A comprehensive catalogue of somatic mutations from a human cancer genome by Pleasance Erin D, Cheetham R Keira, Stephens Philip J, McBride David J, Humphray Sean J, Greenman Chris D, Varela Ignacio, Lin Meng-Lay, Ordóñez Gonzalo R, Bignell Graham R, Ye Kai, Alipaz Julie, Bauer Markus J, Beare David, Butler Adam, Carter Richard J, Chen Lina, Cox Anthony J, Edkins Sarah, Kokko-Gonzales Paula I, Gormley Niall A, Grocock Russell J, Haudenschild Christian D, Hims Matthew M, James Terena, Jia Mingming, Kingsbury Zoya, Leroy Catherine, Marshall John, Menzies Andrew, Mudie Laura J, Ning Zemin, Royce Tom, Schulz-Trieglaff Ole B, Spiridou Anastassia, Stebbings Lucy A, Szajkowski Lukasz, Teague Jon, Williamson David, Chin Lynda, Ross Mark T, Campbell Peter J, Bentley David R, Futreal P Andrew, Stratton Michael R in Nature (2010).

[PMID: 20016485] PubMed


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.

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