Medical genetics and cancer - Genetic basis of cancer

17 important questions on Medical genetics and cancer - Genetic basis of cancer

What are the different steps of cancer progression?

  1. Cancer originates in a single cell.
  2. Because of cell division, more cells get the series of genetic changes. This is called cloning.
  3. The first growing step is benign growth.
  4. The next step is malignant growth.
  5. Finally invasion starts, this is when the surrounding tissue and bloodstream also get 'infected'.

What does 'cancer cells are metastatic' mean?

Metastatic means that the cells can migrate to other parts of the body and cause secondary tumors.

What is a carcinogen? Give an example.

A carcinogen is an environmental agent that causes cancer.
UV light and certain chemicals.
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How do oncogenes get into our bodies?

  • Some oncogenes are carried in viruses.
  • Most oncogenes are derived rom normal cellular genes that have been altered by mutation or epigenetic changes.

What is a proto-oncogene?

A proto-oncogene is a normal, nonmutated gene that has the potential to  become an oncogene.

What are the three possible effects when a gain-of-function mutation produces an oncogene?

  1. The amount of the encoded protein is greatly increased.
  2. A change occurs in the structure of the encoded protein that causes it to be overly active.
  3. The encoded protein is expressed in a cell type where it is not normally expressed.

What are growth factors?

Growth factors are signaling molecules that bind to cell surface receptors and initiate a cascade of cellular events that lead to cell division.

How would a mutation that prevents the Ras protein from hydrolyzing GTP affect a cell-signaling pathway?

Such a mutation would keep the RAS protein in an active state and thereby promote cancerous growth. The cell-signaling pathway would be turned on permanently.

What are the four main ways that a proto-oncogene can convert into an oncogene?

  • Missense mutation
  • Gene amplification (increase in copy number)
  • Chromosomal translocation
  • Viral integration

Why does this translocation cause leukemia rather than cancer in a different tissue type, such as the lung?

The bcr gene is expressed in white blood cells. This translocation causes the abl gene to be under the control of the bcr promoter. The abnormal expression of abl in white blood cells causes leukemia.

If a cell cannot make any Rb protein, how will this affect the function of E2F?

E2F will be active all the time, which will lead to cancer.

What are the two function groups of tumor-suppressor genes?

  • Negative regulators of cell division
  • Maintenance of genome integrity

What is genome maintenance?

Genome maintenance refers to cellular mechanisms that prevent mutations from occurring and/or prevent mutant cells from surviving or dividing.

What is a checkpoint?

A checkpoint is a point in the cell cycle in which proteins determine if the cell is in the proper condition to divide. If an abnormality such as DNA damage is detected, the checkpoint proteins will halt the cell cycle.

How can tumor-suppressor genes be silenced?

  • A mutation
  • Epigenetic changes
  • Aneuploidy (loss or addition of one or more chromosomes)

What is loss of heterozygosity (LOH)?

Loss of heterozygosity (LOH) is the loss of function of a normal allele when the other allele was already inactivated.

Explain why familial breast cancer shows a dominant pattern of inheritance in a pedigree even though it is recessive at the cellular level.

An individual with a predisposition for familial breast cancer inherits only one copy of the mutant allele. Therefore, the disease shows a dominant pattern of inheritance. However, for the individual to actually get breast cancer, the other allele must become mutant in somatic cells.

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