Study

The patterns and dynamics of genomic instability in metastatic pancreatic cancer

Study ID Alternative Stable ID Type
EGAS00000000064 Whole Genome Sequencing

Study Description

Pancreatic cancer is an aggressive malignancy with a five-year mortality of 97–98%, usually due to widespread metastatic disease. Previous studies indicate that this disease has a complex genomic landscape, with frequent copy number changes and point mutations, but genomic rearrangements have not been characterized in detail. Despite the clinical importance of metastasis, there remain fundamental questions about the clonal structures of metastatic tumours, including phylogenetic relationships among metastases, the scale of ongoing parallel evolution in metastatic and primary sites, and how the tumour disseminates. Here we harness advances in DNA sequencing to annotate genomic rearrangements in 13 patients with pancreatic cancer and explore clonal relationships among metastases. We find that pancreatic cancer acquires rearrangements indicative of telomere dysfunction and abnormal cell-cycle control, namely dysregulated G1-to-S-phase transition with intact G2–M checkpoint. These initiate amplification of cancer genes and occur predominantly in early cancer development ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00000000052
Sequencing data from natching Pancreatic Carcinoma samples
Illumina Genome Analyzer II 25

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