Bonus lesson: Course background material, glossary and links.

Great that you have mastered this course!
Our experts have added some bonus material if you would like to deepen your knowledge further.
Read on and visit the links below to find out more about Oncology Genetics.

Bonus material:

Short insight in the Human Genome Project.

Links to bonus course material.


Key terms help you in understanding clinical encounters and are provided for reference in a glossary that covers the specific vocabulary relevant to the clinical linkage.
Below are the key terms from this clinical linkage, listed alphabetically.
A complete glossary of all terms can be found under the ‘references’ heading on the home page.

  • Allele. Refers to a variant form of a gene, ranging from an SNP to ranges of more than 1000 base pairs being different.
  • Biologics. Drugs, these are >900 Da, administered by injection or infusion, and have extracellular targets.
  • CDKs. Cyclin-dependent kinases (CDKs) are a family of protein kinases, that have a regulatory function in the cell cycle. A CDK binds a regulatory protein called a cyclin.
  • Cyclins. Regulatory proteins that bind with a CDK, to play a regulatory role in the cell cycle.
  • DNA sequencing. Determining the sequential order of nucleotides in DNA.
  • Drivers. Mutations in oncogenes rendering them constitutively active, central control points for progression of malignancies.
  • Genetics. Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.
  • GenomeThe genome is the total genetic information of humans.
  • Genomics. The study and understanding of the genome.
  • Germline mutations. Any detectable variation within germ cells. Mutations in these cells are the only mutations that can be inherited. Can be caused by endogenous and exogenous factors. These are involved in 5 – 10% of cancers.
  • Histological. Concerning the structure, especially the microscopic structure, of organic tissues.
  • Histone. A protein that provides structural support to a chromosome. In order for very long DNA molecules to fit into the cell nucleus, they wrap around complexes of histone proteins, giving the chromosome a more compact shape. Some variants of histones are associated with the regulation of gene expression.
  • Liquid biopsy. A test done on a sample of blood to look for cancer cells from a tumor that are circulating in the blood or for pieces of DNA from tumor cells that are in the blood. A liquid biopsy may be used to help find cancer at an early stage. It may also be used to help plan treatment or to find out how well treatment is working or if cancer has come back. Being able to take multiple samples of blood over time may also help doctors understand what kind of molecular changes are taking place in a tumor.
  • Microsatellite instability. MSI is the condition of genetic hypermutability (predisposition to mutation) that results from impaired DNA mismatch repair (MMR). The presence of MSI represents phenotypic evidence that MMR is not functioning normally.
  • Monoclonal. Monoclonal antibodies bind only to one specific antigen, making it a very specific tool for identifying certain types of health conditions.
  • Mutations. Mutations play an important role in the development of cancer. They cause a cell to make (or not make) proteins that affect how the cell grows and divides into new cells.
  • NGS, Next Generation Sequencing. NGS technology is a massively parallel sequencing technology, with the aid of computer technologies, to identify complex DNA sequences in one laboratory set up, without the need of performing separated steps in the process.
  • Phenotypic. The composite observable characteristics or traits of an organism.
  • Precision oncology or genomics. It is defined as the molecular profiling of tumors to identify targetable alterations.
  • Proteins. Proteins are large and complex molecules, made up of thousands of smaller units, amino acids. They are required for the structure, function, and regulation of the body’s tissues and organs.
  • Secondary findings. Genetic test results that provide information about changes (variants) in a gene unrelated to the primary purpose for the testing.
  • Small molecule drugs. These are <900 Da, can be orally administered and have extracellular or intracellular targets.
  • Somatic mutations. A genetic change that occurs in a single body cell and cannot be inherited.
  • Variant. Alteration of a DNA sequence as compared to the reference sequence that may or may not be associated with a disease state.

Links to sources of video’s and images, used in this course:

  • 1. Video, Precision Oncology from a patients point of view. Source: Henry Ford TV, Youtube.
  • 1.2 Video, How Precision Oncology is making strides in the fight against cancer. Source: Great Big Story, Youtube.
  • 2.2 Image, Companion Diagnostics. Source:
  • 2.3 Image, Passenger and driver mutations. Source:
  • 2.3 Link to video, Driver and passenger mutation in cancer. Source: Serious Science, Youtube.
  • 3. Image Mendel’s study of peas. Source The human Origin Project.
  • 3.1 Image, Cost per raw megabase of DNA sequence. Source: NIH.
  • 4.2 Image New paradigm shift in treatment. Source:
  • Bonus lesson. Video, Short insight in the Human Genome Project. Source: KnightBio.
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