A comprehensive catalogue of somatic mutations from a human cancer genome.
Nature
; 463(7278): 191-6, 2010 Jan 14.
Article
en En
| MEDLINE
| ID: mdl-20016485
ABSTRACT
All cancers carry somatic mutations. A subset of these somatic alterations, termed driver mutations, confer selective growth advantage and are implicated in cancer development, whereas the remainder are passengers. Here we have sequenced the genomes of a malignant melanoma and a lymphoblastoid cell line from the same person, providing the first comprehensive catalogue of somatic mutations from an individual cancer. The catalogue provides remarkable insights into the forces that have shaped this cancer genome. The dominant mutational signature reflects DNA damage due to ultraviolet light exposure, a known risk factor for malignant melanoma, whereas the uneven distribution of mutations across the genome, with a lower prevalence in gene footprints, indicates that DNA repair has been preferentially deployed towards transcribed regions. The results illustrate the power of a cancer genome sequence to reveal traces of the DNA damage, repair, mutation and selection processes that were operative years before the cancer became symptomatic.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Genoma Humano
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Genes Relacionados con las Neoplasias
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Mutación
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Neoplasias
Tipo de estudio:
Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Idioma:
En
Revista:
Nature
Año:
2010
Tipo del documento:
Article