Integrated genomic analyses of ovarian carcinoma

作者:

DOI: 10.1038/NATURE10166

关键词: Serous fluidmicroRNAOvarian carcinomaGeneticsDNA methylationOvarian cancerCancer researchBiologySerous carcinomaGenePARP inhibitor

摘要: A catalogue of molecular aberrations that cause ovarian cancer is critical for developing and deploying therapies will improve patients' lives. The Cancer Genome Atlas project has analysed messenger RNA expression, microRNA promoter methylation DNA copy number in 489 high-grade serous adenocarcinomas the sequences exons from coding genes 316 these tumours. Here we report characterized by TP53 mutations almost all tumours (96%); low prevalence but statistically recurrent somatic nine further including NF1, BRCA1, BRCA2, RB1 CDK12; 113 significant focal aberrations; events involving 168 genes. Analyses delineated four transcriptional subtypes, three subtypes a signature associated with survival duration, shed new light on impact BRCA1/2 (BRCA1 or BRCA2) CCNE1 have survival. Pathway analyses suggested homologous recombination defective about half analysed, NOTCH FOXM1 signalling are involved pathophysiology.

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