Mutation corresponds to changes to a gene, possibly affecting its normal behavior. In some cases, mutations involve nucleotides, the key elements genes are made of. These mutations include:

  • Deletion: loss of one or more nucleotides;
  • Insertion: addition of one or more nucleotides in a gene’s normal sequence;
  • One-off mutation: substitution of one or more nucleotides.

In other cases, mutations can involve sections of a chromosome, affecting one or more genes. These mutations include:

  • Amplification: increase in the number of copies of a given gene;
  • Translocation: different genes switching places;
  • Deletion: partial or complete loss of a chromosome.

Genetic mutations might be hereditary (transmitted from parents to children), in which case they’re known as germinal. Genetic mutations can also be acquired throughout life, in which case they’re named somatic mutations. Somatic mutations can result from several different triggers, including:

  • Viruses;
  • Ionizing radiation;
  • Chemical substances.

Genetic mutations can have varied results. In some cases, there might not be any significant consequence. In others, mutations can kickstart illnesses, including severe ones like cancer. And at last, there’s also mutations that are incompatible with life, leading to death.

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This content is part of the Oncoclínicas glossary with all terms related to Oncology and its treatments.
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