Molecular Epidemiology of Ovarian Cancer: The Australian Ovarian Cancer Study National Clinical Follow-Up Core
Grant number: 400281
Ovarian cancer is the seventh most common cancer in Australian women and fifth most common cause of cancer death, with approximately 1200 new cases diagnosed and 750 deaths each year. There is an urgent need to better understand the molecular, epidemiological and genetic characteristics of epithelial ovarian cancer and how these influence response to treatment and clinical outcome. Ovarian cancer is a histologically and clinically diverse disease and the variability in clinical outcome in ovarian cancer patients suggests that reliable predictive factors would be of clinical value. However, it is clear that the collection of hundreds of annotated biospecimens is essential if the interaction o..View full description
Related publications (69)
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..
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..
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..
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..
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..
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..
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 ..
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..
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..
History of hypertension, heart disease, and diabetes and ovarian cancer patient survival: evidence from the ovarian cancer association consortium.
Albina N Minlikeeva, Jo L Freudenheim, Rikki A Cannioto, J Brian Szender, Kevin H Eng, Francesmary Modugno, Roberta B Ness, Michael J LaMonte, Grace Friel, Brahm H Segal, Kunle Odunsi, Paul Mayor, Emese Zsiros, Barbara Schmalfeldt, Rüdiger Klapdor, Thilo Dӧrk, Peter Hillemanns, Linda E Kelemen, Martin Kӧbel, Helen Steed
PURPOSE: Survival following ovarian cancer diagnosis is generally low; understanding factors related to prognosis could be importa..
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..
No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival
Lara E Sucheston-Campbell, Rikki Cannioto, Alyssa I Clay, John Lewis Etter, Kevin H Eng, Song Liu, Sebastiano Battaglia, Qiang Hu, J Brian Szender, Albina Minlikeeva, Janine M Joseph, Paul Mayor, Scott I Abrams, Brahm H Segal, Paul K Wallace, Kah Teong Soh, Emese Zsiros, Hoda Anton-Culver, Elisa V Bandera, Matthias W Beckmann
Background: The precise mechanism by which the immune system is adversely affected in cancer patients remains poorly understood, b..
Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci
Siddhartha P Kar, Emily Adler, Jonathan Tyrer, Dennis Hazelett, Hoda Anton-Culver, Elisa V Bandera, Matthias W Beckmann, Andrew Berchuck, Natalia Bogdanova, Louise Brinton, Ralf Butzow, Ian Campbell, Karen Carty, Jenny Chang-Claude, Linda S Cook, Daniel W Cramer, Julie M Cunningham, Agnieszka Dansonka-Mieszkowska, Jennifer Anne Doherty, Thilo Doerk
BACKGROUND: Genome-wide association studies (GWAS) have identified 18 loci associated with serous ovarian cancer (SOC) susceptibil..
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..
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..
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..
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..
Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium
Sharon E Johnatty, Jonathan P Tyrer, Siddhartha Kar, Jonathan Beesley, Yi Lu, Bo Gao, Peter A Fasching, Alexander Hein, Arif B Ekici, Matthias W Beckmann, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambrechts, Mary Anne Rossing, Jennifer A Doherty, Jenny Chang-Claude, Francesmary Modugno, Roberta B Ness, Kirsten B Moysich
PURPOSE: Chemotherapy resistance remains a major challenge in the treatment of ovarian cancer. We hypothesize that germline polymo..
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..
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..
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..
Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk
Linda E Kelemen, Kathryn L Terry, Marc T Goodman, Penelope M Webb, Elisa V Bandera, Valerie McGuire, Mary Anne Rossing, Qinggang Wang, Ed Dicks, Jonathan P Tyrer, Honglin Song, Jolanta Kupryjanczyk, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Agnieszka Timorek, Usha Menon, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Steven A Narod
SCOPE: We reevaluated previously reported associations between variants in pathways of one-carbon (1-C) (folate) transfer genes an..
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..
Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA
Madalene A Earp, Linda E Kelemen, Anthony M Magliocco, Kenneth D Swenerton, Georgia Chenevix-Trench, Yi Lu, Alexander Hein, Arif B Ekici, Matthias W Beckmann, Peter A Fasching, Diether Lambrechts, Evelyn Despierre, Ignace Vergote, Sandrina Lambrechts, Jennifer A Doherty, Mary Anne Rossing, Jenny Chang-Claude, Anja Rudolph, Grace Friel, Kirsten B Moysich
Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing t..
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 ..
Risk of Ovarian Cancer and the NF-kappa B Pathway: Genetic Association with IL1A and TNFSF10
Bridget Charbonneau, Matthew S Block, William R Bamlet, Robert A Vierkant, Kimberly R Kalli, Zachary Fogarty, David N Rider, Thomas A Sellers, Shelley S Tworoger, Elizabeth Poole, Harvey A Risch, Helga B Salvesen, Lambertus A Kiemeney, Laura Baglietto, Graham G Giles, Gianluca Severi, Britton Trabert, Nicolas Wentzensen, Georgia Chenevix-Trench, Alice S Whittemore
A missense single-nucleotide polymorphism (SNP) in the immune modulatory gene IL1A has been associated with ovarian cancer risk (r..
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 ..
Analysis of Over 10,000 Cases Finds No Association between Previously Reported Candidate Polymorphisms and Ovarian Cancer Outcome
Kristin L White, Robert A Vierkant, Zachary C Fogarty, Bridget Charbonneau, Matthew S Block, Paul DP Pharoah, Georgia Chenevix-Trench, Mary Anne Rossing, Daniel W Cramer, Celeste Leigh Pearce, Joellen M Schildkraut, Usha Menon, Susanne Kruger Kjaer, Douglas A Levine, Jacek Gronwald, Hoda Anton Culver, Alice S Whittemore, Beth Y Karlan, Diether Lambrechts, Nicolas Wentzensen
BACKGROUND: Ovarian cancer is a leading cause of cancer-related death among women. In an effort to understand contributors to dise..
Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer
Hui Shen, Brooke L Fridley, Honglin Song, Kate Lawrenson, Julie M Cunningham, Susan J Ramus, Mine S Cicek, Jonathan Tyrer, Douglas Stram, Melissa C Larson, Martin Koebel, Argyrios Ziogas, Wei Zheng, Hannah P Yang, Anna H Wu, Eva L Wozniak, Yin Ling Woo, Boris Winterhoff, Elisabeth Wik, Alice S Whittemore
HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing in serous epithelial ovarian ..
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%..