The genetics of cancer - cancer predisposition (aanleg)

6 important questions on The genetics of cancer - cancer predisposition (aanleg)

Where are twin studeis used for...?

If cancer develops in different enviroments

What is a cancer predisposition gene?

Being born with inherited faulty genes doesn't mean that a person will definitely get cancer. But they have a higher risk of developing particular types of cancer than other people. They are also more likely to develop cancer at a younger age.
  • most of them are oncogenes, byt can be tumor suppressors

Indications for cancer predisposition?

  • Family history of cancer
  • early age at diagnosis
  • multiple tumors
  • shared cancer-related phenotypes
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De type cancer predisposition genes? (3)

  • Genes involved in cell cycle regulation
  • genes directly involved in tumorigenic process (cancer-related pathways)
  • genes that affect genomic integrity
    • DNA repair
    • mitotic checkpoints

Why are recessive syndromes less frequent, but often time more server?

  • Recessive disease mutations are much more common than those that are harmful even in a single copy, because such "dominant" mutations are more easily eliminated by natural selection.
  • disease-causing recessive alleles remian in populations because healthy hetrozygotes pass them to future generations

How do we recognize patients with cancer? (3)

  1. Clinical characteristics
  2. gene mutation
  3. tumor characteristics
    1. subtype specification
    2. second hit mutations
    3. mutational signatures

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