MUTATION

Mutation refers to the alteration of a gene (DNA), which can affect its normal functioning. In some cases, mutations involve nucleotides, which are the constituent elements of genes. These mutations include:

• Deletions: loss of one or more nucleotides;
• Insertions: addition of one or more nucleotides in the normal gene sequence;
• Point mutation: substitution of one or more nucleotides.

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

• Amplifications: increase in the number of copies of a gene;
• Translocations: exchange of places between genes;
• Deletion: loss of a part or the entire chromosome.

Genetic mutations can be inherited (passed from parents to children), in which case they are known as germline mutations. Genetic mutations can also be acquired during life, in which case they are called somatic mutations. Somatic mutations can result from the action of different agents, including:

• Viruses;
• Ionizing radiation;
• Chemicals.

The results of genetic mutations can be diverse. In some cases, there may be no significant consequences. In other cases, mutations can lead to the development of diseases, including serious diseases such as cancer. Finally, there are mutations that are incompatible with life, leading to the individual’s death.

In case of an existing tumor or suspicion, genetic testing is performed to prevent the development of certain types of cancer or to assist in the best treatment based on the diagnosis.