Precision Medicine-Molecular Mechanisms of Cancer Development and Actionable Genes

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Author: Tabetha Sundin, PhD, HCLD (ABB), MB (ASCP)CM
Reviewer: Timothy Walls, M.D., M.S.

This course covers some basic genetic principles as well as how changes to the genetic code can lead to carcinogenesis. The course also addresses how personalized medicine is aided by molecular diagnostics to match the patient with the correct targeted therapy.

Continuing Education Credits

Objectives

  • Describe basic genetics principles including DNA replication and repair.
  • Discuss how changes to the genetic code can lead to tumor formation.
  • Discuss the role that genetics and the environment play in carcinogenesis.
  • Describe what personalized medicine is and the benefit that patients will receive if they are candidates for personalized medicine.
  • Describe technologies used by molecular diagnostics laboratories to genotype patient tumors in order to match them with the correct targeted therapy.

Course Outline

  • Genetics
      • Basic Mendelian Genetics
      • Basic Mendelian Genetics, Continued:
      • Darwinian Evolution
      • Which of the statements below is true according to the Law of Independent Assortment?
      • A gene with 2 different alleles is termed heterozygous.
      • Central Dogma of Molecular Biology
      • Nucleic Acid
      • Protein
      • According to the central dogma of molecular biology, DNA must be translated into RNA before being transcribed into protein.
      • What are the 3 components of a nucleotide?
      • DNA Replication
      • Transcription
      • Translation
      • What is the process where DNA is duplicated called?
      • In RNA what is the correct base pairing between nucleotides?
      • Stem Cells
      • Chromosomes
      • Karyotype
      • Cell cycle
      • How many pairs of chromosomes does a human with a euploid karyotype have?
      • What is the central point where two chromatids are joined called?
  • DNA Damage and Repair
      • Mutation Types
      • Germline Mutations vs Somatic Mutations
      • A mutation in a somatic cell will be passed onto offspring.
      • Germline mutations can be passed down to offspring.
      • DNA Damage
      • Genetic Contributions to Cancer
      • Physical Carcinogens
      • Chemical Carcinogens
      • Oncogenic Viruses
      • What are the three classifications of carcinogens?
      • Which of the following would be considered a chemical carcinogen?
      • DNA Repair
      • Single-Strand Break Repair
      • Double-Strand Break Repair
      • Which of the following is an example of a type of single-strand repair?
      • Which type of DNA repair is used to fix a single base that was added to a DNA strand without proper base-pairing?
  • Tumorigenesis
      • Tumorigenesis
      • Hallmarks of Cancer
      • How do cancer cells become immortal?
      • Tumor Suppressors
      • Oncogenes
      • Which of the following is a mechanism that a cancer cell uses to hide from the immune system?
      • If an oncogene loses a function it can lead to cancer formation.
  • Personalized Medicine
      • Biomarkers
      • Molecular Methods for Biomarker Detection
      • PCR
      • Sanger Sequencing
      • Next-Generation Sequencing
      • Next Generation Sequencing Technologies
      • Which technology is used most often to detect single nucleotide polymorphisms (SNPs) or point mutations such as those seen in oncogenes?
      • Which technology would be most efficient to use to evaluate mutations in a tumor suppressor gene?
      • Chemotherapy
      • Companion Diagnostics
      • Immunotherapy
      • Personalized Medicine
      • What is a companion diagnostic?
  • References
      • References

Additional Information

Level of instruction: Intermediate 

Intended audience:  This course is intended for molecular biology bench technicians and technologists, supervisors, and administrators. 
 
Course description: This course covers some basic genetic principles as well as how changes to the genetic code can lead to carcinogenesis. The course also addresses how personalized medicine is aided by molecular diagnostics to match the patient with the correct targeted therapy.

Author information: Tabetha Sundin, PhD, HCLD (ABB), MB (ASCP)CM, has over 10 years of laboratory experience in cancer biology and clinical molecular diagnostics. She is the Scientific Director of Molecular Diagnostics and Serology at Sentara Healthcare. Dr. Sundin serves as a Speaker for AstraZeneca and Bristol-Myers Squibb covering multidisciplinary facilitation of biomarker testing in cancer patients. She is also an active member of the Association of Molecular Pathology (AMP) and involved with numerous efforts to support the molecular diagnostics field with American Medical Technologists (AMT) and Clinical & Laboratory Standards Institute (CLSI).

Reviewer information: Timothy Walls, M.D., M.S., is an AP/CP boarded pathologist. He has completed fellowships in medical microbiology as well as molecular genetic pathology. Currently he is the Director of Clinical Laboratories at Sentara Reference Laboratories. Timothy has earned his B.S. in Biochemistry, Cellular and Molecular Biology at the University of Tennessee, his M.S. in Forensic Science at Drexel University and his M.D. from the University of Tennessee Health Science Center.

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DNA transcription
Cancer stem cells model
Inheritance of a germline mutation
Two hit malignant transformation with chromosome loss
The first 4 cycles of PCR
Sanger Sequencing produces an <br /> electropherogram (right) that <br /> correlates with the DNA sequence