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EGAS00001000603-sc-20140423 - samples

ABSTRACT: This study aims to define the landscape of somatic mutations in sun exposed human skin by deep sequencing, analyse their frequency and use the data to infer the effect of mutations on proliferating cell behaviour. The frequency of each mutation will reflect the size of the clone of cells in the tissue sample. By analyzing small samples, clones with as few as 100 cells will be detectable. Allele frequency distributions for each mutation will be used to infer cell fate using published methods (Klein et al. 2010). This study will shed unprecedented light on the early clonal events that lead to the emergence of cancer.

PROVIDER: EGAD00001000825 | EGA |

REPOSITORIES: EGA

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

Martincorena Iñigo I Roshan Amit A Gerstung Moritz M Ellis Peter P Van Loo Peter P McLaren Stuart S Wedge David C DC Fullam Anthony A Alexandrov Ludmil B LB Tubio Jose M JM Stebbings Lucy L Menzies Andrew A Widaa Sara S Stratton Michael R MR Jones Philip H PH Campbell Peter J PJ

Science (New York, N.Y.) 20150501 6237

How somatic mutations accumulate in normal cells is central to understanding cancer development but is poorly understood. We performed ultradeep sequencing of 74 cancer genes in small (0.8 to 4.7 square millimeters) biopsies of normal skin. Across 234 biopsies of sun-exposed eyelid epidermis from four individuals, the burden of somatic mutations averaged two to six mutations per megabase per cell, similar to that seen in many cancers, and exhibited characteristic signatures of exposure to ultrav ...[more]

PMID: 25999502

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