Published in

American Association for the Advancement of Science, Science, 6237(348), p. 880-886, 2015

DOI: 10.1126/science.aaa6806

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High burden and pervasive positive selection of somatic mutations in normal human skin

This paper is available in a repository.
This paper is available in a repository.

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Abstract

Normal skin's curiously abnormal genome Within every tumor, a battle is being waged. As individual tumor cells acquire new mutations that promote their survival and growth, they clonally expand at the expense of tumor cells that are “less fit.” Martincorena et al. sequenced 234 biopsies of sun-exposed but physiologically normal skin from four individuals (see the Perspective by Brash). They found a surprisingly high burden of mutations, higher than that of many tumors. Many of the mutations known to drive the growth of cutaneous squamous cell carcinomas were already under strong positive selection. More than a quarter of normal skin cells carried a driver mutation, and every square centimeter of skin contained hundreds of competing mutant clones. Science , this issue p. 880 ; see also p. 867