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Somatic Mutation

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somatic mutation [sō¦mad·ik myü′tā·shən]
(genetics)
A genetic change limited to a somatic cell lineage; a major cause of cancer in humans.

Mutation, Somatic 

a mutation that occurs in a somatic cell and provides the basis for a mosaic condition, that is, the formation of certain body parts, tissues, or cells having a unique set of chromosomes or genes.

All the types of somatic mutations that occur in sexual cells may occur in the cells of a developing organism. These mutations include (1) an increase in the chromosome set as a whole after normal chromosomal division without the subsequent division of the nucleus and cell, (2) trisomy and monosomy of various chromosomes as a result of the migration of two daughter chromosomes to a single pole (instead of different poles), and (3) the loss of a chromosome in one of the daughter cells during division as a result of its entrapment in the zone of the equatorial plate.

Inversions, deletions, and translocations of chromosomal fragments and mutations of individual genes occur with varying frequency in somatic cells. The earlier a somatic mutation occurs in an organism’s development, the greater the number of cells that will inherit the mutation, provided that the mutation does not destroy the carrier cell and that the rate of the carrier cell’s proliferation does not decrease. Gene somatic mutations are manifested relatively rarely, because in the overwhelming majority of cases the function of the mutant gene or of the separated chromosomal fragment is compensated for by the presence of a normal homologous gene or a normal area in the homologous matching chromosome of a mutant chromosome. The manifestation of certain somatic mutations is suppressed by the proximity of normal tissue.

Somatic mutations may not be manifested when the corresponding part of a chromosome of the given tissue is inactive. In the early 1960’s it was established that somatic mutations play an important role in the pathogenesis of the abnormal development of the sexual system, in the causation of spontaneous abortions and congenital deformities, and in carcinogenesis.

In plants, cells that carry somatic mutations may be propagated vegetatively or when the mutant area forms flowers.

REFERENCE

Vakhtin, Iu. B. Genetika somaticheskikh kletok. Moscow, 1974.

V. P. EFROIMSON



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The computational method is called CHASM, short for Cancer-specific High-throughput Annotation of Somatic Mutations.
Another theory, the somatic mutation theory, suggests that the ageing process is a consequence of damage to the body's genetic integrity.
The recent identification of activating somatic mutations in the EGFR gene, especially in lung adenocarcinomas arising in nonsmokers, and their proposed relevance in predicting EGFR response to tyrosine kinase inhibitors have had a significant impact in lung cancer treatment, exemplifying the clinical effect when changes that underlie tumor development are understood.
 
 
 
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