Genome evolution during progression to breast cancer
作者： D. E. Newburger , D. Kashef-Haghighi , Z. Weng , R. Salari , R. T. Sweeney
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摘要: Cancer evolution involves cycles of genomic damage, epigenetic deregulation, and increased cellular proliferation that eventually culminate in the carcinoma phenotype. Early neoplasias, which are often found concurrently with carcinomas histologically distinguishable from normal breast tissue, less advanced phenotype than thought to represent precursor stages. To elucidate their role cancer we performed comparative whole-genome sequencing early matched six patients, for a total 31 samples. By using somatic mutations as lineage markers built trees relate tissue samples within each patient. On basis these inferred order, timing, rates events. In four out cases, an neoplasia share mutated common ancestor recurring aneuploidies, all cases accelerated lineage. Transition spectra stable consistent across suggesting accumulation is result ancestral cell division rather specific mutational mechanisms. contrast highly tumors focus much current genome sequencing, neither genomes nor enriched potentially functional point mutations. Aneuploidies occur ancestors neoplastic tumor cells earliest events affect large number genes may predispose eventual development invasive carcinoma.
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