 2013 | 10:00 AM
      C.E. CREDITS
      Genomic Approaches to Discover Biomarkers of Drug Response in Cancer
      Genomic Approaches to Discover Biomarkers of Drug Response in...
      Massively parallel sequencing technology has proven to enable the identification of driver genetic alterations in patients' tumors that may be suppressed by targeted therapies. Through retros...
      Speaker: Michael F Berger, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      117
      AUG 21, 2013 | 10:00 AM
      C.E. CREDITS
      Azole resistance in Aspergillus fumigatus - clinical isolate screening, culture selection, and genetics
      Azole resistance in Aspergillus fumigatus - clinical isolate screening,...
      In the United States, invasive aspergillosis (IA), an invasive fungal infection of the upper respiratory tract of immune compromised patients, is usually caused by Aspergilus fumigatus, while...
      Speaker: William C Nierman, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      67
      AUG 21, 2013 | 8:00 AM
      Post Genome-Wide Association Studies
      Post Genome-Wide Association Studies
      In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      105
      AUG 21, 2013 | 6:00 AM
      What to use for targeted re-sequencing - microarrays or NGS?
      What to use for targeted re-sequencing - microarrays or NGS?
      Genetic testing is becoming a widespread practice and with human genome fully sequenced we want to develop best methods to do it. Single gene or single mutation screening is pretty much becom...
      Speaker: Agnieszka Lichanska, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      55
      MAY 30, 2013 | 12:00 PM
      Companion Diagnostics Co-Development: Are you ready?
      Companion Diagnostics Co-Development: Are you ready?
      Development of a companion diagnostic can be critical to the success of a drug. Pharmaceutical companies are committing more and more of their efforts to discover and deliver targeted therapi...
      Speaker: Janice Au-Young, PhD
      Presented at: Clinical Diagnostics Virtual Event Series 2013
      15
    OCT 17, 2013 | 2:00 PM
    C.E. CREDITS
    Oncoproteins K-Ras and Pim kinases as molecular targets in pancreatic cancer
    Oncoproteins K-Ras and Pim kinases as molecular targets in pancreatic...
    Pancreatic cancer is the 4th most common cause of cancer deaths in the United States. Due to the aggressive nature of this cancer and the lack of biomarkers for early detection, the incidence...
    Speaker: Antonio T. Baines, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    72
    OCT 17, 2013 | 7:00 AM
    Advancing Translational Cancer Research through Automated RNASeq Sample Preparation from Archival FFPE Tissue Specimens
    Advancing Translational Cancer Research through Automated RNASeq...
    RNA-Seq allows the simultaneous observation of gene expression levels, mutations in the coding sequences, splice variants and gene fusions, which are especially important in cancer studies. A...
    Speaker: Michaela Bowden, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    98
    OCT 17, 2013 | 6:00 AM
    A Bioinformatics Approach to Clinical Sequencing
    A Bioinformatics Approach to Clinical Sequencing
    The widespread adoption of precision medicine in oncology requires: a compendium of therapies targeting the genetic vulnerabilities of cancer; the diagnostic tools capable of generating a pr...
    Speaker: Dan Rhodes, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    80
    OCT 16, 2013 | 3:00 PM
    C.E. CREDITS
    The roles of Ack family kinases in Drosophila development
    The roles of Ack family kinases in Drosophila development
    Deregulation of ACK1, a non-receptor tyrosine kinase originally identified by its ability to bind to GTP-bound Cdc42 (hence the name: activated Cdc42-associated kinase)(Manser et al., 1993),...
    Speaker: Henry Chang, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    42
    OCT 16, 2013 | 1:00 PM
    C.E. CREDITS
    Resistance to AR Signaling Inhibitors in Castration Resistant Prostate Cancer
    Resistance to AR Signaling Inhibitors in Castration Resistant...
    While androgen deprivation therapy (ADT) remains the primary treatment modality for patients with metastatic prostate cancer (PCa), treatment is uniformly marked by progression to castration-...
    Speaker: Elahe A Mostaghel, MD, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    80
     
     
  • OCT 16, 2013 | 1:00 PM
    C.E. CREDITS
    Investigating tissue specificity of cancer-causing germline mutations
    Investigating tissue specificity of cancer-causing germline mutations
    The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
    Speaker: Jessica C. Mar, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    68
    OCT 16, 2013 | 9:00 AM
    C.E. CREDITS
    Keynote: Breast Cancer Genomics and Genetics
    Keynote: Breast Cancer Genomics and Genetics
    It is now appreciated that breast cancer is not a single disease, but instead is a spectrum of tumor subtypes with distinct cellular origins, somatic changes and somewhat predictable clinical...
    Speaker: Charles M. Perou, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    132
    OCT 16, 2013 | 6:00 AM
    Building an Ion AmpliSeq Colon and Lung Cancer Panel - Consortium development of a tool for clinical research applications
    Building an Ion AmpliSeq Colon and Lung Cancer Panel - Consortium...
    The knowledge of molecular alterations involved in colon carcinoma (CRC) and non-small-cell lung carcinoma (NSCLC) has significantly increased in the past few years. Molecular subgroups of t...
    Speaker: Nicola Normanno, MD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    102
    AUG 22, 2013 | 10:00 AM
    C.E. CREDITS
    Clinical Interpretation of Sequence Variants
    Clinical Interpretation of Sequence Variants
    The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
    Speaker: Elaine Lyon, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    72
    AUG 21, 2013 | 3:00 PM
    C.E. CREDITS
    Investigating tissue specificity of cancer-causing germline mutations
    Investigating tissue specificity of cancer-causing germline mutations
    The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
    Speaker: Jessica C. Mar, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    70
     
     
  • AUG 21, 2013 | 10:00 AM
    C.E. CREDITS
    Genomic Approaches to Discover Biomarkers of Drug Response in Cancer
    Genomic Approaches to Discover Biomarkers of Drug Response in...
    Massively parallel sequencing technology has proven to enable the identification of driver genetic alterations in patients' tumors that may be suppressed by targeted therapies. Through retros...
    Speaker: Michael F Berger, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    117
    AUG 21, 2013 | 10:00 AM
    C.E. CREDITS
    Azole resistance in Aspergillus fumigatus - clinical isolate screening, culture selection, and genetics
    Azole resistance in Aspergillus fumigatus - clinical isolate screening,...
    In the United States, invasive aspergillosis (IA), an invasive fungal infection of the upper respiratory tract of immune compromised patients, is usually caused by Aspergilus fumigatus, while...
    Speaker: William C Nierman, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    67
    AUG 21, 2013 | 8:00 AM
    Post Genome-Wide Association Studies
    Post Genome-Wide Association Studies
    In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    105
    AUG 21, 2013 | 6:00 AM
    What to use for targeted re-sequencing - microarrays or NGS?
    What to use for targeted re-sequencing - microarrays or NGS?
    Genetic testing is becoming a widespread practice and with human genome fully sequenced we want to develop best methods to do it. Single gene or single mutation screening is pretty much becom...
    Speaker: Agnieszka Lichanska, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    55
    MAY 30, 2013 | 12:00 PM
    Companion Diagnostics Co-Development: Are you ready?
    Companion Diagnostics Co-Development: Are you ready?
    Development of a companion diagnostic can be critical to the success of a drug. Pharmaceutical companies are committing more and more of their efforts to discover and deliver targeted therapi...
    Speaker: Janice Au-Young, PhD
    Presented at: Clinical Diagnostics Virtual Event Series 2013
    15
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