Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution
作者： Sohrab P Shah , Ryan D Morin , Jaswinder Khattra , Leah Prentice , Trevor Pugh
DOI: 10.1038/NATURE08489
关键词: Breast disease 、 DNA sequencing 、 Gene 、 Breast cancer 、 Cancer 、 Biology 、 DNA Mutational Analysis 、 Metastasis 、 Genetics 、 Mutation
摘要: Recent advances in next generation sequencing have made it possible to precisely characterize all somatic coding mutations that occur during the development and progression of individual cancers. Here we used these approaches sequence genomes (>43-fold coverage) transcriptomes an oestrogen-receptor-alpha-positive metastatic lobular breast cancer at depth. We found 32 non-synonymous present metastasis, measured frequency DNA from primary tumour same patient, which arose 9 years earlier. Five (in ABCB11, HAUS3, SLC24A4, SNX4 PALB2) were prevalent removed diagnosis earlier, six KIF1C, USP28, MYH8, MORC1, KIAA1468 RNASEH2A) lower frequencies (1-13%), 19 not detected tumour, two undetermined. The combined analysis genome transcriptome data revealed new RNA-editing events recode amino acid SRP9 COG3. Taken together, our show single nucleotide mutational heterogeneity can be a property low or intermediate grade cancers significant evolution with disease progression.
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