Journal article

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors

Georgina L Ryland, Sally M Hunter, Maria A Doyle, Franco Caramia, Jason Li, Simone M Rowley, Michael Christie, Prue E Allan, Andrew N Stephens, David DL Bowtell, Ian G Campbell, Kylie L Gorringe

GENOME MEDICINE | BMC | Published : 2015


BACKGROUND: Mucinous ovarian tumors are an unusual group of rare neoplasms with an apparently clear progression from benign to borderline to carcinoma, yet with a controversial cell of origin in the ovarian surface epithelium. They are thought to be molecularly distinct from other ovarian tumors but there have been no exome-level sequencing studies performed to date. METHODS: To understand the genetic etiology of mucinous ovarian tumors and assess the presence of novel therapeutic targets or pathways, we undertook exome sequencing of 24 tumors encompassing benign (5), borderline (8) and carcinoma (11) histologies and also assessed a validation cohort of 58 tumors for specific gene regions in..

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Awarded by National Health and Medical Research Council of Australia

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

Funding Acknowledgements

The authors gratefully acknowledge the cooperation of the institutions in Australia participating in the Australian Ovarian Cancer Study (AOCS). We also acknowledge the contribution of the AOCS study nurses, research assistants, and all clinical and scientific collaborators and would like to thank all of the women who participated in AOCS. Members of the Australian Ovarian Cancer Study Group, collaborators and hospitals involved in AOCS can be found at The authors also thank A/Prof Thomas W Jobling (Department of Obstetrics and Gynaecology, Monash Medical Centre, Clayton) and the Ovarian Cancer Research Foundation ( for supporting the collection of patient samples and information used in this study. This study was supported by the Victorian Breast Cancer Research Consortium (VBCRC), the National Health and Medical Research Council of Australia (ID 628630) and The Emer Casey Foundation. The Australian Ovarian Cancer Study is supported by the U.S. Army Medical Research and Materiel Command under DAMD17-01-1-0729, The Cancer Council Tasmania and The Cancer Foundation of Western Australia and the National Health and Medical Research Council of Australia (ID 400413). ANS is supported by a grant from the Ovarian Cancer Research Foundation.