Journal article
Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance
JM Saunus, MCJ Quinn, AM Patch, JV Pearson, PJ Bailey, K Nones, AE McCart Reed, D Miller, PJ Wilson, F Al-Ejeh, M Mariasegaram, Q Lau, T Withers, RL Jeffree, LE Reid, L Da Silva, A Matsika, CM Niland, MC Cummings, TJC Bruxner Show all
Journal of Pathology | Published : 2015
DOI: 10.1002/path.4583
Abstract
Treatment options for patients with brain metastases (BMs) have limited efficacy and the mortality rate is virtually 100%. Targeted therapy is critically under-utilized, and our understanding of mechanisms underpinning metastatic outgrowth in the brain is limited. To address these deficiencies, we investigated the genomic and transcriptomic landscapes of 36 BMs from breast, lung, melanoma and oesophageal cancers, using DNA copy-number analysis and exome- and RNA-sequencing. The key findings were as follows. (a) Identification of novel candidates with possible roles in BM development, including the significantly mutated genes DSC2, ST7, PIK3R1 and SMC5, and the DNA repair, ERBB-HER signalling..
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Grants
Awarded by Australian National Health and Medical Research Council
Funding Acknowledgements
This study was supported by funding from the Australian National Health and Medical Research Council (Grant No. APP1030751) and the National Breast Cancer Foundation, Australia (a fellowship to PTS). We would like to thank D Gwynne for central coordination at the Queensland Centre for Medical Genomics and Professor Sir Mike Stratton for his support in attracting funding for this study. We wish to thank the Wesley-St. Andrew's Research Institute Tissue Bank, as well as Heather Thorne, Eveline Niedermayr and all the kConFab research nurses and staff, and the many families who contribute to kConFab. We would also like to acknowledge the Brisbane Breast Bank for coordinating sample collection, archiving and data management, as well as all the patients who donated tissue for this study.