Molecular Epidemiology of Ovarian Research Institute
Grant number: OC000109
PUBLIC ABSTRACT A major obstacle to preventive strategies for ovarian cancer is the lack of recognized modifiable risk factors. Age, a positive family history of ovarian cancer, having no children, lack of oral contraceptive use, and having intact uterine tubes are all known risk factors for ovarian cancer, but these are mostly not amenable to modification. One of the difficulties in studying risk factors for ovarian cancer is that it is one of the most complex human cancers, with several different subtypes of disease recognized. There are at least five types of the most common form of ovarian cancer (epithelial cancer), and each has quite distinct biologic features. There is evidence that p..View full description
Related publications (74)
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..
Identification of a Locus Near ULK1 Associated With Progression-Free Survival in Ovarian Cancer
Michael CJ Quinn, Karen McCue, Wei Shi, Sharon E Johnatty, Jonathan Beesley, Andrew Civitarese, Tracy A O'Mara, Dylan M Glubb, Jonathan P Tyrer, Sebastian M Armasu, Jue-Sheng Ong, Puya Gharahkhani, Yi Lu, Bo Gao, Ann-Marie Patch, Peter A Fasching, Matthias W Beckmann, Diether Lambrechts, Ignace Vergote, Digna R Velez Edwards
BACKGROUND: Many loci have been found to be associated with risk of epithelial ovarian cancer (EOC). However, although there is co..
Evolution of core archetypal phenotypes in progressive high grade serous ovarian cancer.
Aritro Nath, Patrick Cosgrove, Benjamin Copeland, Hoda Mirsafian, Elizabeth Christie, Lance Pflieger, Sumana Majumdar, Mihaela Cristea, Ernest Han, Stephen Lee, Edward Wang, Sian Fereday, Nadia Traficante, Ravi Salgia, Theresa Werner, Adam Cohen, Phillip Moos, Jeffrey Chang, David Bowtell, Andrea Bild
The evolution of resistance in high-grade serous ovarian cancer (HGSOC) cells following chemotherapy is only partially understood...
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..
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..
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..
Genome-wide association study of germline variants and breast cancer-specific mortality
Maria Escala-Garcia, Qi Guo, Thilo Doerk, Sander Canisius, Renske Keeman, Joe Dennis, Jonathan Beesley, Julie Lecarpentier, Manjeet K Bolla, Qin Wang, Jean Abraham, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Paul L Auer, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Leslie Bernstein
BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of wome..
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..
Association of p16 expression with prognosis varies across ovarian carcinoma histotypes: an Ovarian Tumor Tissue Analysis consortium study
Peter F Rambau, Robert A Vierkant, Maria P Intermaggio, Linda E Kelemen, Marc T Goodman, Esther Herpel, Paul D Pharoah, Stefan Kommoss, Mercedes Jimenez-Linan, Beth Y Karlan, Aleksandra Gentry-Maharaj, Usha Menon, Susanna Hernando Polo, Francisco J Candido dos Reis, Jennifer Anne Doherty, Simon A Gayther, Raghwa Sharma, Melissa C Larson, Paul R Harnett, Emma Hatfield
We aimed to validate the prognostic association of p16 expression in ovarian high-grade serous carcinomas (HGSC) and to explore it..
Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility
Madalene Earp, Jonathan P Tyrer, Stacey J Winham, Hui-Yi Lin, Ganna Chornokur, Joe Dennis, Katja KH Aben, Hoda Anton-Culver, Natalia Antonenkova, Elisa V Bandera, Yukie T Bean, Matthias W Beckmann, Line Bjorge, Natalia Bogdanova, Louise A Brinton, Angela Brooks-Wilson, Fiona Bruinsma, Clareann H Bunker, Ralf Butzow, Ian G Campbell
Epithelial ovarian cancer (EOC) is the fifth leading cause of cancer mortality in American women. Normal ovarian physiology is int..
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..
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..
MyD88 and TLR4 Expression in Epithelial Ovarian Cancer
Matthew S Block, Robert A Vierkant, Peter F Rambau, Stacey J Winham, Philipp Wagner, Nadia Traficante, Aleksandra Toloczko, Daniel G Tiezzi, Florin Andrei Taran, Peter Sinn, Weiva Sieh, Raghwa Sharma, Joseph H Rothstein, Teresa Ramon y Cajal, Luis Paz-Ares, Oleg Oszurek, Sandra Orsulic, Roberta B Ness, Gregg Nelson, Francesmary Modugno
OBJECTIVE: To evaluate myeloid differentiation primary response gene 88 (MyD88) and Toll-like receptor 4 (TLR4) expression in rela..
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..
Polycystic Ovary Syndrome, Oligomenorrhea, and Risk of Ovarian Cancer Histotypes: Evidence from the Ovarian Cancer Association Consortium.
Holly R Harris, Ana Babic, Penelope M Webb, Christina M Nagle, Susan J Jordan, Harvey A Risch, Mary Anne Rossing, Jennifer A Doherty, Marc T Goodman, Francesmary Modugno, Roberta B Ness, Kirsten B Moysich, Susanne K Kjær, Estrid Høgdall, Allan Jensen, Joellen M Schildkraut, Andrew Berchuck, Daniel W Cramer, Elisa V Bandera, Nicolas Wentzensen
Background: Polycystic ovary syndrome (PCOS), and one of its distinguishing characteristics, oligomenorrhea, have both been associ..
Robust Tests for Additive Gene-Environment Interaction in Case-Control Studies Using Gene-Environment Independence.
Gang Liu, Bhramar Mukherjee, Seunggeun Lee, Alice W Lee, Anna H Wu, Elisa V Bandera, Allan Jensen, Mary Anne Rossing, Kirsten B Moysich, Jenny Chang-Claude, Jennifer A Doherty, Aleksandra Gentry-Maharaj, Lambertus Kiemeney, Simon A Gayther, Francesmary Modugno, Leon Massuger, Ellen L Goode, Brooke L Fridley, Kathryn L Terry, Daniel W Cramer
There have been recent proposals advocating the use of additive gene-environment interaction instead of the widely used multiplica..
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..
History of thyroid disease and survival of ovarian cancer patients: results from the Ovarian Cancer Association Consortium, a brief report.
Albina N Minlikeeva, Jo L Freudenheim, Rikki A Cannioto, Kevin H Eng, J Brian Szender, Paul Mayor, John L Etter, Daniel W Cramer, Brenda Diergaarde, Jennifer A Doherty, Thilo Dörk, Robert Edwards, Anna deFazio, Grace Friel, Marc T Goodman, Peter Hillemanns, Estrid Høgdall, Allan Jensen, Susan J Jordan, Beth Y Karlan
BACKGROUND: Findings from in vitro studies suggest that increased exposure to thyroid hormones can influence progression of ovaria..
History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium.
Albina N Minlikeeva, Jo L Freudenheim, Kevin H Eng, Rikki A Cannioto, Grace Friel, J Brian Szender, Brahm Segal, Kunle Odunsi, Paul Mayor, Brenda Diergaarde, Emese Zsiros, Linda E Kelemen, Martin Köbel, Helen Steed, Anna deFazio, Susan J Jordan, Peter A Fasching, Matthias W Beckmann, Harvey A Risch, Mary Anne Rossing
Background: Comorbidities can affect survival of ovarian cancer patients by influencing treatment efficacy. However, little eviden..
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..
Cigarette smoking is associated with adverse survival among women with ovarian cancer: Results from a pooled analysis of 19 studies.
Camilla Praestegaard, Allan Jensen, Signe M Jensen, Thor SS Nielsen, Penelope M Webb, Christina M Nagle, Anna DeFazio, null Australian Ovarian Cancer Study Group, Estrid Høgdall, Mary Anne Rossing, Jennifer A Doherty, Kristine G Wicklund, Marc T Goodman, Francesmary Modugno, Kirsten Moysich, Roberta B Ness, Robert Edwards, Keitaro Matsuo, Satoyo Hosono, Ellen L Goode
Cigarette smoking is associated with an increased risk of developing mucinous ovarian tumors but whether it is associated with ova..
Use of common analgesic medications and ovarian cancer survival: results from a pooled analysis in the Ovarian Cancer Association Consortium.
Suzanne C Dixon, Christina M Nagle, Nicolas Wentzensen, Britton Trabert, Alicia Beeghly-Fadiel, Joellen M Schildkraut, Kirsten B Moysich, Anna deFazio, null Australian Ovarian Cancer Study Group, Harvey A Risch, Mary Anne Rossing, Jennifer A Doherty, Kristine G Wicklund, Marc T Goodman, Francesmary Modugno, Roberta B Ness, Robert P Edwards, Allan Jensen, Susanne K Kjær, Estrid Høgdall
BACKGROUND: Nonsteroidal anti-inflammatory drugs (NSAIDs) have been associated with improved survival in some cancers, but evidenc..
Assessing the genetic architecture of epithelial ovarian cancer histological subtypes
Gabriel Cuellar-Partida, Yi Lu, Suzanne C Dixon, Peter A Fasching, Alexander Hein, Stefanie Burghaus, Matthias W Beckmann, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Adriaan Vanderstichele, Jennifer Anne Doherty, Mary Anne Rossing, Jenny Chang-Claude, Anja Rudolph, Shan Wang-Gohrke, Marc T Goodman, Natalia Bogdanova, Thilo Doerk, Matthias Duerst
Epithelial ovarian cancer (EOC) is one of the deadliest common cancers. The five most common types of disease are high-grade and l..
Recreational physical inactivity and mortality in women with invasive epithelial ovarian cancer: evidence from the Ovarian Cancer Association Consortium.
Rikki A Cannioto, Michael J LaMonte, Linda E Kelemen, Harvey A Risch, Kevin H Eng, Albina N Minlikeeva, Chi-Chen Hong, J Brian Szender, Lara Sucheston-Campbell, Janine M Joseph, Andrew Berchuck, Jenny Chang-Claude, Daniel W Cramer, Anna DeFazio, Brenda Diergaarde, Thilo Dörk, Jennifer A Doherty, Robert P Edwards, Brooke L Fridley, Grace Friel
BACKGROUND: Little is known about modifiable behaviours that may be associated with epithelial ovarian cancer (EOC) survival. We c..
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..
Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study
Suzanne C Dixon, Christina M Nagle, Aaron P Thrift, Paul DP Pharoah, Celeste Leigh Pearce, Wei Zheng, Jodie N Painter, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Diether Lambrechts, Ignace Vergote, Sandrina Lambrechts, Els Van Nieuwenhuysen, Mary Anne Rossing, Jennifer A Doherty, Kristine G Wicklund, Jenny Chang-Claude, Anja Rudolph, Kirsten B Moysich
BACKGROUND: Observational studies have reported a positive association between body mass index (BMI) and ovarian cancer risk. Howe..
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..
The association between socioeconomic status and tumour stage at diagnosis of ovarian cancer: A pooled analysis of 18 case-control studies.
Camilla Præstegaard, Susanne K Kjaer, Thor SS Nielsen, Signe M Jensen, Penelope M Webb, Christina M Nagle, Estrid Høgdall, Harvey A Risch, Mary Anne Rossing, Jennifer A Doherty, Kristine G Wicklund, Marc T Goodman, Francesmary Modugno, Kirsten Moysich, Roberta B Ness, Robert P Edwards, Ellen L Goode, Stacey J Winham, Brooke L Fridley, Daniel W Cramer
PURPOSE: Socioeconomic status (SES) is a known predictor of survival for several cancers and it has been suggested that SES differ..
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 ..
Evidence of a genetic link between endometriosis and ovarian cancer
Alice W Lee, Claire Templeman, Douglas A Stram, Jonathan Beesley, Jonathan Tyrer, Andrew Berchuck, Paul P Pharoah, Georgia Chenevix-Trench, Celeste Leigh Pearce
OBJECTIVE: To evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer. DESIGN: Pooled genetic a..
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..
Shared genetics underlying epidemiological association between endometriosis and ovarian cancer
Yi Lu, Gabriel Cuellar-Partida, Jodie N Painter, Dale R Nyholt, Andrew P Morris, Peter A Fasching, Alexander Hein, Stefanie Burghaus, Matthias W Beckmann, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Adriaan Vanderstichele, Jennifer Anne Doherty, Mary Anne Rossing, Kristine G Wicklund, Jenny Chang-Claude, Ursula Eilber, Anja Rudolph, Shan Wang-Gohrke
Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including c..
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..
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..
ABCA Transporter Gene Expression and Poor Outcome in Epithelial Ovarian Cancer
Ellen L Hedditch, Bo Gao, Amanda J Russell, Yi Lu, Catherine Emmanuel, Jonathan Beesley, Sharon E Johnatty, Xiaoqing Chen, Paul Harnett, Joshy George, Rebekka T Williams, Claudia Flemming, Diether Lambrechts, Evelyn Despierre, Sandrina Lambrechts, Ignace Vergote, Beth Karlan, Jenny Lester, Sandra Orsulic, Christine Walsh
BACKGROUND: ATP-binding cassette (ABC) transporters play various roles in cancer biology and drug resistance, but their associatio..
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-..
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..
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..
Differentiating stage 1 epithelial ovarian cancer from benign ovarian tumours using a combination of tumour markers HE4, CA125, and CEA and patient's age
Srinivas Kondalsamy-Chennakesavan, Andreas Hackethal, David Bowtell, Andreas Obermair
OBJECTIVE: Evaluating the presence of possible malignant disease in women with ovarian masses relies on medical imaging and serum ..
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..
Tubal ligation and risk of ovarian cancer subtypes: a pooled analysis of case-control studies.
Weiva Sieh, Shannon Salvador, Valerie McGuire, Rachel Palmieri Weber, Kathryn L Terry, Mary Anne Rossing, Harvey Risch, Anna H Wu, Penelope M Webb, Kirsten Moysich, Jennifer A Doherty, Anna Felberg, Dianne Miller, Susan J Jordan, null Australian Cancer Study (Ovarian Cancer), null Australian Ovarian Cancer Study Group, Marc T Goodman, Galina Lurie, Jenny Chang-Claude, Anja Rudolph
BACKGROUND: Tubal ligation is a protective factor for ovarian cancer, but it is unknown whether this protection extends to all inv..
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..
Molecular characterization of mucinous ovarian tumours supports a stratified treatment approach with HER2 targeting in 19% of carcinomas
Michael S Anglesio, Stefan Kommoss, Mary C Tolcher, Blaise Clarke, Laura Galletta, Henry Porter, Sambasivarao Damaraju, Sian Fereday, Boris J Winterhoff, Steve E Kalloger, Janine Senz, Winnie Yang, Helen Steed, Ghassan Allo, Sarah Ferguson, Patricia Shaw, Attila Teoman, Joaquin J Garcia, John K Schoolmeester, Jamie Bakkum-Gamez
Mucinous ovarian carcinomas (MCs) typically do not respond to current conventional therapy. We have previously demonstrated amplif..
Tandem duplication of chromosomal segments is common in ovarian and breast cancer genomes
David J McBride, Dariush Etemadmoghadam, Susanna L Cooke, Kathryn Alsop, Joshy George, Adam Butler, Juok Cho, Danushka Galappaththige, Chris Greenman, Karen D Howarth, King W Lau, Charlotte K Ng, Keiran Raine, Jon Teague, David C Wedge, Xavier Caubit, Michael R Stratton, James D Brenton, Peter J Campbell, P Andrew Futreal
The application of paired-end next generation sequencing approaches has made it possible to systematically characterize rearrangem..
The Hippo pathway transcriptional co-activator, YAP, is an ovarian cancer oncogene
X Zhang, J George, S Deb, JL Degoutin, EA Takano, SB Fox, DDL Bowtell, KF Harvey
The Salvador-Warts-Hippo (SWH) pathway was first discovered in Drosophila melanogaster as a potent inhibitor of tissue growth. The..
Comparison of Expression Profiles in Ovarian Epithelium In Vivo and Ovarian Cancer Identifies Novel Candidate Genes Involved in Disease Pathogenesis
Catherine Emmanuel, Natalie Gava, Catherine Kennedy, Rosemary L Balleine, Raghwa Sharma, Gerard Wain, Alison Brand, Russell Hogg, Dariush Etemadmoghadam, Joshy George, Michael J Birrer, Christine L Clarke, Georgia Chenevix-Trench, David DL Bowtell, Paul R Harnett, Anna deFazio
Molecular events leading to epithelial ovarian cancer are poorly understood but ovulatory hormones and a high number of life-time ..
Driver mutations in TP53 are ubiquitous in high grade serous carcinoma of the ovary
Ashour Ahmed Ahmed, Dariush Etemadmoghadam, Jillian Temple, Andy G Lynch, Mohamed Riad, Raghwa Sharma, Colin Stewart, Sian Fereday, Carlos Caldas, Anna DeFazio, David Bowtell, James D Brenton
Numerous studies have tested the association between TP53 mutations in ovarian cancer and prognosis but these have been consistent..
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..
Body size and risk of epithelial ovarian and related cancers: A population-based case-control study
Catherine M Olsen, Christina M Nagle, David C Whiteman, David M Purdie, Adele C Green, Penelope M Webb
Different subtypes of ovarian cancer appear to have different causes; however, the association between body mass index (BMI) and t..
Consortium analysis of 7 candidate SNPs for ovarian cancer
Susan J Ramus, Robert A Vierkant, Sharon E Johnatty, Malcolm C Pike, David J Van Den Berg, Anna H Wu, Celeste Leigh Pearce, Usha Menon, Aleksandra Gentry-Maharaj, Simon A Gayther, Richard A DiCioccio, Valerie McGuire, Alice S Whittemore, Honglin Song, Douglas F Easton, Paul DP Pharoah, Montserrat Garcia-Closas, Stephen Chanock, Jolanta Lissowska, Louise Brinton
The Ovarian Cancer Association Consortium selected 7 candidate single nucleotide polymorphisms (SNPs), for which there is evidence..
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..
BRCA2 Arg372His polymorphism and epithelial ovarian cancer risk
A Auranen, AB Spurdle, XQ Chen, J Lipscombe, DM Purdie, JL Hopper, A Green, CS Healey, K Redman, AM Dunning, PD Pharoah, DF Easton, BAJ Ponder, G Chenevix-Trench, KL Novik
The BRCA2 372 HH genotype defined by the BRCA2 N372H nonconservative amino acid substitution polymorphism was recently reported to..