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Mutation: Somatic Mutation, Cancer, and Aging

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Human Genetics

Abstract

Mutations may also occur in somatic cells. The effect of a somatic mutation is found in the descendants of the mutant cell, making the individual a mosaic. Mosaics are individuals with a mixed cell population. In the simplest situation a normal cell population and a mutant cell population may coexist in a single individual. Often such different populations exist side by side. In fibroblasts — and possibly in other cell types — there is extensive mixing of genetically different cell groups since very small cell patches may be shown to exhibit different cell markers, such as different G6PD types.

“The essential hypothesis as already formulated by von Hansenmann” (1890) is:

“The cell of the malignant tumor is a cell with a certain abnormal chromatin content.”

“The way in which it originates [has] no significance. Each process which brings

about this chromatin constitution would result in the origin of a malignant tumor.”

(T. Boveri 1914, translated by U. Wolf 1974 [19])

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Vogel, F., Motulsky, A.G. (1997). Mutation: Somatic Mutation, Cancer, and Aging. In: Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03356-2_11

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  • DOI: https://doi.org/10.1007/978-3-662-03356-2_11

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