Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations

J George; K Alsop; D Etemadmoghadam; H Hondow; T Mikeska; A Dobrovic; A DeFazio; GK Smyth; DA Levine; G Mitchell; DD Bowtell

Journal article

Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations

J George, K Alsop, D Etemadmoghadam, H Hondow, T Mikeska, A Dobrovic, A DeFazio, GK Smyth, DA Levine, G Mitchell, DD Bowtell

Clinical Cancer Research | AMER ASSOC CANCER RESEARCH | Published : 2013

DOI: 10.1158/1078-0432.CCR-13-0066

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Abstract

Purpose: High-grade serous carcinoma (HGSC) accounts for the majority of epithelial ovarian cancer deaths. Genomic and functional data suggest that approximately half of unselected HGSC have disruption of the BRCA pathway and defects in homologous recombination repair (HRR). Pathway disruption is regarded as imparting a BRCAness phenotype. We explored the molecular changes in HGSC arising in association with specific BRCA1 /BRCA2 somatic or germline mutations and in those with BRCA1 DNA promoter methylation. Experimental Design: We describe gene expression and copy number analysis of two large cohorts of HGSC in which both germline and somatic inactivation of HRR has been measured. Results: ..

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University of Melbourne Researchers

Gordon Smyth Author

David Bowtell Author

Kathryn Alsop Author

Related Projects (2)

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AUSTRALIAN OVARIAN CANCER STUDY (AOCS): A MULTIDISCIPLINARY OVARIAN CANCER RESOURCE FOR THE GENOMICS ERA

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Grants

Awarded by Ovarian Cancer Research Program of the U.S. Department of Defense

Awarded by National Breast Cancer Foundation

Awarded by U.S. Army Medical Research and Materiel Command

Awarded by National Health and Medical Research Council of Australia (NHMRC)

Funding Acknowledgements

This study was supported by the Ovarian Cancer Research Program of the U.S. Department of Defense (W81XWH-08-1-0684 and W81XWH-08-1-0685); Cancer Australia and the National Breast Cancer Foundation (ID509303, CG-08-07, ID509366); the Peter MacCallum Cancer Centre Foundation and the Cancer Council Victoria. AOCS was supported by the U.S. Army Medical Research and Materiel Command under DAMD17-01-1-0729, The Cancer Council Victoria, Queensland Cancer Fund, The Cancer Council New South Wales, The Cancer Council South Australia, The Cancer Foundation of Western Australia, The Cancer Council Tasmania and the National Health and Medical Research Council of Australia (NHMRC; ID400413, ID400281).