AUSTRALIAN OVARIAN CANCER STUDY (AOCS): A MULTIDISCIPLINARY OVARIAN CANCER RESOURCE FOR THE GENOMICS ERA
Grant number: 400413 | Funding period: 2006 - 2013
Ovarian cancer is relatively uncommon and is histologically very diverse, making it difficult to analyse ovarian cancer at a molecular level, to identify genetic risk factors, or to understand the interaction of genes and environment. Recognizing that a large collaborative study was the only way to achieve sufficient power to address major translational questions in ovarian cancer, the Australian Ovarian Cancer Study was established and is now the largest study of its kind in the world. This proposal aims to maintain and add value to this unique resource for ovarian cancer research.
Related publications (81)
Acquired RAD51C Promoter Methylation Loss Causes PARP Inhibitor Resistance in High-Grade Serous Ovarian Carcinoma
Ksenija Nesic, Olga Kondrashova, Rachel M Hurley, Cordelia D McGehee, Cassandra J Vandenberg, Gwo-Yaw Ho, Elizabeth Lieschke, Genevieve Dall, Nirashaa Bound, Kristy Shield-Artin, Marc Radke, Ashan Musafer, Zi Qing Chai, Mohammad Reza Eftekhariyan Ghamsari, Maria Harrell, Damien Kee, Inger Olesen, Orla McNally, Nadia Traficante, Anna DeFazio
In high-grade serous ovarian carcinoma (HGSC), deleterious mutations in DNA repair gene RAD51C are established drivers of defectiv..
Noncanonical IL6 Signaling-Mediated Activation of YAP Regulates Cell Migration and Invasion in Ovarian Clear Cell Cancer
Walid J Azar, Elizabeth L Christie, Chris Mitchell, David S Liu, George Au-Yeung, David DL Bowtell
Ovarian clear cell adenocarcinoma (OCCA) is characterized by a particularly poor response to conventional chemotherapy and a short..
Genomic analysis of low-grade serous ovarian carcinoma to identify key drivers and therapeutic vulnerabilities
Dane Cheasley, Abhimanyu Nigam, Magnus Zethoven, Sally Hunter, Dariush Etemadmoghadam, Timothy Semple, Prue Allan, Mark S Carey, Marta L Fernandez, Amy Dawson, Martin Kobel, David G Huntsman, Cecile Le Page, Anne-Marie Mes-Masson, Diane Provencher, Neville Hacker, Yunkai Gao, David Bowtell, Anna deFazio, Kylie L Gorringe
Low-grade serous ovarian carcinoma (LGSOC) is associated with a poor response to existing chemotherapy, highlighting the need to p..
Development and Validation of the Gene Expression Predictor of High-grade Serous Ovarian Carcinoma Molecular SubTYPE (PrOTYPE)
Aline Talhouk, Joshy George, Chen Wang, Timothy Budden, Tuan Zea Tan, Derek S Chiu, Stefan Kommoss, Huei San Leong, Stephanie Chen, Maria P Intermaggio, Blake Gilks, Tayyebeh M Nazeran, Mila Volchek, Wafaa Elatre, Rex C Bentley, Janine Senz, Amy Lum, Veronica Chow, Hanwei Sudderuddin, Robertson Mackenzie
PURPOSE: Gene expression-based molecular subtypes of high-grade serous tubo-ovarian cancer (HGSOC), demonstrated across multiple s..
Menopausal hormone therapy prior to the diagnosis of ovarian cancer is associated with improved survival
Katharine K Brieger, Siri Peterson, Alice W Lee, Bhramar Mukherjee, Kelly M Bakulski, Aliya Alimujiang, Hoda Anton-Culver, Michael S Anglesio, Elisa Bandera, Andrew Berchuck, David DL Bowtell, Georgia Chenevix-Trench, Kathleen R Cho, Daniel W Cramer, Anna DeFazio, Jennifer A Doherty, Renee T Fortner, Dale W Garsed, Simon A Gayther, Aleksandra Gentry-Maharaj
PURPOSE: Prior studies of menopausal hormone therapy (MHT) and ovarian cancer survival have been limited by lack of hormone regime..
Prognostic gene expression signature for high-grade serous ovarian cancer
J Millstein, T Budden, EL Goode, MS Anglesio, A Talhouk, MP Intermaggio, HS Leong, S Chen, W Elatre, B Gilks, T Nazeran, M Volchek, RC Bentley, C Wang, DS Chiu, S Kommoss, SCY Leung, J Senz, A Lum, V Chow
BACKGROUND: Median overall survival (OS) for women with high-grade serous ovarian cancer (HGSOC) is ∼4 years, yet survival varies ..
Signal Transduction Pathway Activity in High-Grade, Serous Ovarian Carcinoma Reveals a More Favorable Prognosis in Tumors with Low PI3K and High NF-kappa B Pathway Activity: A Novel Approach to a Long-Standing Enigma
Laura van Lieshout, Anja van de Stolpe, Phyllis van der Ploeg, David Bowtell, Joanne de Hullu, Jurgen Piek
We investigated signal transduction pathway (STP) activity in high-grade serous ovarian carcinoma (HGSC) in relation to progressio..
ABCC4/MRP4 contributes to the aggressiveness of Myc-associated epithelial ovarian cancer
Moonsun Jung, Jixuan Gao, Leanna Cheung, Angelika Bongers, Klaartje Somers, Molly Clifton, Emma E Ramsay, Amanda J Russell, Emanuele Valli, Andrew J Gifford, Joshy George, Catherine J Kennedy, Matthew J Wakefield, Monique Topp, Gwo-Yaw Ho, Clare L Scott, David D Bowtell, Anna deFazio, Murray D Norris, Michelle Haber
Epithelial ovarian cancer (EOC) is a complex disease comprising discrete histological and molecular subtypes, for which survival r..
Therapeutic options for mucinous ovarian carcinoma
Kylie L Gorringe, Dane Cheasley, Matthew J Wakefield, Georgina L Ryland, Prue E Allan, Kathryn Alsop, Kaushalya C Amarasinghe, Sumitra Ananda, David DL Bowtell, Michael Christie, Yoke-Eng Chiew, Michael Churchman, Anna DeFazio, Sian Fereday, C Blake Gilks, Charlie Gourley, Alison M Hadley, Joy Hendley, Sally M Hunter, Scott H Kaufmann
OBJECTIVE: Mucinous ovarian carcinoma (MOC) is an uncommon ovarian cancer histotype that responds poorly to conventional chemother..
Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium
Pooja Middha Kapoor, Sara Lindstrom, Sabine Behrens, Xiaoliang Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Alison M Dunning, Paul DP Pharoah, Marjanka K Schmidt, Peter Kraft, Montserrat Garcia-Closas, Douglas F Easton, Roger L Milne, Jenny Chang-Claude
BACKGROUND: Previous gene-environment interaction studies of breast cancer risk have provided sparse evidence of interactions. Usi..
Survival Following Chemotherapy in Ovarian Clear Cell Carcinoma Is Not Associated with Pathological Misclassification of Tumor Histotype
Masataka Takenaka, Martin Kobel, Dale W Garsed, Sian Fereday, Ahwan Pandey, Dariush Etemadmoghadam, Joy Hendley, Ayako Kawabata, Daito Noguchi, Nozomu Yanaihara, Hiroyuki Takahashi, Takako Kiyokawa, Masahiro Ikegami, Hirokuni Takano, Seiji Isonishi, Kazuhiko Ochiai, Nadia Traficante, Sreeja Gadipally, Timothy Semple, Dane Vassiliadis
PURPOSE: Although ovarian clear cell carcinomas (OCCC) are commonly resistant to platinum-based chemotherapy, good clinical outcom..
Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE Study
Olga Kondrashova, Gwo-Yaw Ho, George Au-Yeung, Leakhena Leas, Tiffany Boughtwood, Kathryn Alsop, Giada Zapparoli, Alexander Dobrovic, Yi-An Ko, Arthur L Hsu, Clare J Love, Sebastian Lunke, Matthew J Wakefield, Orla McNally, Michael Quinn, Sumitra Ananda, Deborah Neesham, Anne Hamilton, Marisa Grossi, Alison Freimund
PURPOSE The ALLOCATE study was designed as a pilot to demonstrate the feasibility and clinical utility of real-time targeted molec..
A comprehensive gene-environment interaction analysis in Ovarian Cancer using genome-wide significant common variants
Sehee Kim, Miao Wang, Jonathan P Tyrer, Allan Jensen, Ashley Wiensch, Gang Liu, Alice W Lee, Roberta B Ness, Maxwell Salvatore, Shelley S Tworoger, Alice S Whittemore, Hoda Anton-Culver, Weiva Sieh, Sara H Olson, Andrew Berchuck, Ellen L Goode, Marc T Goodman, Jennifer Anne Doherty, Georgia Chenevix-Trench, Mary Anne Rossing
As a follow-up to genome-wide association analysis of common variants associated with ovarian carcinoma (cancer), our study consid..
Multiple ABCB1 transcriptional fusions in drug resistant high-grade serous ovarian and breast cancer
Elizabeth L Christie, Swetansu Pattnaik, Jessica Beach, Anthony Copeland, Nineveh Rashoo, Sian Fereday, Joy Hendley, Kathryn Alsop, Samuel L Brady, Greg Lamb, Ahwan Pandey, Anna deFazio, Heather Thorne, Andrea Bild, David DL Bowtell
ABCB1 encodes Multidrug Resistance protein (MDR1), an ATP-binding cassette member involved in the cellular efflux of chemotherapeu..
19q12 amplified and non-amplified subsets of high grade serous ovarian cancer with overexpression of cyclin E1 differ in their molecular drivers and clinical outcomes
Diar Aziz, Dariush Etemadmoghadam, C Elizabeth Caldon, George Au-Yeung, Niantao Deng, Ryan Hutchinson, David Bowtell, Paul Waring
OBJECTIVES: Readily apparent cyclin E1 expression occurs in 50% of HGSOC, but only half are linked to 19q12 locus amplification. T..
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Yingchang Lu, Alicia Beeghly-Fadiel, Lang Wu, Xingyi Guo, Bingshan Li, Joellen M Schildkraut, Hae Kyung Im, Yian A Chen, Jennifer B Permuth, Brett M Reid, Jamie K Teer, Kirsten B Moysich, Irene L Andrulis, Hoda Anton-Culver, Banu K Arun, Elisa V Bandera, Rosa B Barkardottir, Daniel R Barnes, Javier Benitez, Line Bjorge
Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer..
Response rates to second-line platinum-based therapy in ovarian cancer patients challenge the clinical definition of platinum resistance
Kristina Lindemann, Bo Gao, Cristina Mapagu, Sian Fereday, Catherine Emmanuel, Kathryn Alsop, Nadia Traficante, Paul R Harnett, David DL Bowtell, Anna deFazio
OBJECTIVE: The aim of this study was to compare response rates and survival in women with "platinum resistant" epithelial ovarian ..
Clinical Importance of Myc Family Oncogene Aberrations in Epithelial Ovarian Cancer
MoonSun Jung, Amanda J Russell, Catherine Kennedy, Andrew J Gifford, Kylie-Ann Mallitt, Siva Sivarajasingam, David D Bowtell, Anna DeFazio, Michelle Haber, Murray D Norris, Michelle J Henderson
Background: The Myc oncogene family has been implicated in many human malignancies and is often associated with particularly aggre..
Transducin-Like Enhancer of Split 3 (TLE3) Expression Is Associated with Taxane Sensitivity in Nonserous Ovarian Carcinoma in a Three-Cohort Study
Brian Z Ring, Rajmohan Murali, Robert A Soslow, David DL Bowtell, Sian Fereday, Anna Defazio, Nadia Traficante, Catherine J Kennedy, Alison Brand, Raghwa Sharma, Paul Harnett, Goli Samimi
Background: Chemoresistance is a major challenge in ovarian cancer treatment, resulting in poor survival rates. Identifying marker..
BRAF Mutations in Low-Grade Serous Ovarian Cancer and Response to BRAF Inhibition
Tania Moujaber, Dariush Etemadmoghadam, Catherine J Kennedy, Yoke-Eng Chiew, Rosemary L Balleine, Catherine Saunders, Gerard Wain, Bo Gao, Russell Hogg, Sivatharsny Srirangan, Casina Kan, Sian Fereday, Nadia Traficante, Ann-Marie Patch, John Pearson, Nicola Waddell, Sean M Grimmond, Alexander Dobrovic, David DL Bowtell, Paul R Harnett
Purpose Low-grade serous ovarian carcinoma (LGSC) responds poorly to chemotherapy and is characterized by activating mutations in ..
Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses
Jodie N Painter, Tracy A O'Mara, Andrew P Morris, Timothy HT Cheng, Maggie Gorman, Lynn Martin, Shirley Hodson, Angela Jones, Nicholas G Martin, Scott Gordon, Anjali K Henders, John Attia, Mark McEvoy, Elizabeth G Holliday, Rodney J Scott, Penelope M Webb, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Alexander Hein
Epidemiological, biological, and molecular data suggest links between endometriosis and endometrial cancer, with recent epidemiolo..
Homologous Recombination DNA Repair Pathway Disruption and Retinoblastoma Protein Loss Are Associated with Exceptional Survival in High-Grade Serous Ovarian Cancer
Dale W Garsed, Kathryn Alsop, Sian Fereday, Catherine Emmanuel, Catherine J Kennedy, Dariush Etemadmoghadam, Bo Gao, Val Gebski, Valerie Gares, Elizabeth L Christie, Maartje CA Wouters, Katy Milne, Joshy George, Ann-Marie Patch, Jason Li, Gisela Mir Arnau, Timothy Semple, Sreeja R Gadipally, Yoke-Eng Chiew, Joy Hendley
Purpose: Women with epithelial ovarian cancer generally have a poor prognosis; however, a subset of patients has an unexpected dra..
Dose-Response Association of CD8( ) Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer
Ellen L Goode, Matthew S Block, Kimberly R Kalli, Robert A Vierkant, Wenqian Chen, Zachary C Fogarty, Aleksandra Gentry-Maharaj, Aleksandra Toloczko, Alexander Hein, Aliecia L Bouligny, Allan Jensen, Ana Osorio, Andreas D Hartkopf, Andy Ryan, Anita Chudecka-Glaz, Anthony M Magliocco, Arndt Hartmann, Audrey Y Jung, Bo Gao, Brenda Y Hernandez
Importance: Cytotoxic CD8+ tumor-infiltrating lymphocytes (TILs) participate in immune control of epithelial ovarian cancer; howev..
Association analysis identifies 65 new breast cancer risk loci
Kyriaki Michailidou, Sara Lindstrom, Joe Dennis, Jonathan Beesley, Shirley Hui, Siddhartha Kar, Audrey Lemacon, Penny Soucy, Dylan Glubb, Asha Rostamianfar, Manjeet K Bolla, Qin Wang, Jonathan Tyrer, Ed Dicks, Andrew Lee, Zhaoming Wang, Jamie Allen, Renske Keeman, Ursula Eilber, Juliet D French
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-codin..
Elevation of TP53 Autoantibody Before CA125 in Preclinical Invasive Epithelial Ovarian Cancer
Wei-Lei Yang, Aleksandra Gentry-Maharaj, Archana Simmons, Andy Ryan, Evangelia Ourania Fourkala, Zhen Lu, Keith A Baggerly, Yang Zhao, Karen H Lu, David Bowtell, Ian Jacobs, Steven J Skates, Wei-Wu He, Usha Menon, Robert C Bast
Purpose: The TP53 tumor-suppressor gene is mutated in >95% of high-grade serous ovarian cancers. Detecting an autologous antibody ..
EIF1AX and NRAS Mutations Co-occur and Cooperate in Low-Grade Serous Ovarian Carcinomas
Dariush Etemadmoghadam, Walid J Azar, Ying Lei, Tania Moujaber, Dale W Garsed, Catherine J Kennedy, Sian Fereday, Chris Mitchell, Yoke-Eng Chiew, Joy Hendley, Raghwa Sharma, Paul R Harnett, Jason Li, Elizabeth L Christie, Ann-Marie Patch, Joshy George, George Au-Yeung, Gisela Mir Arnau, Timothy P Holloway, Timothy Semple
Low-grade serous ovarian carcinomas (LGSC) are associated with a poor response to chemotherapy and are molecularly characterized b..
Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene
Ed Dicks, Honglin Song, Susan J Ramus, Elke Van Oudenhove, Jonathan P Tyrer, Maria P Intermaggio, Siddhartha Kar, Patricia Harrington, David D Bowtell, Mine S Cicek, Julie M Cunningham, Brooke L Fridley, Jennifer Alsop, Mercedes Jimenez-Linan, Anna Piskorz, Teodora Goranova, Emma Kent, Nadeem Siddiqui, James Paul, Robin Crawford
We analyzed whole exome sequencing data in germline DNA from 412 high grade serous ovarian cancer (HGSOC) cases from The Cancer Ge..
Pre-diagnosis diet and survival after a diagnosis of ovarian cancer
Mary C Playdon, Christina M Nagle, Torukiri I Ibiebele, Leah M Ferrucci, Melinda M Protani, Jonathan Carter, Simon E Hyde, Deborah Neesham, James L Nicklin, Susan T Mayne, Penelope M Webb
BACKGROUND: The relationship between diet and survival after ovarian cancer diagnosis is unclear as a result of a limited number o..
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21
Yosr Hamdi, Penny Soucy, Veronique Adoue, Kyriaki Michailidou, Sander Canisius, Audrey Lemacon, Arnaud Droit, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Caroline Baynes, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Borresen-Dale, Judith S Brand, Hiltrud Brauch, Hermann Brenner
There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-ac..
Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer
Shalaka S Hampras, Lara E Sucheston-Campbell, Rikki Cannioto, Jenny Chang-Claude, Francesmary Modugno, Thilo Doerk, Peter Hillemanns, Leah Preus, Keith L Knutson, Paul K Wallace, Chi-Chen Hong, Grace Friel, Warren Davis, Mary Nesline, Celeste L Pearce, Linda E Kelemen, Marc T Goodman, Elisa V Bandera, Kathryn L Terry, Nils Schoof
BACKGROUND: Regulatory T (Treg) cells, a subset of CD4+ T lymphocytes, are mediators of immunosuppression in cancer, and, thus, va..
Serous ovarian and primary peritoneal cancers: A comparative analysis of clinico-pathological features, molecular subtypes and treatment outcome
Bo Gao, Kristina Lindemann, Lyndal Anderson, Sian Fereday, Jillian Hung, Kathryn Alsop, Richard W Tothill, Val Gebski, Catherine Kennedy, Rosemary L Balleine, Paul R Harnett, David DL Bowtell, Anna DeFazio
OBJECTIVE: Primary peritoneal cancer is rare and considered equivalent to stage III/IV ovarian cancer, but questions remain concer..
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Chenjie Zeng, Xingyi Guo, Jirong Long, Karoline B Kuchenbaecker, Arnaud Droit, Kyriaki Michailidou, Maya Ghoussaini, Siddhartha Kar, Adam Freeman, John L Hopper, Roger L Milne, Manjeet K Bolla, Qin Wang, Joe Dennis, Simona Agata, Shahana Ahmed, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova
BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771..
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Antoinette Hollestelle, Frederieke H van der Baan, Andrew Berchuck, Sharon E Johnatty, Katja K Aben, Bjarni A Agnarsson, Kristiina Aittomaki, Elisa Alducci, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Antonis C Antoniou, Carmel Apicella, Volker Arndt, Norbert Arnold, Banu K Arun, Brita Arver, Alan Ashworth, Laura Baglietto, Rosemary Balleine
OBJECTIVE: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR micro..
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Joe Dennis, Jamil Ahmad, Ella R Thompson, Francesca Damiola, Maroulio Pertesi, Catherine Voegele, Noura Mebirouk, Nivonirina Robinot, Geoffroy Durand
BACKGROUND: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group fam..
Pericytes Promote Malignant Ovarian Cancer Progression in Mice and Predict Poor Prognosis in Serous Ovarian Cancer Patients
Devbarna Sinha, Lynn Chong, Joshy George, Holger Schlueter, Susann Moenchgesang, Stuart Mills, Jason Li, Christopher Parish, David Bowtell, Pritinder Kaur
PURPOSE: The aim of this study was to investigate the role of pericytes in regulating malignant ovarian cancer progression. EXPERI..
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations
Paul DP Pharoah, Honglin Song, Ed Dicks, Maria P Intermaggio, Patricia Harrington, Caroline Baynes, Kathryn Alsop, Natalia Bogdanova, Mine S Cicek, Julie M Cunningham, Brooke L Fridley, Aleksandra Gentry-Maharaj, Peter Hillemanns, Shashi Lele, Jenny Lester, Valerie McGuire, Kirsten B Moysich, Samantha Poblete, Weiva Sieh, Lara Sucheston-Campbell
Mosaic truncating mutations in the protein phosphatase, Mg(2+)/Mn(2+)-dependent, 1D (PPM1D) gene have recently been reported with ..
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium
Jieping Lei, Anja Rudolph, Kirsten B Moysich, Sabine Behrens, Ellen L Goode, Manjeet K Bolla, Joe Dennis, Alison M Dunning, Douglas F Easton, Qin Wang, Javier Benitez, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Peter A Fasching, Lothar Haeberle, Julian Peto, Isabel dos-Santos-Silva, Elinor J Sawyer
Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothe..
High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq
Olga Kondrashova, Clare J Love, Sebastian Lunke, Arthur L Hsu, Paul M Waring, Graham R Taylor
Whilst next generation sequencing can report point mutations in fixed tissue tumour samples reliably, the accurate determination o..
Molecular profiling of low grade serous ovarian tumours identifies novel candidate driver genes
SM Hunter, MS Anglesio, GL Ryland, R Sharma, YE Chiew, SM Rowley, MA Doyle, J Li, CB Gilks, P Moss, PE Allan, AN Stephens, DG Huntsman, A deFazio, DD Bowtell, G Australian Ovarian Cancer Study, KL Gorringe, IG Campbell
Low grade serous ovarian tumours are a rare and under-characterised histological subtype of epithelial ovarian tumours, with littl..
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
BACKGROUND: Mucinous ovarian tumors are an unusual group of rare neoplasms with an apparently clear progression from benign to bor..
Efficient molecular subtype classification of high-grade serous ovarian cancer
Huei San Leong, Laura Galletta, Dariush Etemadmoghadam, Joshy George, Martin Koebel, Susan J Ramus, David Bowtell
High-grade serous carcinomas (HGSCs) account for approximately 70% of all epithelial ovarian cancers diagnosed. Using microarray g..
Whole-genome characterization of chemoresistant ovarian cancer
Ann-Marie Patch, Elizabeth L Christie, Dariush Etemadmoghadam, Dale W Garsed, Joshy George, Sian Fereday, Katia Nones, Prue Cowin, Kathryn Alsop, Peter J Bailey, Karin S Kassahn, Felicity Newell, Michael CJ Quinn, Stephen Kazakoff, Kelly Quek, Charlotte Wilhelm-Benartzi, Ed Curry, Huei San Leong, Anne Hamilton, Linda Mileshkin
Patients with high-grade serous ovarian cancer (HGSC) have experienced little improvement in overall survival, and standard treatm..
Evaluating the ovarian cancer gonadotropin hypothesis: A candidate gene study
Alice W Lee, Jonathan P Tyrer, Jennifer A Doherty, Douglas A Stram, Jolanta Kupryjanczyk, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Beata Spiewankiewicz, Emily J Myers, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Alexander Hein, Ignace Vergote, Els Van Nieuwenhuysen, Diether Lambrechts, Kristine G Wicklund, Ursula Eilber, Shan Wang-Gohrke
OBJECTIVE: Ovarian cancer is a hormone-related disease with a strong genetic basis. However, none of its high-penetrance susceptib..
Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS)
Ashley Crook, Loren Plunkett, Laura E Forrest, Nina Hallowell, Samantha Wake, Kathryn Alsop, Margaret Gleeson, David Bowtell, Gillian Mitchell, Mary-Anne Young
Population-based genetic research may produce information that has clinical implications for participants and their family. Resear..
Germline Mutation in BRCA1 or BRCA2 and Ten-Year Survival for Women Diagnosed with Epithelial Ovarian Cancer
Francisco J Candido-dos-Reis, Honglin Song, Ellen L Goode, Julie M Cunningham, Brooke L Fridley, Melissa C Larson, Kathryn Alsop, Ed Dicks, Patricia Harrington, Susan J Ramus, Anna de Fazio, Gillian Mitchell, Sian Fereday, Kelly L Bolton, Charlie Gourley, Caroline Michie, Beth Karlan, Jenny Lester, Christine Walsh, Ilana Cass
PURPOSE: To analyze the effect of germline mutations in BRCA1 and BRCA2 on mortality in patients with ovarian cancer up to 10 year..
Evidence for a time-dependent association between FOLR1 expression and survival from ovarian carcinoma: implications for clinical testing. An Ovarian Tumour Tissue Analysis consortium study
M Koebel, J Madore, SJ Ramus, BA Clarke, PDP Pharoah, S Deen, DD Bowtell, K Odunsi, U Menon, C Morrison, S Lele, W Bshara, L Sucheston, MW Beckmann, A Hein, FC Thiel, A Hartmann, DL Wachter, MS Anglesio, E Hogdall
BACKGROUND: Folate receptor 1 (FOLR1) is expressed in the majority of ovarian carcinomas (OvCa), making it an attractive target fo..
Variation in NF-kappa B Signaling Pathways and Survival in Invasive Epithelial Ovarian Cancer
Matthew S Block, Bridget Charbonneau, Robert A Vierkant, Zachary Fogarty, William R Bamlet, Paul DP Pharoah, Georgia Chenevix-Trench, Mary Anne Rossing, Daniel Cramer, Celeste Leigh Pearce, Joellen Schildkraut, Usha Menon, Susanne K Kjaer, Douglas A Levine, Jacek Gronwald, Hoda Anton Culver, Alice S Whittemore, Beth Y Karlan, Diether Lambrechts, Nicolas Wentzensen
Survival in epithelial ovarian cancer (EOC) is influenced by the host immune response, yet the key genetic determinants of inflamm..
Paclitaxel sensitivity in relation to ABCB1 expression, efflux and single nucleotide polymorphisms in ovarian cancer
Bo Gao, Amanda Russell, Jonathan Beesley, Xiao Qing Chen, Sue Healey, Michelle Henderson, Mark Wong, Catherine Emmanuel, Laura Galletta, Sharon E Johnatty, David Bowtell, Michelle Haber, Murray Norris, Paul Harnett, Georgia Chenevix-Trench, Rosemary L Balleine, Anna deFazio
ABCB1 (adenosine triphosphate-binding cassette transporter B1) mediates cellular elimination of many chemotherapeutic agents inclu..
Molecular correlates of platinum response in human high-grade serous ovarian cancer patient-derived xenografts
Monique D Topp, Lynne Hartley, Michele Cook, Valerie Heong, Emma Boehm, Lauren McShane, Jan Pyman, Orla McNally, Sumitra Ananda, Marisol Harrell, Dariush Etemadmoghadam, Laura Galletta, Kathryn Alsop, Gillian Mitchell, Stephen B Fox, Jeffrey B Kerr, Karla J Hutt, Scott H Kaufmann, Elizabeth M Swisher, David D Bowtell
INTRODUCTION: Improvement in the ability to target underlying drivers and vulnerabilities of high-grade serous ovarian cancer (HG-..
A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium
Roger L Milne, Jesus Herranz, Kyriaki Michailidou, Joe Dennis, Jonathan P Tyrer, M Pilar Zamora, Jose Ignacio Arias-Perez, Anna Gonzalez-Neira, Guillermo Pita, M Rosario Alonso, Qin Wang, Manjeet K Bolla, Kamila Czene, Mikael Eriksson, Keith Humphreys, Hatef Darabi, Jingmei Li, Hoda Anton-Culver, Susan L Neuhausen, Argyrios Ziogas
Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but ..
Impact of obesity on chemotherapy dosing for women with advanced stage serous ovarian cancer in the Australian Ovarian Cancer Study (AOCS)
George Au-Yeung, Penelope M Webb, Anna DeFazio, Sian Fereday, Mathias Bressel, Linda Mileshkin
OBJECTIVES: Obesity is an increasing health problem that is reported to influence chemotherapy dosing. The extent to which this oc..
Large-Scale Evaluation of Common Variation in Regulatory T Cell-Related Genes and Ovarian Cancer Outcome
Bridget Charbonneau, Kirsten B Moysich, Kimberly R Kalli, Ann L Oberg, Robert A Vierkant, Zachary C Fogarty, Matthew S Block, Matthew J Maurer, Krista M Goergen, Brooke L Fridley, Julie M Cunningham, David N Rider, Claudia Preston, Lynn C Hartmann, Kate Lawrenson, Chen Wang, Jonathan Tyrer, Honglin Song, Anna defazio, Sharon E Johnatty
The presence of regulatory T cells (Treg) in solid tumors is known to play a role in patient survival in ovarian cancer and other ..
Aspirin, nonaspirin nonsteroidal anti-inflammatory drug, and acetaminophen use and risk of invasive epithelial ovarian cancer: a pooled analysis in the Ovarian Cancer Association Consortium.
Britton Trabert, Roberta B Ness, Wei-Hsuan Lo-Ciganic, Megan A Murphy, Ellen L Goode, Elizabeth M Poole, Louise A Brinton, Penelope M Webb, Christina M Nagle, Susan J Jordan, null Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), Harvey A Risch, Mary Anne Rossing, Jennifer A Doherty, Marc T Goodman, Galina Lurie, Susanne K Kjær, Estrid Hogdall, Allan Jensen, Daniel W Cramer
BACKGROUND: Regular aspirin use is associated with reduced risk of several malignancies. Epidemiologic studies analyzing aspirin, ..
Synthetic lethality between CCNE1 amplification and loss of BRCA1
Dariush Etemadmoghadam, Barbara A Weir, George Au-Yeung, Kathryn Alsop, Gillian Mitchell, Joshy George, Sally Davis, Alan D D'Andrea, Kaylene Simpson, William C Hahn, David DL Bowtell
High-grade serous ovarian cancers (HGSCs) are characterized by a high frequency of TP53 mutations, BRCA1/2 inactivation, homologou..
Hormone-receptor expression and ovarian cancer survival: an Ovarian Tumor Tissue Analysis consortium study
Weiva Sieh, Martin Koebel, Teri A Longacre, David D Bowtell, Anna defazio, Marc T Goodman, Estrid Hogdall, Suha Deen, Nicolas Wentzensen, Kirsten B Moysich, James D Brenton, Blaise A Clarke, Usha Menon, C Blake Gilks, Andre Kim, Jason Madore, Sian Fereday, Joshy George, Laura Galletta, Galina Lurie
BACKGROUND: Few biomarkers of ovarian cancer prognosis have been established, partly because subtype-specific associations might b..
Nonequivalent Gene Expression and Copy Number Alterations in High-Grade Serous Ovarian Cancers with BRCA1 and BRCA2 Mutations
Joshy George, Kathryn Alsop, Dariush Etemadmoghadam, Heather Hondow, Thomas Mikeska, Alexander Dobrovic, Anna DeFazio, Gordon K Smyth, Douglas A Levine, Gillian Mitchell, David D Bowtell
PURPOSE: High-grade serous carcinoma (HGSC) accounts for the majority of epithelial ovarian cancer deaths. Genomic and functional ..
The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study
Nina Hallowell, Kathryn Alsop, Margaret Gleeson, Ashley Crook, Loren Plunkett, David Bowtell, Gillian Mitchell, Mary-Anne Young
PURPOSE: The generation of clinically significant genetic data during research studies raises a number of ethical issues about the..
RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary
Georgina L Ryland, Sally M Hunter, Maria A Doyle, Simone M Rowley, Michael Christie, Prue E Allan, David DL Bowtell, Kylie L Gorringe, Ian G Campbell
Mucinous carcinomas represent a distinct morphological subtype which can arise from several organ sites, including the ovary, and ..
High Levels of Genomic Aberrations in Serous Ovarian Cancers Are Associated with Better Survival
Lars O Baumbusch, Aslaug Helland, Yun Wang, Knut Liestol, Marci E Schaner, Ruth Holm, Dariush Etemadmoghadam, Kathryn Alsop, Pat Brown, Gillian Mitchell, Sian Fereday, Anna DeFazio, David DL Bowtell, Gunnar B Kristensen, Ole Christian Lingjaerde, Anne-Lise Borresen-Dale
Genomic instability and copy number alterations in cancer are generally associated with poor prognosis; however, recent studies ha..
Recent alcohol consumption and risk of incident ovarian carcinoma: a pooled analysis of 5,342 cases and 10,358 controls from the Ovarian Cancer Association Consortium.
Linda E Kelemen, Elisa V Bandera, Kathryn L Terry, Mary Anne Rossing, Louise A Brinton, Jennifer A Doherty, Roberta B Ness, Susanne Krüger Kjaer, Jenny Chang-Claude, Martin Köbel, Galina Lurie, Pamela J Thompson, Michael E Carney, Kirsten Moysich, Robert Edwards, Clare Bunker, Allan Jensen, Estrid Høgdall, Daniel W Cramer, Allison F Vitonis
BACKGROUND: Studies evaluating the association between alcohol intake and ovarian carcinoma (OC) are inconsistent. Because OC and ..
A Role for Common Genomic Variants in the Assessment of Familial Breast Cancer
Sarah Sawyer, Gillian Mitchell, Joanne McKinley, Georgia Chenevix-Trench, Jonathan Beesley, Xiao Qing Chen, David Bowtell, Alison H Trainer, Marion Harris, Geoffrey J Lindeman, Paul A James
PURPOSE: Genome-wide association studies have identified common genomic variants associated with increased susceptibility to breas..
9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium
Helen Warren, Frank Dudbridge, Olivia Fletcher, Nick Orr, Nichola Johnson, John L Hopper, Carmel Apicella, Melissa C Southey, Maryam Mahmoodi, Marjanka K Schmidt, Annegien Broeks, Sten Cornelissen, Linda M Braaf, Kenneth R Muir, Artitaya Lophatananon, Arkom Chaiwerawattana, Surapon Wiangnon, Peter A Fasching, Matthias W Beckmann, Arif B Ekici
BACKGROUND: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). M..
Pre-Invasive Ovarian Mucinous Tumors Are Characterized by CDKN2A and RAS Pathway Aberrations
Sally M Hunter, Kylie L Gorringe, Michael Christie, Simone M Rowley, David D Bowtell, Ian G Campbell
INTRODUCTION: Mucinous tumors are the second most common form of epithelial ovarian tumor, yet the cell of origin for this histolo..
LRP1B Deletion in High-Grade Serous Ovarian Cancers Is Associated with Acquired Chemotherapy Resistance to Liposomal Doxorubicin
Prue A Cowin, Joshy George, Sian Fereday, Elizabeth Loehrer, Peter Van Loo, Carleen Cullinane, Dariush Etemadmoghadam, Sarah Ftouni, Laura Galletta, Michael S Anglesio, Joy Hendley, Leanne Bowes, Karen E Sheppard, Elizabeth L Christie, Richard B Pearson, Paul R Harnett, Viola Heinzelmann-Schwarz, Michael Friedlander, Orla McNally, Michael Quinn
High-grade serous cancer (HGSC), the most common subtype of ovarian cancer, often becomes resistant to chemotherapy, leading to po..
BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation-Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group
Kathryn Alsop, Sian Fereday, Cliff Meldrum, Anna deFazio, Catherine Emmanuel, Joshy George, Alexander Dobrovic, Michael J Birrer, Penelope M Webb, Colin Stewart, Michael Friedlander, Stephen Fox, David Bowtell, Gillian Mitchell
PURPOSE: The frequency of BRCA1 and BRCA2 germ-line mutations in women with ovarian cancer is unclear; reports vary from 3% to 27%..
11q13 is a susceptibility locus for hormone receptor positive breast cancer
Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K Humphreys, Jean Wang, John L Hopper, Gillian S Dite, Carmel Apicella, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L Milne, M Pilar Zamora, Jose Ignacio Arias Perez
A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, ..
19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus
Kristen N Stevens, Zachary Fredericksen, Celine M Vachon, Xianshu Wang, Sara Margolin, Annika Lindblom, Heli Nevanlinna, Dario Greco, Kristiina Aittomaki, Carl Blomqvist, Jenny Chang-Claude, Alina Vrieling, Dieter Flesch-Janys, Hans-Peter Sinn, Shan Wang-Gohrke, Stefan Nickels, Hiltrud Brauch, Yon-Dschun Ko, Hans-Peter Fischer, Rita K Schmutzler
The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associat..
A Dynamic Inflammatory Cytokine Network in the Human Ovarian Cancer Microenvironment
Hagen Kulbe, Probir Chakravarty, D Andrew Leinster, Kellie A Charles, Joseph Kwong, Richard G Thompson, Jermaine I Coward, Tiziana Schioppa, Stephen C Robinson, William M Gallagher, Laura Galletta, Michael A Salako, John F Smyth, Thorsten Hagemann, Donal J Brennan, David D Bowtell, Frances R Balkwill
Constitutive production of inflammatory cytokines is a characteristic of many human malignant cell lines; however, the in vitro an..
7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium
Roger L Milne, Justo Lorenzo-Bermejo, Barbara Burwinkel, Nuria Malats, Jose Ignacio Arias, M Pilar Zamora, Javier Benitez, Manjeet K Humphreys, Montserrat Garcia-Closas, Stephen J Chanock, Jolanta Lissowska, Mark E Sherman, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Hoda Anton-Culver
BACKGROUND: Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphis..
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24
Llen L Goode, Georgia Chenevix-Trench, Honglin Song, Susan J Ramus, Maria Notaridou, Kate Lawrenson, Martin Widschwendter, Robert A Vierkant, Melissa C Larson, Susanne K Kjaer, Michael J Birrer, Andrew Berchuck, Joellen Schildkraut, Ian Tomlinson, Lambertus A Kiemeney, Linda S Cook, Jacek Gronwald, Montserrat Garcia-Closas, Martin E Gore, Ian Campbell
Ovarian cancer accounts for more deaths than all other gynecological cancers combined. To identify common low-penetrance ovarian c..
A BRCA1 promoter variant (rs11655505) and breast cancer risk
Paolo Verderio, Sara Pizzamiglio, Melissa C Southey, Amanda B Spurdle, John L Hopper, Xiaoqing Chen, Jonathan Beesley, Rita K Schmutzler, Christoph Engel, Barbara Burwinkel, Peter Bugert, Filomena Ficarazzi, Siranoush Manoukian, Monica Barile, Barbara Wappenschmidt, Georgia Chenevix-Trench, Paolo Radice, Paolo Peterlongo
BACKGROUND: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C-->T) i..
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
Honglin Song, Susan J Ramus, Jonathan Tyrer, Kelly L Bolton, Aleksandra Gentry-Maharaj, Eva Wozniak, Hoda Anton-Culver, Jenny Chang-Claude, Daniel W Cramer, Richard DiCioccio, Thilo Doerk, Ellen L Goode, Marc T Goodman, Joellen M Schildkraut, Thomas Sellers, Laura Baglietto, Matthias W Beckmann, Jonathan Beesley, Jan Blaakaer, Michael E Carney
Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess fa..
Mutation of ERBB2 Provides a Novel Alternative Mechanism for the Ubiquitous Activation of RAS-MAPK in Ovarian Serous Low Malignant Potential Tumors
Michael S Anglesio, Jeremy M Arnold, Joshy George, Anna V Tinker, Richard Tothill, Nic Waddell, Lisa Simms, Bianca Locandro, Sian Fereday, Nadia Traficante, Peter Russell, Raghwa Sharma, Michael J Birrer, Anna deFazio, Georgia Chenevix-Trench, David DL Bowtelll
Approximately, 10% to 15% of serous ovarian tumors fall into the category designated as tumors of low malignant potential (LMP). L..
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
Montserrat Garcia-Closas, Per Hall, Heli Nevanlinna, Karen Pooley, Jonathan Morrison, Douglas A Richesson, Stig E Bojesen, Borge G Nordestgaard, Christen K Axelsson, Jose I Arias, Roger L Milne, Gloria Ribas, Anna Gonzalez-Neira, Javier Benitez, Pilar Zamora, Hiltrud Brauch, Christina Justenhoven, Ute Hamann, Yon-Dschun Ko, Thomas Bruening
A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast gr..
Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis
Bernd Frank, Miriam Wiestler, Silke Kropp, Kari Hemminki, Amanda B Spurdle, Christian Sutter, Barbara Wappenschmidt, Xiaoqing Chen, Jonathan Beesley, John L Hopper, Alfons Meindl, Marion Kiechle, Tracy Slanger, Peter Bugert, Rita K Schmutzler, Claus R Bartram, Dieter Flesch-Janys, Elke Mutschelknauss, Katie Ashton, Ramona Salazar
Data from several studies have suggested that polymorphisms in A-kinase anchoring proteins (AKAPs), which are key components of si..
Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: Results from two Australian studies and an additional validation set
Jonathan Beesley, Susan J Jordan, Amanda B Spurdle, Honglin Song, Susan J Ramus, Suzanne Kruger Kjaer, Estrid Hogdall, Richard A DiCioccio, Valerie McGuire, Alice S Whittemore, Simon A Gayther, Paul DP Pharoah, Penelope M Webb, Georgia Chenevix-Trench
Although some high-risk ovarian cancer genes have been identified, it is likely that common low penetrance alleles exist that conf..
Recreational physical activity and epithelial ovarian cancer: A case-control study, systematic review, and meta-analysis
Catherine M Olsen, Christopher J Bain, Susan J Jordan, Christina M Nagle, Adle C Green, David C Whiteman, Penelope M Webb
It remains unclear whether physical activity is associated with epithelial ovarian cancer risk. We therefore examined the associat..
Risk factors for benign, borderline and invasive mucinous ovarian tumors: Epidemiological evidence of a neoplastic continuum?
Susan J Jordan, Adele C Green, David C Whiteman, Penelope M Webb
OBJECTIVE: Some molecular and histological evidence suggests that mucinous epithelial ovarian cancers develop via a sequence from ..
High resolution melting for mutation scanning of TP53 exons 5-8
Michael Krypuy, Ahmed Ashour Ahmed, Dariush Etemadmoghadam, Sarah J Hyland, Anna deFazio, Stephen B Fox, James D Brenton, David D Bowtell, Alexander Dobrovic
BACKGROUND: p53 is commonly inactivated by mutations in the DNA-binding domain in a wide range of cancers. As mutant p53 often inf..
Genome-wide association study identifies novel breast cancer susceptibility loci
Douglas F Easton, Karen A Pooley, Alison M Dunning, Paul DP Pharoah, Deborah Thompson, Dennis G Ballinger, Jeffery P Struewing, Jonathan Morrison, Helen Field, Robert Luben, Nicholas Wareham, Shahana Ahmed, Catherine S Healey, Richard Bowman, Kerstin B Meyer, Christopher A Haiman, Laurence K Kolonel, Brian E Henderson, Loic Le Marchand, Paul Brennan
Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibil..