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1. Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions

Author: Dareng, Eileen O., Coetzee, Simon G., Tyrer, Jonathan P., Peng, Pei-Chen, Rosenow, Will, Chen, Stephanie, Davis, Brian D., Dezem, Felipe Segato, Seo, Ji-Heui, Nameki, Robbin, Reyes, Alberto L., Aben, Katja K.H., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Bandera, Elisa V., Beane Freeman, Laura E., Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bolton, Kelly L., Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Cai, Hui, Campbell, Ian, Cannioto, Rikki, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chenevix-Trench, Georgia, Chiew, Yoke-Eng, Cook, Linda S., DeFazio, Anna, Dennis, Joe, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Ene, Gabrielle, Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Fostira, Florentia, Gentry-Maharaj, Aleksandra, Giles, Graham G., Goodman, Marc T., Gronwald, Jacek, Haiman, Christopher A., Håkansson, Niclas, Heitz, Florian, Hildebrandt, Michelle A.T., Høgdall, Estrid, Høgdall, Claus K., Huang, Ruea-Yea, Jensen, Allan, Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony N., Kelemen, Linda E., Kennedy, Catherine J., Khusnutdinova, Elza K., Kiemeney, Lambertus A., Kjaer, Susanne K., Kupryjanczyk, Jolanta, Labrie, Marilyne, Lambrechts, Diether, Larson, Melissa C., Le, Nhu D., Lester, Jenny, Li, Lian, Lubiński, Jan, Lush, Michael, Marks, Jeffrey R., Matsuo, Keitaro, May, Taymaa, McLaughlin, John R., McNeish, Iain A., Menon, Usha, Missmer, Stacey, Modugno, Francesmary, Moffitt, Melissa, Monteiro, Alvaro N., Moysich, Kirsten B., Narod, Steven A., Nguyen-Dumont, Tu, Odunsi, Kunle, Olsson, Håkan, Onland-Moret, N. Charlotte, Park, Sue K., Pejovic, Tanja, Permuth, Jennifer B., Piskorz, Anna, Prokofyeva, Darya, Riggan, Marjorie J., Risch, Harvey A., Rodríguez-Antona, Cristina, Rossing, Mary Anne, Sandler, Dale P., Setiawan, V. Wendy, Shan, Kang, Song, Honglin, Southey, Melissa C., Steed, Helen, Sutphen, Rebecca, Swerdlow, Anthony J., Teo, Soo Hwang, Terry, Kathryn L., Thompson, Pamela J., Vestrheim Thomsen, Liv Cecilie, Titus, Linda, Trabert, Britton, Travis, Ruth, Tworoger, Shelley S., Valen, Ellen, Van Nieuwenhuysen, Els, Edwards, Digna Velez, Vierkant, Robert A., Webb, Penelope M., Weinberg, Clarice R., Weise, Rayna Matsuno, Wentzensen, Nicolas, White, Emily, Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zeinomar, Nur, Zheng, Wei, Ziogas, Argyrios, Berchuck, Andrew, Goode, Ellen L., Huntsman, David G., Pearce, Celeste L., Ramus, Susan J., Sellers, Thomas A., Freedman, Matthew L., Lawrenson, Kate, Schildkraut, Joellen M., Hazelett, Dennis, Plummer, Jasmine T., Kar, Siddhartha, Jones, Michelle R., Pharoah, Paul D.P., and Gayther, Simon A.
Published: 2024
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2. MCM3 is a novel proliferation marker associated with longer survival for patients with tubo-ovarian high-grade serous carcinoma

Author: Kang, Eun Young, Millstein, Joshua, Popovic, Gordana, Meagher, Nicola S, Bolithon, Adelyn, Talhouk, Aline, Chiu, Derek S, Anglesio, Michael S, Leung, Betty, Tang, Katrina, Lambie, Neil, Pavanello, Marina, Da-anoy, Annalyn, Lambrechts, Diether, Loverix, Liselore, Olbrecht, Siel, Bisinotto, Christiani, Garcia-Donas, Jesus, Ruiz-Llorente, Sergio, Yagüe-Fernandez, Monica, Edwards, Robert P, Elishaev, Esther, Olawaiye, Alexander, Taylor, Sarah, Ataseven, Beyhan, du Bois, Andreas, Harter, Philipp, Lester, Jenny, Høgdall, Claus K, Armasu, Sebastian M, Huang, Yajue, Vierkant, Robert A, Wang, Chen, Winham, Stacey J, Heublein, Sabine, Kommoss, Felix KF, Cramer, Daniel W, Sasamoto, Naoko, van-Wagensveld, Lilian, Lycke, Maria, Mateoiu, Constantina, Joseph, Janine, Pike, Malcolm C, Odunsi, Kunle, Tseng, Chiu-Chen, Pearce, Celeste L, Bilic, Sanela, Conrads, Thomas P, Hartmann, Arndt, Hein, Alexander, Jones, Michael E, Leung, Yee, Beckmann, Matthias W, Ruebner, Matthias, Schoemaker, Minouk J, Terry, Kathryn L, El-Bahrawy, Mona A, Coulson, Penny, Etter, John L, LaVigne-Mager, Katherine, Andress, Juergen, Grube, Marcel, Fischer, Anna, Neudeck, Nina, Robertson, Greg, Farrell, Rhonda, Barlow, Ellen, Quinn, Carmel, Hettiaratchi, Anusha, Casablanca, Yovanni, Erber, Ramona, Stewart, Colin JR, Tan, Adeline, Yu, Yu, Boros, Jessica, Brand, Alison H, Harnett, Paul R, Kennedy, Catherine J, Nevins, Nikilyn, Morgan, Terry, Fasching, Peter A, Vergote, Ignace, Swerdlow, Anthony J, Candido dos Reis, Francisco J, Maxwell, G Larry, Neuhausen, Susan L, Barquin-Garcia, Arantzazu, Modugno, Francesmary, Moysich, Kirsten B, Crowe, Philip J, Hirasawa, Akira, Heitz, Florian, Karlan, Beth Y, Goode, Ellen L, Sinn, Peter, Horlings, Hugo M, Høgdall, Estrid, Sundfeldt, Karin, Kommoss, Stefan, and Staebler, Annette
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Women's Health, Infectious Diseases, HIV/AIDS, Cancer, Rare Diseases, Sexually Transmitted Infections, Genetics, 5.1 Pharmaceuticals, 2.1 Biological and endogenous factors, Biomarkers, Tumor, Cell Proliferation, Cystadenocarcinoma, Serous, Female, Humans, Ki-67 Antigen, Minichromosome Maintenance Complex Component 3, Ovarian Neoplasms, RNA, Messenger, Survival Rate, High-grade serous carcinoma, Proliferation, MCM3, Clinical Sciences, Pathology, Clinical sciences
Abstract: Tubo-ovarian high-grade serous carcinomas (HGSC) are highly proliferative neoplasms that generally respond well to platinum/taxane chemotherapy. We recently identified minichromosome maintenance complex component 3 (MCM3), which is involved in the initiation of DNA replication and proliferation, as a favorable prognostic marker in HGSC. Our objective was to further validate whether MCM3 mRNA expression and possibly MCM3 protein levels are associated with survival in patients with HGSC. MCM3 mRNA expression was measured using NanoString expression profiling on formalin-fixed and paraffin-embedded tissue (N = 2355 HGSC) and MCM3 protein expression was assessed by immunohistochemistry (N = 522 HGSC) and compared with Ki-67. Kaplan-Meier curves and the Cox proportional hazards model were used to estimate associations with survival. Among chemotherapy-naïve HGSC, higher MCM3 mRNA expression (one standard deviation increase in the score) was associated with longer overall survival (HR = 0.87, 95% CI 0.81-0.92, p
Published: 2022

3. The Association of Prenatal Vitamins and Folic Acid Supplement Intake with Odds of Autism Spectrum Disorder in a High-Risk Sibling Cohort, the Early Autism Risk Longitudinal Investigation (EARLI)

Author: Brieger, Katharine K., Bakulski, Kelly M., Pearce, Celeste L., Baylin, Ana, Dou, John F., Feinberg, Jason I., Croen, Lisa A., Hertz-Picciotto, Irva, Newschaffer, Craig J., Fallin, M. Daniele, and Schmidt, Rebecca J.
Abstract: We examined maternal prenatal vitamin use or supplemental folic acid intake during month one of pregnancy for association with autism spectrum disorder (ASD) in the Early Autism Risk Longitudinal Investigation, an enriched-risk pregnancy cohort. Total folic acid intake was calculated from monthly prenatal vitamins, multivitamins, and other supplement reports. Clinical assessments through age 3 years classified children as ASD (n = 38) or non-ASD (n = 153). In pregnancy month one, prenatal vitamin use (59.7%) was not significantly associated with odds of ASD (OR = 0.70, 95%CI 0.32, 1.53). Sample size was limited and residual confounding was possible. Given the estimated effect sizes in this and previous work, prenatal vitamin intake during early pregnancy could be a clinically useful preventative measure for ASD.
Published: 2022
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4. Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Author: Song, Honglin, Dicks, Ed M, Tyrer, Jonathan, Intermaggio, Maria, Chenevix-Trench, Georgia, Bowtell, David D, Traficante, Nadia, Group, AOCS, Brenton, James, Goranova, Teodora, Hosking, Karen, Piskorz, Anna, van Oudenhove, Elke, Doherty, Jen, Harris, Holly R, Rossing, Mary Anne, Duerst, Matthias, Dork, Thilo, Bogdanova, Natalia V, Modugno, Francesmary, Moysich, Kirsten, Odunsi, Kunle, Ness, Roberta, Karlan, Beth Y, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Krüger, Høgdall, Estrid, Campbell, Ian G, Lázaro, Conxi, Pujara, Miguel Angel, Cunningham, Julie, Vierkant, Robert, Winham, Stacey J, Hildebrandt, Michelle, Huff, Chad, Li, Donghui, Wu, Xifeng, Yu, Yao, Permuth, Jennifer B, Levine, Douglas A, Schildkraut, Joellen M, Riggan, Marjorie J, Berchuck, Andrew, Webb, Penelope M, Group, OPAL Study, Cybulski, Cezary, Gronwald, Jacek, Jakubowska, Anna, Lubinski, Jan, Alsop, Jennifer, Harrington, Patricia, Chan, Isaac, Menon, Usha, Pearce, Celeste L, Wu, Anna H, de Fazio, Anna, Kennedy, Catherine J, Goode, Ellen, Ramus, Susan, Gayther, Simon, and Pharoah, Paul
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Orphan Drug, Ovarian Cancer, Prevention, Clinical Research, Rare Diseases, Cancer, 2.1 Biological and endogenous factors, Aetiology, Case-Control Studies, Fanconi Anemia Complementation Group N Protein, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Ovarian Neoplasms, Risk Assessment, cancer, endocrine, genetic epidemiology, cancer: endocrine, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract: PurposeThe known epithelial ovarian cancer (EOC) susceptibility genes account for less than 50% of the heritable risk of ovarian cancer suggesting that other susceptibility genes exist. The aim of this study was to evaluate the contribution to ovarian cancer susceptibility of rare deleterious germline variants in a set of candidate genes.MethodsWe sequenced the coding region of 54 candidate genes in 6385 invasive EOC cases and 6115 controls of broad European ancestry. Genes with an increased frequency of putative deleterious variants in cases versus controls were further examined in an independent set of 14 135 EOC cases and 28 655 controls from the Ovarian Cancer Association Consortium and the UK Biobank. For each gene, we estimated the EOC risks and evaluated associations between germline variant status and clinical characteristics.ResultsThe ORs associated for high-grade serous ovarian cancer were 3.01 for PALB2 (95% CI 1.59 to 5.68; p=0.00068), 1.99 for POLK (95% CI 1.15 to 3.43; p=0.014) and 4.07 for SLX4 (95% CI 1.34 to 12.4; p=0.013). Deleterious mutations in FBXO10 were associated with a reduced risk of disease (OR 0.27, 95% CI 0.07 to 1.00, p=0.049). However, based on the Bayes false discovery probability, only the association for PALB2 in high-grade serous ovarian cancer is likely to represent a true positive.ConclusionsWe have found strong evidence that carriers of PALB2 deleterious mutations are at increased risk of high-grade serous ovarian cancer. Whether the magnitude of risk is sufficiently high to warrant the inclusion of PALB2 in cancer gene panels for ovarian cancer risk testing is unclear; much larger sample sizes will be needed to provide sufficiently precise estimates for clinical counselling.
Published: 2021

5. Development and Validation of the Gene Expression Predictor of High-grade Serous Ovarian Carcinoma Molecular SubTYPE (PrOTYPE)

Author: Talhouk, Aline, George, Joshy, Wang, Chen, Budden, Timothy, Tan, Tuan Zea, Chiu, Derek S, Kommoss, Stefan, San Leong, Huei, Chen, Stephanie, Intermaggio, Maria P, Gilks, Blake, Nazeran, Tayyebeh M, Volchek, Mila, Elatre, Wafaa, Bentley, Rex C, Senz, Janine, Lum, Amy, Chow, Veronica, Sudderuddin, Hanwei, Mackenzie, Robertson, Leong, Samuel CY, Liu, Geyi, Johnson, Dustin, Chen, Billy, Group, AOCS, Alsop, Jennifer, Banerjee, Susana N, Behrens, Sabine, Bodelon, Clara, Brand, Alison H, Brinton, Louise, Carney, Michael E, Chiew, Yoke-Eng, Cushing-Haugen, Kara L, Cybulski, Cezary, Ennis, Darren, Fereday, Sian, Fortner, Renée T, García-Donas, Jesús, Gentry-Maharaj, Aleksandra, Glasspool, Rosalind, Goranova, Teodora, Greene, Casey S, Haluska, Paul, Harris, Holly R, Hendley, Joy, Hernandez, Brenda Y, Herpel, Esther, Jimenez-Linan, Mercedes, Karpinskyj, Chloe, Kaufmann, Scott H, Keeney, Gary L, Kennedy, Catherine J, Köbel, Martin, Koziak, Jennifer M, Larson, Melissa C, Lester, Jenny, Lewsley, Liz-Anne, Lissowska, Jolanta, Lubiński, Jan, Luk, Hugh, Macintyre, Geoff, Mahner, Sven, McNeish, Iain A, Menkiszak, Janusz, Nevins, Nikilyn, Osorio, Ana, Oszurek, Oleg, Palacios, José, Hinsley, Samantha, Pearce, Celeste L, Pike, Malcolm C, Piskorz, Anna M, Ray-Coquard, Isabelle, Rhenius, Valerie, Rodriguez-Antona, Cristina, Sharma, Raghwa, Sherman, Mark E, De Silva, Dilrini, Singh, Naveena, Sinn, Peter, Slamon, Dennis, Song, Honglin, Steed, Helen, Stronach, Euan A, Thompson, Pamela J, Tołoczko, Aleksandra, Trabert, Britton, Traficante, Nadia, Tseng, Chiu-Chen, Widschwendter, Martin, Wilkens, Lynne R, Winham, Stacey J, Winterhoff, Boris, Beeghly-Fadiel, Alicia, Benitez, Javier, Berchuck, Andrew, Brenton, James D, Brown, Robert, and Chang-Claude, Jenny
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Orphan Drug, Genetics, Ovarian Cancer, Women's Health, Cancer Genomics, Precision Medicine, Cancer, Human Genome, 4.2 Evaluation of markers and technologies, Good Health and Well Being, Aged, Algorithms, Cystadenoma, Serous, Female, Gene Expression Regulation, Neoplastic, Humans, Lymphocytes, Tumor-Infiltrating, Middle Aged, Neoplasm Grading, Neoplasm Proteins, Neoplasm, Residual, Ovarian Neoplasms, Transcriptome, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract: PurposeGene expression-based molecular subtypes of high-grade serous tubo-ovarian cancer (HGSOC), demonstrated across multiple studies, may provide improved stratification for molecularly targeted trials. However, evaluation of clinical utility has been hindered by nonstandardized methods, which are not applicable in a clinical setting. We sought to generate a clinical grade minimal gene set assay for classification of individual tumor specimens into HGSOC subtypes and confirm previously reported subtype-associated features.Experimental designAdopting two independent approaches, we derived and internally validated algorithms for subtype prediction using published gene expression data from 1,650 tumors. We applied resulting models to NanoString data on 3,829 HGSOCs from the Ovarian Tumor Tissue Analysis consortium. We further developed, confirmed, and validated a reduced, minimal gene set predictor, with methods suitable for a single-patient setting.ResultsGene expression data were used to derive the predictor of high-grade serous ovarian carcinoma molecular subtype (PrOTYPE) assay. We established a de facto standard as a consensus of two parallel approaches. PrOTYPE subtypes are significantly associated with age, stage, residual disease, tumor-infiltrating lymphocytes, and outcome. The locked-down clinical grade PrOTYPE test includes a model with 55 genes that predicted gene expression subtype with >95% accuracy that was maintained in all analytic and biological validations.ConclusionsWe validated the PrOTYPE assay following the Institute of Medicine guidelines for the development of omics-based tests. This fully defined and locked-down clinical grade assay will enable trial design with molecular subtype stratification and allow for objective assessment of the predictive value of HGSOC molecular subtypes in precision medicine applications.See related commentary by McMullen et al., p. 5271.
Published: 2020

6. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.

Author: Zhang, Yan Dora, Hurson, Amber N, Zhang, Haoyu, Choudhury, Parichoy Pal, Easton, Douglas F, Milne, Roger L, Simard, Jacques, Hall, Per, Michailidou, Kyriaki, Dennis, Joe, Schmidt, Marjanka K, Chang-Claude, Jenny, Gharahkhani, Puya, Whiteman, David, Campbell, Peter T, Hoffmeister, Michael, Jenkins, Mark, Peters, Ulrike, Hsu, Li, Gruber, Stephen B, Casey, Graham, Schmit, Stephanie L, O'Mara, Tracy A, Spurdle, Amanda B, Thompson, Deborah J, Tomlinson, Ian, De Vivo, Immaculata, Landi, Maria Teresa, Law, Matthew H, Iles, Mark M, Demenais, Florence, Kumar, Rajiv, MacGregor, Stuart, Bishop, D Timothy, Ward, Sarah V, Bondy, Melissa L, Houlston, Richard, Wiencke, John K, Melin, Beatrice, Barnholtz-Sloan, Jill, Kinnersley, Ben, Wrensch, Margaret R, Amos, Christopher I, Hung, Rayjean J, Brennan, Paul, McKay, James, Caporaso, Neil E, Berndt, Sonja I, Birmann, Brenda M, Camp, Nicola J, Kraft, Peter, Rothman, Nathaniel, Slager, Susan L, Berchuck, Andrew, Pharoah, Paul DP, Sellers, Thomas A, Gayther, Simon A, Pearce, Celeste L, Goode, Ellen L, Schildkraut, Joellen M, Moysich, Kirsten B, Amundadottir, Laufey T, Jacobs, Eric J, Klein, Alison P, Petersen, Gloria M, Risch, Harvey A, Stolzenberg-Solomon, Rachel Z, Wolpin, Brian M, Li, Donghui, Eeles, Rosalind A, Haiman, Christopher A, Kote-Jarai, Zsofia, Schumacher, Fredrick R, Al Olama, Ali Amin, Purdue, Mark P, Scelo, Ghislaine, Dalgaard, Marlene D, Greene, Mark H, Grotmol, Tom, Kanetsky, Peter A, McGlynn, Katherine A, Nathanson, Katherine L, Turnbull, Clare, Wiklund, Fredrik, Breast Cancer Association Consortium (BCAC), Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON), Colon Cancer Family Registry (CCFR), Transdisciplinary Studies of Genetic Variation in Colorectal Cancer (CORECT), Endometrial Cancer Association Consortium (ECAC), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Melanoma Genetics Consortium (GenoMEL), Glioma International Case-Control Study (GICC), International Lung Cancer Consortium (ILCCO), Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, International Consortium of Investigators Working on Non-Hodgkin’s Lymphoma Epidemiologic Studies (InterLymph), Ovarian Cancer Association Consortium (OCAC), Oral Cancer GWAS, Pancreatic Cancer Case-Control Consortium (PanC4), Pancreatic Cancer Cohort Consortium (PanScan), and Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL)
Subjects: Breast Cancer Association Consortium, Barrett’s and Esophageal Adenocarcinoma Consortium, Colon Cancer Family Registry, Transdisciplinary Studies of Genetic Variation in Colorectal Cancer, Endometrial Cancer Association Consortium, Genetics and Epidemiology of Colorectal Cancer Consortium, Melanoma Genetics Consortium, Glioma International Case-Control Study, International Lung Cancer Consortium, Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, International Consortium of Investigators Working on Non-Hodgkin’s Lymphoma Epidemiologic Studies, Ovarian Cancer Association Consortium, Oral Cancer GWAS, Pancreatic Cancer Case-Control Consortium, Pancreatic Cancer Cohort Consortium, Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome, Renal Cancer GWAS, Testicular Cancer Consortium, Animals, Humans, Neoplasms, Genetic Predisposition to Disease, Incidence, Risk Assessment, Risk Factors, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Models, Genetic, Female, Male, Genome-Wide Association Study, Human Genome, Prevention, Cancer, Prostate Cancer, Genetics, Urologic Diseases, 2.1 Biological and endogenous factors
Abstract: Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fourteen cancer sites to estimate the number of common susceptibility variants (polygenicity) and underlying effect-size distribution. All cancers show a high degree of polygenicity, involving at a minimum of thousands of loci. We project that sample sizes required to explain 80% of GWAS heritability vary from 60,000 cases for testicular to over 1,000,000 cases for lung cancer. The maximum relative risk achievable for subjects at the 99th risk percentile of underlying polygenic risk scores (PRS), compared to average risk, ranges from 12 for testicular to 2.5 for ovarian cancer. We show that PRS have potential for risk stratification for cancers of breast, colon and prostate, but less so for others because of modest heritability and lower incidence.
Published: 2020

7. Population based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high grade serous ovarian cancer

Author: Song, Honglin, Dicks, Ed, Tyrer, Jonathan P, Intermaggio, Maria, Chenevix-Trench, Georgia, Bowtell, David D, Traficante, Nadia, Group, AOCS, Brenton, James D, Goranova, Teodora, Hosking, Karen, Piskorz, Anna, Van Oudenhove, Elke, Doherty, Jennifer Anne, Harris, Holly R, Rossing, Mary Anne, Dürst, Matthias, Dörk, Thilo, Bogdanova, Natalia V, Modugno, Francesmary, Moysich, Kirsten B, Odunsi, Kunle, Ness, Roberta B, Karlan, Beth Y, Lester, Jenny, Jensen, Allan, Kjaer, Susanne K, Høgdall, Estrid, Campbell, Ian, Lazaro, Conxi, Pujana, Miquel Angel, Cunningham, Julie M, Vierkant, Robert A, Winham, Stacey J, Hildebrandt, Michelle AT, Huff, Chad, Li, Donghui, Wu, Xifeng, Yu, Yao, Permuth, Jennifer B, Levine, Douglas A, Schildkraut, Joellen M, Riggan, Marjorie J, Berchuck, Andrew, Webb, Penelope M, Group, OPAL Study, Cybulski, Cezary, Gronwald, Jacek, Jakubowska, Anna, Lubiński, Jan, Alsop, Jennifer, Harrington, Patricia A, Chan, Isaac, Menon, Usha, Pearce, Celeste L, Wu, Anna H, de Fazio, Anna, Kennedy, Catherine J, Goode, Ellen L, Ramus, Susan J, Gayther, Simon A, and Pharoah, Paul DP
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Sciences, Oncology and Carcinogenesis, Orphan Drug, Clinical Research, Human Genome, Rare Diseases, Ovarian Cancer, Cancer, Prevention, 2.1 Biological and endogenous factors, Aetiology
Abstract: Abstract: Purpose: The known EOC susceptibility genes account for less than 50% of the heritable risk of ovarian cancer suggesting other susceptibility genes exist. The aim of this study was to evaluate the contribution to ovarian cancer susceptibility of rare deleterious germline variants in a set of candidate genes. Methods: We sequenced the coding region of 54 candidate genes in 6385 invasive EOC cases and 6115 controls of broad European ancestry. Genes with an increased frequency of putative deleterious variants in cases verses controls were further examined in an independent set of 14,146 EOC cases and 28,661 controls from the ovarian cancer association consortium and the UK Biobank. For each gene, we estimated the EOC risks and evaluated associations between germline variant status and clinical characteristics. Results: The odds ratios (OR) associated for high-grade serous ovarian cancer were 3.01 for PALB2 (95% CI 1.59 – 5.68; P = 0.00068), 1.99 for POLK (95% CI 1.15 – 3.43; P = 0.014), and 4.07 for SLX4 (95% CI 1.34-12.4; P = 0.013). Deleterious mutations in FBXO10 were associated with a reduced risk of disease (OR 0.27, 95% CI 0.07 −1.00, P=0.049). However, based on the Bayes false discovery probability, only the association for PALB2 in high-grade serous ovarian cancer is likely to represent a true positive. Conclusions: We have found strong evidence that carriers of PALB2 deleterious mutations are at increased risk of high-grade serous ovarian cancer. Whether the magnitude of risk is sufficiently high to warrant the inclusion of PALB2 in cancer gene panels for ovarian cancer risk testing is unclear; much larger sample sizes will be needed to provide sufficiently precise estimates for clinical counselling.
Published: 2019

8. Association between genetically predicted polycystic ovary syndrome and ovarian cancer: a Mendelian randomization study

Author: Harris, Holly R, Cushing-Haugen, Kara L, Webb, Penelope M, Nagle, Christina M, Jordan, Susan J, Group, Australian Ovarian Cancer Study, Risch, Harvey A, Rossing, Mary Anne, Doherty, Jennifer A, Goodman, Marc T, Modugno, Francesmary, Ness, Roberta B, Moysich, Kirsten B, Kjær, Susanne K, Høgdall, Estrid, Jensen, Allan, Schildkraut, Joellen M, Berchuck, Andrew, Cramer, Daniel W, Bandera, Elisa V, Rodriguez, Lorna, Wentzensen, Nicolas, Kotsopoulos, Joanne, Narod, Steven A, McLaughlin, John R, Anton-Culver, Hoda, Ziogas, Argyrios, Pearce, Celeste L, Wu, Anna H, Lindström, Sara, and Terry, Kathryn L
Subjects: Epidemiology, Health Sciences, Ovarian Cancer, Prevention, Genetics, Clinical Research, Infertility, Cancer, Contraception/Reproduction, Rare Diseases, Reproductive health and childbirth, Good Health and Well Being, Adenocarcinoma, Clear Cell, Adenocarcinoma, Mucinous, Carcinoma, Endometrioid, Female, Humans, Mendelian Randomization Analysis, Neoplasms, Cystic, Mucinous, and Serous, Ovarian Neoplasms, Polycystic Ovary Syndrome, Polycystic ovary syndrome, ovarian cancer, histotype, Mendelian randomization, Australian Ovarian Cancer Study Group, Statistics, Public Health and Health Services, Public health
Abstract: BackgroundPolycystic ovary syndrome (PCOS) is a complex endocrine disorder with an estimated prevalence of 4-21% in reproductive aged women. Recently, the Ovarian Cancer Association Consortium (OCAC) reported a decreased risk of invasive ovarian cancer among women with self-reported PCOS. However, given the limitations of self-reported PCOS, the validity of these observed associations remains uncertain. Therefore, we sought to use Mendelian randomization with genetic markers as a proxy for PCOS, to examine the association between PCOS and ovarian cancer.MethodsUtilizing 14 single nucleotide polymorphisms (SNPs) previously associated with PCOS we assessed the association between genetically predicted PCOS and ovarian cancer risk, overall and by histotype, using summary statistics from a previously conducted genome-wide association study (GWAS) of ovarian cancer among European ancestry women within the OCAC (22 406 with invasive disease, 3103 with borderline disease and 40 941 controls).ResultsAn inverse association was observed between genetically predicted PCOS and invasive ovarian cancer risk: odds ratio (OR)=0.92 [95% confidence interval (CI)=0.85-0.99; P = 0.03]. When results were examined by histotype, the strongest inverse association was observed between genetically predicted PCOS and endometrioid tumors (OR = 0.77; 95% CI = 0.65-0.92; P = 0.003). Adjustment for individual-level body mass index, oral contraceptive use and parity did not materially change the associations.ConclusionOur study provides evidence for a relationship between PCOS and reduced ovarian cancer risk, overall and among specific histotypes of invasive ovarian cancer. These results lend support to our previous observational study results. Future studies are needed to understand mechanisms underlying this association.
Published: 2019

9. Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women

Author: Lawrenson, Kate, Song, Fengju, Hazelett, Dennis J, Kar, Siddhartha P, Tyrer, Jonathan, Phelan, Catherine M, Corona, Rosario I, Rodríguez-Malavé, Norma I, Seo, Ji-Hei, Adler, Emily, Coetzee, Simon G, Segato, Felipe, Fonseca, Marcos AS, Amos, Christopher I, Carney, Michael E, Chenevix-Trench, Georgia, Choi, Jiyeob, Doherty, Jennifer A, Jia, Weihua, Jin, Gang J, Kim, Byoung-Gie, Le, Nhu D, Lee, Juyeon, Li, Lian, Lim, Boon K, Adenan, Noor A, Mizuno, Mika, Park, Boyoung, Pearce, Celeste L, Shan, Kang, Shi, Yongyong, Shu, Xiao-Ou, Sieh, Weiva, Group, The Australian Ovarian Cancer Study, Thompson, Pamela J, Wilkens, Lynne R, Wei, Qingyi, Woo, Yin L, Yan, Li, Karlan, Beth Y, Freedman, Matthew L, Noushmehr, Houtan, Goode, Ellen L, Berchuck, Andrew, Sellers, Thomas A, Teo, Soo-Hwang, Zheng, Wei, Matsuo, Keitaro, Park, Sue, Chen, Kexin, Pharoah, Paul DP, Gayther, Simon A, and Goodman, Marc T
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Biotechnology, Human Genome, Ovarian Cancer, Genetics, Prevention, Clinical Research, Rare Diseases, Cancer, 2.1 Biological and endogenous factors, Aetiology, Asian People, Base Sequence, Carcinoma, Ovarian Epithelial, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-wide association study, Asian ancestry, Epithelial ovarian cancer, Enhancer, eQTL, Gene regulation, Australian Ovarian Cancer Study Group, Paediatrics and Reproductive Medicine, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis, Reproductive medicine
Abstract: ObjectiveGenome-wide association studies (GWASs) for epithelial ovarian cancer (EOC) have focused largely on populations of European ancestry. We aimed to identify common germline variants associated with EOC risk in Asian women.MethodsGenotyping was performed as part of the OncoArray project. Samples with >60% Asian ancestry were included in the analysis. Genotyping was performed on 533,631 SNPs in 3238 Asian subjects diagnosed with invasive or borderline EOC and 4083 unaffected controls. After imputation, genotypes were available for 11,595,112 SNPs to identify associations.ResultsAt chromosome 6p25.2, SNP rs7748275 was associated with risk of serous EOC (odds ratio [OR] = 1.34, P = 8.7 × 10-9) and high-grade serous EOC (HGSOC) (OR = 1.34, P = 4.3 × 10-9). SNP rs6902488 at 6p25.2 (r2 = 0.97 with rs7748275) lies in an active enhancer and is predicted to impact binding of STAT3, P300 and ELF1. We identified additional risk loci with low Bayesian false discovery probability (BFDP) scores, indicating they are likely to be true risk associations (BFDP
Published: 2019

10. Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk

Author: Yang, Yaohua, Wu, Lang, Shu, Xiang, Lu, Yingchang, Shu, Xiao-Ou, Cai, Qiuyin, Beeghly-Fadiel, Alicia, Li, Bingshan, Ye, Fei, Berchuck, Andrew, Anton-Culver, Hoda, Banerjee, Susana, Benitez, Javier, Bjørge, Line, Brenton, James D, Butzow, Ralf, Campbell, Ian G, Chang-Claude, Jenny, Chen, Kexin, Cook, Linda S, Cramer, Daniel W, deFazio, Anna, Dennis, Joe, Doherty, Jennifer A, Dörk, Thilo, Eccles, Diana M, Edwards, Digna Velez, Fasching, Peter A, Fortner, Renée T, Gayther, Simon A, Giles, Graham G, Glasspool, Rosalind M, Goode, Ellen L, Goodman, Marc T, Gronwald, Jacek, Harris, Holly R, Heitz, Florian, Hildebrandt, Michelle A, Høgdall, Estrid, Høgdall, Claus K, Huntsman, David G, Kar, Siddhartha P, Karlan, Beth Y, Kelemen, Linda E, Kiemeney, Lambertus A, Kjaer, Susanne K, Koushik, Anita, Lambrechts, Diether, Le, Nhu D, Levine, Douglas A, Massuger, Leon F, Matsuo, Keitaro, May, Taymaa, McNeish, Iain A, Menon, Usha, Modugno, Francesmary, Monteiro, Alvaro N, Moorman, Patricia G, Moysich, Kirsten B, Ness, Roberta B, Nevanlinna, Heli, Olsson, Håkan, Onland-Moret, N Charlotte, Park, Sue K, Paul, James, Pearce, Celeste L, Pejovic, Tanja, Phelan, Catherine M, Pike, Malcolm C, Ramus, Susan J, Riboli, Elio, Rodriguez-Antona, Cristina, Romieu, Isabelle, Sandler, Dale P, Schildkraut, Joellen M, Setiawan, Veronica W, Shan, Kang, Siddiqui, Nadeem, Sieh, Weiva, Stampfer, Meir J, Sutphen, Rebecca, Swerdlow, Anthony J, Szafron, Lukasz M, Teo, Soo Hwang, Tworoger, Shelley S, Tyrer, Jonathan P, Webb, Penelope M, Wentzensen, Nicolas, White, Emily, Willett, Walter C, Wolk, Alicja, Woo, Yin Ling, Wu, Anna H, Yan, Li, Yannoukakos, Drakoulis, Chenevix-Trench, Georgia, Sellers, Thomas A, Pharoah, Paul DP, Zheng, Wei, and Long, Jirong
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Biotechnology, Rare Diseases, Ovarian Cancer, Cancer Genomics, Prevention, Women's Health, Cancer, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Biomarkers, Tumor, Carcinoma, Ovarian Epithelial, Cohort Studies, DNA Methylation, Female, Genetic Predisposition to Disease, Humans, Models, Genetic, Ovarian Neoplasms, Predictive Value of Tests, Risk, White People, Oncology & Carcinogenesis, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract: DNA methylation is instrumental for gene regulation. Global changes in the epigenetic landscape have been recognized as a hallmark of cancer. However, the role of DNA methylation in epithelial ovarian cancer (EOC) remains unclear. In this study, high-density genetic and DNA methylation data in white blood cells from the Framingham Heart Study (N = 1,595) were used to build genetic models to predict DNA methylation levels. These prediction models were then applied to the summary statistics of a genome-wide association study (GWAS) of ovarian cancer including 22,406 EOC cases and 40,941 controls to investigate genetically predicted DNA methylation levels in association with EOC risk. Among 62,938 CpG sites investigated, genetically predicted methylation levels at 89 CpG were significantly associated with EOC risk at a Bonferroni-corrected threshold of P < 7.94 × 10-7. Of them, 87 were located at GWAS-identified EOC susceptibility regions and two resided in a genomic region not previously reported to be associated with EOC risk. Integrative analyses of genetic, methylation, and gene expression data identified consistent directions of associations across 12 CpG, five genes, and EOC risk, suggesting that methylation at these 12 CpG may influence EOC risk by regulating expression of these five genes, namely MAPT, HOXB3, ABHD8, ARHGAP27, and SKAP1. We identified novel DNA methylation markers associated with EOC risk and propose that methylation at multiple CpG may affect EOC risk via regulation of gene expression. SIGNIFICANCE: Identification of novel DNA methylation markers associated with EOC risk suggests that methylation at multiple CpG may affect EOC risk through regulation of gene expression.
Published: 2019

11. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Author: Dareng, Eileen O., Tyrer, Jonathan P., Barnes, Daniel R., Jones, Michelle R., Yang, Xin, Aben, Katja K. H., Adank, Muriel A., Agata, Simona, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Arun, Banu K., Augustinsson, Annelie, Balmaña, Judith, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bonanni, Bernardo, Borg, Ake, Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Cassingham, Hayley, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chiew, Yoke-Eng, Chung, Wendy K., Claes, Kathleen B. M., Colonna, Sarah, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Høgdall, Estrid, Høgdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th., John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., Matsuno, Rayna Kim, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo I., Olson, Sara H., Olsson, Håkan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamariña, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.
Published: 2022
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12. Racial/ethnic differences in the epidemiology of ovarian cancer: a pooled analysis of 12 case-control studies.

Author: Peres, Lauren C, Risch, Harvey, Terry, Kathryn L, Webb, Penelope M, Goodman, Marc T, Wu, Anna H, Alberg, Anthony J, Bandera, Elisa V, Barnholtz-Sloan, Jill, Bondy, Melissa L, Cote, Michele L, Funkhouser, Ellen, Moorman, Patricia G, Peters, Edward S, Schwartz, Ann G, Terry, Paul D, Manichaikul, Ani, Abbott, Sarah E, Camacho, Fabian, Jordan, Susan J, Nagle, Christina M, Australian Ovarian Cancer Study Group, Anne Rossing, Mary, Doherty, Jennifer A, Modugno, Francesmary, Moysich, Kirsten, Ness, Roberta, Berchuck, Andrew, Cook, Linda, Le, Nhu, Brooks-Wilson, Angela, Sieh, Weiva, Whittemore, Alice, McGuire, Valerie, Rothstein, Joseph, Anton-Culver, Hoda, Ziogas, Argyrios, Pearce, Celeste L, Tseng, Chiuchen, Pike, Malcom, Schildkraut, Joellen M, and African American Cancer Epidemiology Study and the Ovarian Cancer Association Consortium
Subjects: Australian Ovarian Cancer Study Group, African American Cancer Epidemiology Study and the Ovarian Cancer Association Consortium, Statistics, Public Health and Health Services, Epidemiology
Published: 2018

13. Polycystic Ovary Syndrome, Oligomenorrhea, and Risk of Ovarian Cancer Histotypes: Evidence from the Ovarian Cancer Association Consortium

Author: Harris, Holly R, Babic, Ana, Webb, Penelope M, Nagle, Christina M, Jordan, Susan J, Group, on behalf of the Australian Ovarian Cancer Study, Risch, Harvey A, Rossing, Mary Anne, Doherty, Jennifer A, Goodman, Marc T, Modugno, Francesmary, Ness, Roberta B, Moysich, Kirsten B, Kjær, Susanne K, Høgdall, Estrid, Jensen, Allan, Schildkraut, Joellen M, Berchuck, Andrew, Cramer, Daniel W, Bandera, Elisa V, Wentzensen, Nicolas, Kotsopoulos, Joanne, Narod, Steven A, Phelan, Catherine M, McLaughlin, John R, Anton-Culver, Hoda, Ziogas, Argyrios, Pearce, Celeste L, Wu, Anna H, Terry, Kathryn L, and Consortium, on behalf of the Ovarian Cancer Association
Subjects: Reproductive Medicine, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Contraception/Reproduction, Rare Diseases, Ovarian Cancer, Clinical Research, Cancer, Infertility, Prevention, Adult, Case-Control Studies, Female, Humans, Logistic Models, Menstrual Cycle, Middle Aged, Odds Ratio, Oligomenorrhea, Ovarian Neoplasms, Polycystic Ovary Syndrome, Risk Factors, Self Report, Time Factors, Ovarian Cancer Association Consortium, Australian Ovarian Cancer Study Group, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract: Background: Polycystic ovary syndrome (PCOS), and one of its distinguishing characteristics, oligomenorrhea, have both been associated with ovarian cancer risk in some but not all studies. However, these associations have been rarely examined by ovarian cancer histotypes, which may explain the lack of clear associations reported in previous studies.Methods: We analyzed data from 14 case-control studies including 16,594 women with invasive ovarian cancer (n = 13,719) or borderline ovarian disease (n = 2,875) and 17,718 controls. Adjusted study-specific ORs were calculated using logistic regression and combined using random-effects meta-analysis. Pooled histotype-specific ORs were calculated using polytomous logistic regression.Results: Women reporting menstrual cycle length >35 days had decreased risk of invasive ovarian cancer compared with women reporting cycle length ≤35 days [OR = 0.70; 95% confidence interval (CI) = 0.58-0.84]. Decreased risk of invasive ovarian cancer was also observed among women who reported irregular menstrual cycles compared with women with regular cycles (OR = 0.83; 95% CI = 0.76-0.89). No significant association was observed between self-reported PCOS and invasive ovarian cancer risk (OR = 0.87; 95% CI = 0.65-1.15). There was a decreased risk of all individual invasive histotypes for women with menstrual cycle length >35 days, but no association with serous borderline tumors (Pheterogeneity = 0.006). Similarly, we observed decreased risks of most invasive histotypes among women with irregular cycles, but an increased risk of borderline serous and mucinous tumors (Pheterogeneity < 0.0001).Conclusions: Our results suggest that menstrual cycle characteristics influence ovarian cancer risk differentially based on histotype.Impact: These results highlight the importance of examining ovarian cancer risk factors associations by histologic subtype. Cancer Epidemiol Biomarkers Prev; 27(2); 174-82. ©2017 AACR.
Published: 2018

14. Offspring sex and risk of epithelial ovarian cancer : a multinational pooled analysis of 12 case–control studies

Author: AOCS Group, Modugno, Francesmary, Fu, Zhuxuan, Jordan, Susan J., Chang-Claude, Jenny, Fortner, Renée T., Goodman, Marc T., Moysich, Kirsten B., Schildkraut, Joellen M., Berchuck, Andrew, Bandera, Elisa V., Qin, Bo, Sutphen, Rebecca, McLaughlin, John R., Menon, Usha, Ramus, Susan J., Gayther, Simon A., Gentry-Maharaj, Aleksandra, Karpinskyj, Chloe, Pearce, Celeste L., Wu, Anna H., Risch, Harvey A., and Webb, Penelope M.
Published: 2020

15. History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium

Author: Minlikeeva, Albina N, Consortium, on behalf of the Ovarian Cancer Association, Freudenheim, Jo L, Eng, Kevin H, Cannioto, Rikki A, Friel, Grace, Szender, J Brian, Segal, Brahm, Odunsi, Kunle, Mayor, Paul, Diergaarde, Brenda, Zsiros, Emese, Kelemen, Linda E, Köbel, Martin, Steed, Helen, deFazio, Anna, Group, on behalf of the Australian Ovarian Cancer Study, Jordan, Susan J, Fasching, Peter A, Beckmann, Matthias W, Risch, Harvey A, Rossing, Mary Anne, Doherty, Jennifer A, Chang-Claude, Jenny, Goodman, Marc T, Dörk, Thilo, Edwards, Robert, Modugno, Francesmary, Ness, Roberta B, Matsuo, Keitaro, Mizuno, Mika, Karlan, Beth Y, Goode, Ellen L, Kjær, Susanne K, Høgdall, Estrid, Schildkraut, Joellen M, Terry, Kathryn L, Cramer, Daniel W, Bandera, Elisa V, Paddock, Lisa E, Kiemeney, Lambertus A, Massuger, Leon FAG, Sutphen, Rebecca, Anton-Culver, Hoda, Ziogas, Argyrios, Menon, Usha, Gayther, Simon A, Ramus, Susan J, Gentry-Maharaj, Aleksandra, Pearce, Celeste L, Wu, Anna H, Kupryjanczyk, Jolanta, Jensen, Allan, Webb, Penelope M, and Moysich, Kirsten B
Subjects: Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Liver Disease, Cancer, Endometriosis, Digestive Diseases, Women's Health, Ovarian Cancer, Rare Diseases, 2.1 Biological and endogenous factors, Comorbidity, Disease-Free Survival, Female, Humans, Ovarian Neoplasms, Survival Analysis, Ovarian Cancer Association Consortium, Australian Ovarian Cancer Study Group, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract: Background: Comorbidities can affect survival of ovarian cancer patients by influencing treatment efficacy. However, little evidence exists on the association between individual concurrent comorbidities and prognosis in ovarian cancer patients.Methods: Among patients diagnosed with invasive ovarian carcinoma who participated in 23 studies included in the Ovarian Cancer Association Consortium, we explored associations between histories of endometriosis; asthma; depression; osteoporosis; and autoimmune, gallbladder, kidney, liver, and neurological diseases and overall and progression-free survival. Using Cox proportional hazards regression models adjusted for age at diagnosis, stage of disease, histology, and study site, we estimated pooled HRs and 95% confidence intervals to assess associations between each comorbidity and ovarian cancer outcomes.Results: None of the comorbidities were associated with ovarian cancer outcome in the overall sample nor in strata defined by histologic subtype, weight status, age at diagnosis, or stage of disease (local/regional vs. advanced).Conclusions: Histories of endometriosis; asthma; depression; osteoporosis; and autoimmune, gallbladder, kidney, liver, or neurologic diseases were not associated with ovarian cancer overall or progression-free survival.Impact: These previously diagnosed chronic diseases do not appear to affect ovarian cancer prognosis. Cancer Epidemiol Biomarkers Prev; 26(9); 1470-3. ©2017 AACR.
Published: 2017

16. Cigarette smoking is associated with adverse survival among women with ovarian cancer: Results from a pooled analysis of 19 studies

Author: Præstegaard, Camilla, Jensen, Allan, Jensen, Signe M, Nielsen, Thor SS, Webb, Penelope M, Nagle, Christina M, DeFazio, Anna, Group, on behalf of the Australian Ovarian Cancer Study, Høgdall, Estrid, Rossing, Mary Anne, Doherty, Jennifer A, Wicklund, Kristine G, Goodman, Marc T, Modugno, Francesmary, Moysich, Kirsten, Ness, Roberta B, Edwards, Robert, Matsuo, Keitaro, Hosono, Satoyo, Goode, Ellen L, Winham, Stacey J, Fridley, Brooke L, Cramer, Daniel W, Terry, Kathryn L, Schildkraut, Joellen M, Berchuck, Andrew, Bandera, Elisa V, Paddock, Lisa E, Massuger, Leon F, Wentzensen, Nicolas, Pharoah, Paul, Song, Honglin, Whittemore, Alice, McGuire, Valerie, Sieh, Weiva, Rothstein, Joseph, Anton‐Culver, Hoda, Ziogas, Argyrios, Menon, Usha, Gayther, Simon A, Ramus, Susan J, Gentry‐Maharaj, Alexandra, Wu, Anna H, Pearce, Celeste L, Pike, Malcolm, Lee, Alice W, Sutphen, Rebecca, Chang‐Claude, Jenny, Risch, Harvey A, Kjaer, Susanne K, and Consortium, on behalf of the Ovarian Cancer Association
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Ovarian Cancer, Tobacco Smoke and Health, Tobacco, Cancer, Rare Diseases, Prevention, Adult, Aged, Aged, 80 and over, Carcinoma, Ovarian Epithelial, Case-Control Studies, Female, Humans, Middle Aged, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Proportional Hazards Models, Risk Factors, Smoking, Young Adult, cigarette smoking, ovarian cancer, survival, pooled analysis, Australian Ovarian Cancer Study Group, Ovarian Cancer Association Consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: Cigarette smoking is associated with an increased risk of developing mucinous ovarian tumors but whether it is associated with ovarian cancer survival overall or for the different histotypes is unestablished. Furthermore, it is unknown whether the association between cigarette smoking and survival differs according to strata of ovarian cancer stage at diagnosis. In a large pooled analysis, we evaluated the association between various measures of cigarette smoking and survival among women with epithelial ovarian cancer. We obtained data from 19 case-control studies in the Ovarian Cancer Association Consortium (OCAC), including 9,114 women diagnosed with ovarian cancer. Cox regression models were used to estimate adjusted study-specific hazard ratios (HRs), which were combined into pooled hazard ratios (pHR) with corresponding 95% confidence intervals (CIs) under random effects models. Overall, 5,149 (57%) women died during a median follow-up period of 7.0 years. Among women diagnosed with ovarian cancer, both current (pHR = 1.17, 95% CI: 1.08-1.28) and former smokers (pHR = 1.10, 95% CI: 1.02-1.18) had worse survival compared with never smoking women. In histotype-stratified analyses, associations were observed for mucinous (current smoking: pHR = 1.91, 95% CI: 1.01-3.65) and serous histotypes (current smoking: pHR = 1.11, 95% CI: 1.00-1.23; former smoking: pHR = 1.12, 95% CI: 1.04-1.20). Further, our results suggested that current smoking has a greater impact on survival among women with localized than disseminated disease. The identification of cigarette smoking as a modifiable factor associated with survival has potential clinical importance as a focus area to improve ovarian cancer prognosis.
Published: 2017

17. Pelvic Inflammatory Disease and the Risk of Ovarian Cancer and Borderline Ovarian Tumors: A Pooled Analysis of 13 Case-Control Studies

Author: Rasmussen, Christina B, Kjaer, Susanne K, Albieri, Vanna, Bandera, Elisa V, Doherty, Jennifer A, Høgdall, Estrid, Webb, Penelope M, Jordan, Susan J, Rossing, Mary Anne, Wicklund, Kristine G, Goodman, Marc T, Modugno, Francesmary, Moysich, Kirsten B, Ness, Roberta B, Edwards, Robert P, Schildkraut, Joellen M, Berchuck, Andrew, Olson, Sara H, Kiemeney, Lambertus A, Massuger, Leon FAG, Narod, Steven A, Phelan, Catherine M, Anton-Culver, Hoda, Ziogas, Argyrios, Wu, Anna H, Pearce, Celeste L, Risch, Harvey A, Jensen, Allan, and Consortium, on behalf of the Ovarian Cancer Association
Subjects: Epidemiology, Health Sciences, Rare Diseases, Clinical Research, Human Genome, Prevention, Ovarian Cancer, Genetics, Cancer, Carcinoma, Ovarian Epithelial, Case-Control Studies, Comorbidity, Contraceptives, Oral, Hormonal, Family Health, Female, Genetic Predisposition to Disease, Hormone Replacement Therapy, Humans, Hysterectomy, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Pelvic Inflammatory Disease, Protective Factors, Reproductive History, Risk Factors, Sterilization, Tubal, Talc, inflammation, neoplasms, histological type, ovarian neoplasms, pelvic inflammatory disease, risk factors, on behalf of the Ovarian Cancer Association Consortium, neoplasms, histological type, Mathematical Sciences, Medical and Health Sciences
Abstract: Inflammation has been implicated in ovarian carcinogenesis. However, studies investigating the association between pelvic inflammatory disease (PID) and ovarian cancer risk are few and inconsistent. We investigated the association between PID and the risk of epithelial ovarian cancer according to tumor behavior and histotype. We pooled data from 13 case-control studies, conducted between 1989 and 2009, from the Ovarian Cancer Association Consortium (OCAC), including 9,162 women with ovarian cancers, 2,354 women with borderline tumors, and 14,736 control participants. Study-specific odds ratios were estimated and subsequently combined into a pooled odds ratio using a random-effects model. A history of PID was associated with an increased risk of borderline tumors (pooled odds ratio (pOR) = 1.32, 95% confidence interval (CI): 1.10, 1.58). Women with at least 2 episodes of PID had a 2-fold increased risk of borderline tumors (pOR = 2.14, 95% CI: 1.08, 4.24). No association was observed between PID and ovarian cancer risk overall (pOR = 0.99, 95% CI: 0.83, 1.19); however, a statistically nonsignificantly increased risk of low-grade serous tumors (pOR = 1.48, 95% CI: 0.92, 2.38) was noted. In conclusion, PID was associated with an increased risk of borderline ovarian tumors, particularly among women who had had multiple episodes of PID. Although our results indicated a histotype-specific association with PID, the association of PID with ovarian cancer risk is still somewhat uncertain and requires further investigation.
Published: 2017

18. Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer

Author: Hampras, Shalaka S, Sucheston-Campbell, Lara E, Cannioto, Rikki, Chang-Claude, Jenny, Modugno, Francesmary, Dörk, Thilo, Hillemanns, Peter, Preus, Leah, Knutson, Keith L, Wallace, Paul K, Hong, Chi-Chen, Friel, Grace, Davis, Warren, Nesline, Mary, Pearce, Celeste L, Kelemen, Linda E, Goodman, Marc T, Bandera, Elisa V, Terry, Kathryn L, Schoof, Nils, Eng, Kevin H, Clay, Alyssa, Singh, Prashant K, Joseph, Janine M, Aben, Katja KH, Anton-Culver, Hoda, Antonenkova, Natalia, Baker, Helen, Bean, Yukie, Beckmann, Matthias W, Bisogna, Maria, Bjorge, Line, Bogdanova, Natalia, Brinton, Louise A, Brooks-Wilson, Angela, Bruinsma, Fiona, Butzow, Ralf, Campbell, Ian G, Carty, Karen, Cook, Linda S, Cramer, Daniel W, Cybulski, Cezary, Dansonka-Mieszkowska, Agnieszka, Dennis, Joe, Despierre, Evelyn, Dicks, Ed, Doherty, Jennifer A, du Bois, Andreas, Dürst, Matthias, Easton, Doug, Eccles, Diana, Edwards, Robert P, Ekici, Arif B, Fasching, Peter A, Fridley, Brooke L, Gao, Yu-Tang, Gentry-Maharaj, Aleksandra, Giles, Graham G, Glasspool, Rosalind, Gronwald, Jacek, Harrington, Patricia, Harter, Philipp, Hasmad, Hanis Nazihah, Hein, Alexander, Heitz, Florian, Hildebrandt, Michelle AT, Hogdall, Claus, Hogdall, Estrid, Hosono, Satoyo, Iversen, Edwin S, Jakubowska, Anna, Jensen, Allan, Ji, Bu-Tian, Karlan, Beth Y, Kellar, Melissa, Kelley, Joseph L, Kiemeney, Lambertus A, Klapdor, Rüdiger, Kolomeyevskaya, Nonna, Krakstad, Camilla, Kjaer, Susanne K, Kruszka, Bridget, Kupryjanczyk, Jolanta, Lambrechts, Diether, Lambrechts, Sandrina, Le, Nhu D, Lee, Alice W, Lele, Shashikant, Leminen, Arto, Lester, Jenny, Levine, Douglas A, Liang, Dong, Lissowska, Jolanta, Liu, Song, Lu, Karen, Lubinski, Jan, Lundvall, Lene, Massuger, Leon FAG, Matsuo, Keitaro, and McGuire, Valeria
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Immunology, Ovarian Cancer, Rare Diseases, Cancer, Genetics, 2.1 Biological and endogenous factors, Aetiology, Adenocarcinoma, Clear Cell, Adult, Aged, Carcinoma, Ovarian Epithelial, Female, Gene Expression Regulation, Neoplastic, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Middle Aged, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases, Receptor, Transforming Growth Factor-beta Type II, Receptors, Transforming Growth Factor beta, Risk Factors, T-Lymphocytes, Regulatory, ovarian cancer, immunosuppression, biomarkers, genetic variation, TGFBR2, TGFBR2, Oncology and carcinogenesis
Abstract: BackgroundRegulatory T (Treg) cells, a subset of CD4+ T lymphocytes, are mediators of immunosuppression in cancer, and, thus, variants in genes encoding Treg cell immune molecules could be associated with ovarian cancer.MethodsIn a population of 15,596 epithelial ovarian cancer (EOC) cases and 23,236 controls, we measured genetic associations of 1,351 SNPs in Treg cell pathway genes with odds of ovarian cancer and tested pathway and gene-level associations, overall and by histotype, for the 25 genes, using the admixture likelihood (AML) method. The most significant single SNP associations were tested for correlation with expression levels in 44 ovarian cancer patients.ResultsThe most significant global associations for all genes in the pathway were seen in endometrioid ( p = 0.082) and clear cell ( p = 0.083), with the most significant gene level association seen with TGFBR2 ( p = 0.001) and clear cell EOC. Gene associations with histotypes at p < 0.05 included: IL12 ( p = 0.005 and p = 0.008, serous and high-grade serous, respectively), IL8RA ( p = 0.035, endometrioid and mucinous), LGALS1 ( p = 0.03, mucinous), STAT5B ( p = 0.022, clear cell), TGFBR1 ( p = 0.021 endometrioid) and TGFBR2 ( p = 0.017 and p = 0.025, endometrioid and mucinous, respectively).ConclusionsCommon inherited gene variation in Treg cell pathways shows some evidence of germline genetic contribution to odds of EOC that varies by histologic subtype and may be associated with mRNA expression of immune-complex receptor in EOC patients.
Published: 2016

19. Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

Author: Permuth, Jennifer B, Pirie, Ailith, Chen, Y Ann, Lin, Hui-Yi, Reid, Brett M, Chen, Zhihua, Monteiro, Alvaro, Dennis, Joe, Mendoza-Fandino, Gustavo, Group, AOCS Study, Study, Australian Cancer, Anton-Culver, Hoda, Bandera, Elisa V, Bisogna, Maria, Brinton, Louise, Brooks-Wilson, Angela, Carney, Michael E, Chenevix-Trench, Georgia, Cook, Linda S, Cramer, Daniel W, Cunningham, Julie M, Cybulski, Cezary, D’Aloisio, Aimee A, Doherty, Jennifer Anne, Earp, Madalene, Edwards, Robert P, Fridley, Brooke L, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Goodman, Marc T, Gronwald, Jacek, Hogdall, Estrid, Iversen, Edwin S, Jakubowska, Anna, Jensen, Allan, Karlan, Beth Y, Kelemen, Linda E, Kjaer, Suzanne K, Kraft, Peter, Le, Nhu D, Levine, Douglas A, Lissowska, Jolanta, Lubinski, Jan, Matsuo, Keitaro, Menon, Usha, Modugno, Rosemary, Moysich, Kirsten B, Nakanishi, Toru, Ness, Roberta B, Olson, Sara, Orlow, Irene, Pearce, Celeste L, Pejovic, Tanja, Poole, Elizabeth M, Ramus, Susan J, Rossing, Mary Anne, Sandler, Dale P, Shu, Xiao-Ou, Song, Honglin, Taylor, Jack A, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, Tworoger, Shelley S, Webb, Penelope M, Wentzensen, Nicolas, Wilkens, Lynne R, Winham, Stacey, Woo, Yin-Ling, Wu, Anna H, Yang, Hannah, Zheng, Wei, Ziogas, Argyrios, Phelan, Catherine M, Schildkraut, Joellen M, Berchuck, Andrew, Goode, Ellen L, Pharoah, Paul DP, Sellers, Thomas A, and Consortium, on behalf of the Ovarian Cancer Association
Subjects: Biological Sciences, Genetics, Rare Diseases, Human Genome, Prevention, Cancer, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Actins, Biotinidase, Carcinoma, Ovarian Epithelial, Exome, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Keratin-13, Neoplasm Proteins, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Receptor, Melanocortin, Type 2, AOCS Study Group, Australian Cancer Study, Ovarian Cancer Association Consortium, Medical and Health Sciences, Genetics & Heredity
Abstract: Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,165 EOC cases and 11,619 controls from the international Ovarian Cancer Association Consortium (OCAC). Pooled association analyses were conducted at the variant and gene level for 98,543 variants directly genotyped through two exome genotyping projects. Only common variants that represent or are in strong linkage disequilibrium (LD) with previously-identified signals at established loci reached traditional thresholds for exome-wide significance (P P≥5.0 ×10 - 7) were detected for rare and low-frequency variants at 16 novel loci. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). Genes most strongly associated with EOC risk included ACTBL2 (PAML = 3.23 × 10 - 5; PSKAT-o = 9.23 × 10 - 4) and KRT13 (PAML = 1.67 × 10 - 4; PSKAT-o = 1.07 × 10 - 5), reaffirming variant-level analysis. In summary, this large study identified several rare and low-frequency variants and genes that may contribute to EOC susceptibility, albeit with possible small effects. Future studies that integrate epidemiology, sequencing, and functional assays are needed to further unravel the unexplained heritability and biology of this disease.
Published: 2016

20. The association between socioeconomic status and tumour stage at diagnosis of ovarian cancer: A pooled analysis of 18 case-control studies

Author: Præstegaard, Camilla, Kjaer, Susanne K, Nielsen, Thor SS, Jensen, Signe M, Webb, Penelope M, Nagle, Christina M, Høgdall, Estrid, Risch, Harvey A, Rossing, Mary Anne, Doherty, Jennifer A, Wicklund, Kristine G, Goodman, Marc T, Modugno, Francesmary, Moysich, Kirsten, Ness, Roberta B, Edwards, Robert P, Goode, Ellen L, Winham, Stacey J, Fridley, Brooke L, Cramer, Daniel W, Terry, Kathryn L, Schildkraut, Joellen M, Berchuck, Andrew, Bandera, Elisa V, Paddock, Lisa, Kiemeney, Lambertus A, Massuger, Leon F, Wentzensen, Nicolas, Pharoah, Paul, Song, Honglin, Whittemore, Alice S, McGuire, Valerie, Sieh, Weiva, Rothstein, Joseph, Anton-Culver, Hoda, Ziogas, Argyrios, Menon, Usha, Gayther, Simon A, Ramus, Susan J, Gentry-Maharaj, Aleksandra, Wu, Anna H, Pearce, Celeste L, Pike, Malcolm C, Lee, Alice W, Chang-Claude, Jenny, Jensen, Allan, and Consortium, Ovarian Cancer Association
Subjects: Biomedical and Clinical Sciences, Epidemiology, Health Services and Systems, Health Sciences, Oncology and Carcinogenesis, Cancer, Ovarian Cancer, Tobacco Smoke and Health, Rare Diseases, Tobacco, Prevention, Aged, Carcinoma, Ovarian Epithelial, Case-Control Studies, Delayed Diagnosis, Female, Humans, Logistic Models, Middle Aged, Neoplasms, Glandular and Epithelial, Odds Ratio, Ovarian Neoplasms, Social Class, Ovarian cancer, Pooled analysis, Socioeconomic status, Tumour stage, Ovarian Cancer Association Consortium, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: PurposeSocioeconomic status (SES) is a known predictor of survival for several cancers and it has been suggested that SES differences affecting tumour stage at diagnosis may be the most important explanatory factor for this. However, only a limited number of studies have investigated SES differences in tumour stage at diagnosis of ovarian cancer. In a pooled analysis, we investigated whether SES as represented by level of education is predictive for advanced tumour stage at diagnosis of ovarian cancer, overall and by histotype. The effect of cigarette smoking and body mass index (BMI) on the association was also evaluated.MethodsFrom 18 case-control studies, we obtained information on 10,601 women diagnosed with epithelial ovarian cancer. Study specific odds ratios (ORs) with corresponding 95% confidence intervals (CI) were obtained from logistic regression models and combined into a pooled odds ratio (pOR) using a random effects model.ResultsOverall, women who completed ≤high school had an increased risk of advanced tumour stage at diagnosis compared with women who completed >high school (pOR 1.15; 95% CI 1.03-1.28). The risk estimates for the different histotypes of ovarian cancer resembled that observed for ovarian cancers combined but did not reach statistical significance. Our results were unchanged when we included BMI and cigarette smoking.ConclusionLower level of education was associated with an increased risk of advanced tumour stage at diagnosis of ovarian cancer. The observed socioeconomic difference in stage at diagnosis of ovarian cancer calls for further studies on how to reduce this diagnostic delay.
Published: 2016

21. Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer

Author: Winham, Stacey J, Pirie, Ailith, Chen, Yian Ann, Larson, Melissa C, Fogarty, Zachary C, Earp, Madalene A, Anton-Culver, Hoda, Bandera, Elisa V, Cramer, Daniel, Doherty, Jennifer A, Goodman, Marc T, Gronwald, Jacek, Karlan, Beth Y, Kjaer, Susanne K, Levine, Douglas A, Menon, Usha, Ness, Roberta B, Pearce, Celeste L, Pejovic, Tanja, Rossing, Mary Anne, Wentzensen, Nicolas, Bean, Yukie T, Bisogna, Maria, Brinton, Louise A, Carney, Michael E, Cunningham, Julie M, Cybulski, Cezary, deFazio, Anna, Dicks, Ed M, Edwards, Robert P, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Gore, Martin, Iversen, Edwin S, Jensen, Allan, Johnatty, Sharon E, Lester, Jenny, Lin, Hui-Yi, Lissowska, Jolanta, Lubinski, Jan, Menkiszak, Janusz, Modugno, Francesmary, Moysich, Kirsten B, Orlow, Irene, Pike, Malcolm C, Ramus, Susan J, Song, Honglin, Terry, Kathryn L, Thompson, Pamela J, Tyrer, Jonathan P, van den Berg, David J, Vierkant, Robert A, Vitonis, Allison F, Walsh, Christine, Wilkens, Lynne R, Wu, Anna H, Yang, Hannah, Ziogas, Argyrios, Berchuck, Andrew, Group, Georgia Chenevix-Trench on behalf of Australian Ovarian Cancer Study, Schildkraut, Joellen M, Permuth-Wey, Jennifer, Phelan, Catherine M, Pharoah, Paul DP, Fridley, Brooke L, Sellers, Thomas A, and Goode, Ellen L
Subjects: Epidemiology, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Cancer, Genetics, Prevention, Clinical Research, Human Genome, Rare Diseases, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Exome, Female, Genotype, Humans, Middle Aged, Ovarian Neoplasms, Survival Rate, Australian Ovarian Cancer Study Group, Medical and Health Sciences, Biomedical and clinical sciences, Health sciences
Abstract: BackgroundWhile numerous susceptibility loci for epithelial ovarian cancer (EOC) have been identified, few associations have been reported with overall survival. In the absence of common prognostic genetic markers, we hypothesize that rare coding variants may be associated with overall EOC survival and assessed their contribution in two exome-based genotyping projects of the Ovarian Cancer Association Consortium (OCAC).MethodsThe primary patient set (Set 1) included 14 independent EOC studies (4,293 patients) and 227,892 variants, and a secondary patient set (Set 2) included six additional EOC studies (1,744 patients) and 114,620 variants. Because power to detect rare variants individually is reduced, gene-level tests were conducted. Sets were analyzed separately at individual variants and by gene, and then combined with meta-analyses (73,203 variants and 13,163 genes overlapped).ResultsNo individual variant reached genome-wide statistical significance. A SNP previously implicated to be associated with EOC risk and, to a lesser extent, survival, rs8170, showed the strongest evidence of association with survival and similar effect size estimates across sets (Pmeta = 1.1E-6, HRSet1 = 1.17, HRSet2 = 1.14). Rare variants in ATG2B, an autophagy gene important for apoptosis, were significantly associated with survival after multiple testing correction (Pmeta = 1.1E-6; Pcorrected = 0.01).ConclusionsCommon variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed.ImpactThis study represents the first exome-wide association study of EOC survival to include rare variant analyses, and suggests that complementary single variant and gene-level analyses in large studies are needed to identify rare variants that warrant follow-up study. Cancer Epidemiol Biomarkers Prev; 25(3); 446-54. ©2016 AACR.
Published: 2016

22. A targeted genetic association study of epithelial ovarian cancer susceptibility

Author: Earp, Madalene, Winham, Stacey J, Larson, Nicholas, Permuth, Jennifer B, Sicotte, Hugues, Chien, Jeremy, Anton-Culver, Hoda, Bandera, Elisa V, Berchuck, Andrew, Cook, Linda S, Cramer, Daniel, Doherty, Jennifer A, Goodman, Marc T, Levine, Douglas A, Monteiro, Alvaro NA, Ness, Roberta B, Pearce, Celeste L, Rossing, Mary Anne, Tworoger, Shelley S, Wentzensen, Nicolas, Bisogna, Maria, Brinton, Louise, Brooks-Wilson, Angela, Carney, Michael E, Cunningham, Julie M, Edwards, Robert P, Fogarty, Zachary C, Iversen, Edwin S, Kraft, Peter, Larson, Melissa C, Le, Nhu D, Lin, Hui-Yi, Lissowska, Jolanta, Modugno, Francesmary, Moysich, Kirsten B, Olson, Sara H, Pike, Malcolm C, Poole, Elizabeth M, Rider, David N, Terry, Kathryn L, Thompson, Pamela J, van den Berg, David, Vierkant, Robert A, Vitonis, Allison F, Wilkens, Lynne R, Wu, Anna H, Yang, Hannah P, Ziogas, Argyrios, Phelan, Catherine M, Schildkraut, Joellen M, Chen, Yian Ann, Sellers, Thomas A, Fridley, Brooke L, and Goode, Ellen L
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prevention, Cancer, Human Genome, Rare Diseases, Ovarian Cancer, Clinical Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Biomarkers, Tumor, Carcinoma, Ovarian Epithelial, Case-Control Studies, Female, Gene Expression Profiling, Genetic Association Studies, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Neoplasm Staging, Neoplasms, Glandular and Epithelial, Oligonucleotide Array Sequence Analysis, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Prognosis, Risk Factors, ovarian cancer, high-grade serous carcinoma, genetic association, susceptibility loci, NF-kappa B, NF-κB, Oncology and carcinogenesis
Abstract: BackgroundGenome-wide association studies have identified several common susceptibility alleles for epithelial ovarian cancer (EOC). To further understand EOC susceptibility, we examined previously ungenotyped candidate variants, including uncommon variants and those residing within known susceptibility loci.ResultsAt nine of eleven previously published EOC susceptibility regions (2q31, 3q25, 5p15, 8q21, 8q24, 10p12, 17q12, 17q21.31, and 19p13), novel variants were identified that were more strongly associated with risk than previously reported variants. Beyond known susceptibility regions, no variants were found to be associated with EOC risk at genome-wide statistical significance (p
Published: 2016

23. Joint exposure to smoking, excessive weight, and physical inactivity and survival of ovarian cancer patients, evidence from the Ovarian Cancer Association Consortium

Author: Minlikeeva, Albina N., Cannioto, Rikki, Jensen, Allan, Kjaer, Susanne K., Jordan, Susan J., Diergaarde, Brenda, Szender, J. Brian, Odunsi, Kunle, Almohanna, Hani, Mayor, Paul, Starbuck, Kirsten, Zsiros, Emese, Bandera, Elisa V., Cramer, Daniel W., Doherty, Jennifer A., DeFazio, Anna, Edwards, Robert, Goode, Ellen L., Goodman, Marc T., Høgdall, Estrid, Matsuo, Keitary, Mizuno, Mika, Nagle, Christina M., Ness, Roberta B., Paddock, Lisa E., Pearce, Celeste L., Risch, Harvey A., Rossing, Mary Anne, Terry, Kathryn L., Wu, Anna H., Modugno, Francesmary, Webb, Penelope M., and Moysich, Kirsten B.
Published: 2019

24. Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium

Author: Johnatty, Sharon E, Group, on behalf of the Australian Ovarian Cancer Study, Tyrer, Jonathan P, Kar, Siddhartha, Beesley, Jonathan, Lu, Yi, Gao, Bo, Fasching, Peter A, Hein, Alexander, Ekici, Arif B, Beckmann, Matthias W, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambrechts, Sandrina, Rossing, Mary Anne, Doherty, Jennifer A, Chang-Claude, Jenny, Modugno, Francesmary, Ness, Roberta B, Moysich, Kirsten B, Levine, Douglas A, Kiemeney, Lambertus A, Massuger, Leon FAG, Gronwald, Jacek, Lubiński, Jan, Jakubowska, Anna, Cybulski, Cezary, Brinton, Louise, Lissowska, Jolanta, Wentzensen, Nicolas, Song, Honglin, Rhenius, Valerie, Campbell, Ian, Eccles, Diana, Sieh, Weiva, Whittemore, Alice S, McGuire, Valerie, Rothstein, Joseph H, Sutphen, Rebecca, Anton-Culver, Hoda, Ziogas, Argyrios, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Menon, Usha, Ramus, Susan J, Pearce, Celeste L, Pike, Malcolm C, Stram, Daniel O, Wu, Anna H, Kupryjanczyk, Jolanta, Dansonka-Mieszkowska, Agnieszka, Rzepecka, Iwona K, Spiewankiewicz, Beata, Goodman, Marc T, Wilkens, Lynne R, Carney, Michael E, Thompson, Pamela J, Heitz, Florian, du Bois, Andreas, Schwaab, Ira, Harter, Philipp, Pisterer, Jacobus, Hillemanns, Peter, Group, on behalf of the AGO Study, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Orsulic, Sandra, Winham, Stacey J, Earp, Madalene, Larson, Melissa C, Fogarty, Zachary C, Høgdall, Estrid, Jensen, Allan, Kjaer, Susanne Kruger, Fridley, Brooke L, Cunningham, Julie M, Vierkant, Robert A, Schildkraut, Joellen M, Iversen, Edwin S, Terry, Kathryn L, Cramer, Daniel W, Bandera, Elisa V, Orlow, Irene, Pejovic, Tanja, Bean, Yukie, Høgdall, Claus, Lundvall, Lene, McNeish, Ian, Paul, James, Carty, Karen, Siddiqui, Nadeem, Glasspool, Rosalind, Sellers, Thomas, Kennedy, Catherine, Chiew, Yoke-Eng, Berchuck, Andrew, MacGregor, Stuart, and Pharoah, Paul DP
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Orphan Drug, Genetics, Human Genome, Precision Medicine, Rare Diseases, Women's Health, Cancer Genomics, Ovarian Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Alleles, Carcinoma, Ovarian Epithelial, Computational Biology, Female, Genome-Wide Association Study, Genotype, Humans, Kaplan-Meier Estimate, Meta-Analysis as Topic, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Patient Outcome Assessment, Polymorphism, Single Nucleotide, Prognosis, Quantitative Trait Loci, AGO Study Group, Australian Ovarian Cancer Study Group, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract: PurposeChemotherapy resistance remains a major challenge in the treatment of ovarian cancer. We hypothesize that germline polymorphisms might be associated with clinical outcome.Experimental designWe analyzed approximately 2.8 million genotyped and imputed SNPs from the iCOGS experiment for progression-free survival (PFS) and overall survival (OS) in 2,901 European epithelial ovarian cancer (EOC) patients who underwent first-line treatment of cytoreductive surgery and chemotherapy regardless of regimen, and in a subset of 1,098 patients treated with ≥ 4 cycles of paclitaxel and carboplatin at standard doses. We evaluated the top SNPs in 4,434 EOC patients, including patients from The Cancer Genome Atlas. In addition, we conducted pathway analysis of all intragenic SNPs and tested their association with PFS and OS using gene set enrichment analysis.ResultsFive SNPs were significantly associated (P ≤ 1.0 × 10(-5)) with poorer outcomes in at least one of the four analyses, three of which, rs4910232 (11p15.3), rs2549714 (16q23), and rs6674079 (1q22), were located in long noncoding RNAs (lncRNAs) RP11-179A10.1, RP11-314O13.1, and RP11-284F21.8, respectively (P ≤ 7.1 × 10(-6)). ENCODE ChIP-seq data at 1q22 for normal ovary show evidence of histone modification around RP11-284F21.8, and rs6674079 is perfectly correlated with another SNP within the super-enhancer MEF2D, expression levels of which were reportedly associated with prognosis in another solid tumor. YAP1- and WWTR1 (TAZ)-stimulated gene expression and high-density lipoprotein (HDL)-mediated lipid transport pathways were associated with PFS and OS, respectively, in the cohort who had standard chemotherapy (pGSEA ≤ 6 × 10(-3)).ConclusionsWe have identified SNPs in three lncRNAs that might be important targets for novel EOC therapies.
Published: 2015

25. Offspring sex and risk of epithelial ovarian cancer: a multinational pooled analysis of 12 case–control studies

Author: Modugno, Francesmary, Fu, Zhuxuan, Jordan, Susan J., Group, AOCS, Chang-Claude, Jenny, Fortner, Renée T., Goodman, Marc T., Moysich, Kirsten B., Schildkraut, Joellen M., Berchuck, Andrew, Bandera, Elisa V., Qin, Bo, Sutphen, Rebecca, McLaughlin, John R., Menon, Usha, Ramus, Susan J., Gayther, Simon A., Gentry-Maharaj, Aleksandra, Karpinskyj, Chloe, Pearce, Celeste L., Wu, Anna H., Risch, Harvey A., and Webb, Penelope M.
Published: 2020
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26. The Essential Epidemiology of Cancer of the Endometrium: An Update

Author: Pike, Malcolm C., Chung, Karine, Olson, Sara, Pearce, Celeste L., Wu, Anna H., Markman, Maurie, Series Editor, Muggia, Franco, editor, Santin, Alessandro D., editor, and Oliva, Esther, editor
Published: 2018
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27. Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Author: Dareng, Eileen O., Tyrer, Jonathan P., Barnes, Daniel R., Jones, Michelle R., Yang, Xin, Aben, Katja K. H., Adank, Muriel A., Agata, Simona, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Arun, Banu K., Augustinsson, Annelie, Balmaña, Judith, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bonanni, Bernardo, Borg, Ake, Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Cassingham, Hayley, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chiew, Yoke-Eng, Chung, Wendy K., Claes, Kathleen B. M., Colonna, Sarah, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Høgdall, Estrid, Høgdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th., John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., Matsuno, Rayna Kim, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo I., Olson, Sara H., Olsson, Håkan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamariña, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.
Published: 2022
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28. Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk.

Author: Kelemen, Linda E, Terry, Kathryn L, Goodman, Marc T, Webb, Penelope M, Bandera, Elisa V, McGuire, Valerie, Rossing, Mary Anne, Wang, Qinggang, Dicks, Ed, Tyrer, Jonathan P, Song, Honglin, Kupryjanczyk, Jolanta, Dansonka-Mieszkowska, Agnieszka, Plisiecka-Halasa, Joanna, Timorek, Agnieszka, Menon, Usha, Gentry-Maharaj, Aleksandra, Gayther, Simon A, Ramus, Susan J, Narod, Steven A, Risch, Harvey A, McLaughlin, John R, Siddiqui, Nadeem, Glasspool, Rosalind, Paul, James, Carty, Karen, Gronwald, Jacek, Lubiński, Jan, Jakubowska, Anna, Cybulski, Cezary, Kiemeney, Lambertus A, Massuger, Leon FAG, van Altena, Anne M, Aben, Katja KH, Olson, Sara H, Orlow, Irene, Cramer, Daniel W, Levine, Douglas A, Bisogna, Maria, Giles, Graham G, Southey, Melissa C, Bruinsma, Fiona, Kjaer, Susanne K, Høgdall, Estrid, Jensen, Allan, Høgdall, Claus K, Lundvall, Lene, Engelholm, Svend-Aage, Heitz, Florian, du Bois, Andreas, Harter, Philipp, Schwaab, Ira, Butzow, Ralf, Nevanlinna, Heli, Pelttari, Liisa M, Leminen, Arto, Thompson, Pamela J, Lurie, Galina, Wilkens, Lynne R, Lambrechts, Diether, Van Nieuwenhuysen, Els, Lambrechts, Sandrina, Vergote, Ignace, Beesley, Jonathan, AOCS Study Group/ACS Investigators, Fasching, Peter A, Beckmann, Matthias W, Hein, Alexander, Ekici, Arif B, Doherty, Jennifer A, Wu, Anna H, Pearce, Celeste L, Pike, Malcolm C, Stram, Daniel, Chang-Claude, Jenny, Rudolph, Anja, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter, Runnebaum, Ingo B, Bogdanova, Natalia, Antonenkova, Natalia, Odunsi, Kunle, Edwards, Robert P, Kelley, Joseph L, Modugno, Francesmary, Ness, Roberta B, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Orsulic, Sandra, Fridley, Brooke L, Vierkant, Robert A, Cunningham, Julie M, Wu, Xifeng, Lu, Karen, Liang, Dong, Hildebrandt, Michelle AT, Weber, Rachel Palmieri, and Iversen, Edwin S
Subjects: AOCS Study Group/ACS Investigators, Humans, Carcinoma, Ovarian Neoplasms, Folic Acid Deficiency, Genetic Predisposition to Disease, Folic Acid, Dihydrouracil Dehydrogenase (NADP), Neoplasm Proteins, Diet, Multivariate Analysis, Risk Factors, Case-Control Studies, Energy Intake, Polymorphism, Single Nucleotide, Dietary Supplements, European Continental Ancestry Group, Female, Genome-Wide Association Study, Global Health, Case-control, Dihydropyrimidine dehydrogenase, Folate, Polymorphism, Serine hydroxymethyltransferase 1, Rare Diseases, Cancer, Ovarian Cancer, Genetics, Nutrition, 2.1 Biological and endogenous factors, Nutrition & Dietetics, Food Science, Food Sciences, Nutrition and Dietetics, Public Health and Health Services
Abstract: ScopeWe reevaluated previously reported associations between variants in pathways of one-carbon (1-C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with folate intake.Methods and resultsOdds ratios (OR) for 446 genetic variants were estimated among 13,410 OC cases and 22,635 controls, and among 2281 cases and 3444 controls with folate information. Following multiple testing correction, the most significant main effect associations were for dihydropyrimidine dehydrogenase (DPYD) variants rs11587873 (OR = 0.92; p = 6 × 10⁻⁵) and rs828054 (OR = 1.06; p = 1 × 10⁻⁴). Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted significantly with folate in a multivariant analysis (corrected p = 9.9 × 10⁻⁶) but collectively explained only 0.2% of OC risk. Although no other associations were significant after multiple testing correction, variants in SHMT1 in 1-C transfer, previously reported with OC, suggested lower risk at higher folate (p(interaction) = 0.03-0.006).ConclusionVariation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. SHMT1 SNP-by-folate interactions are plausible but require further validation. Polymorphisms in selected genes in purine metabolism were not associated with OC.
Published: 2014

29. Antiretroviral therapy modifies the genetic effect of known type 2 diabetes-associated risk variants in HIV-infected women

Author: Frasco, Melissa A, Karim, Roksana, Van Den Berg, David, Watanabe, Richard M, Anastos, Kathryn, Cohen, Mardge, Gange, Stephen J, Gustafson, Deborah R, Liu, Chenglong, Tien, Phyllis C, Mack, Wendy J, and Pearce, Celeste L
Subjects: Medical Microbiology, Biomedical and Clinical Sciences, Health Sciences, Genetics, HIV/AIDS, Diabetes, Infectious Diseases, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Metabolic and endocrine, Infection, Adolescent, Adult, Aged, Aged, 80 and over, Anti-Retroviral Agents, Antiretroviral Therapy, Highly Active, Cohort Studies, Diabetes Mellitus, Type 2, Ethnicity, Female, Genetic Predisposition to Disease, HIV Infections, Humans, Middle Aged, Prospective Studies, Risk Assessment, Young Adult, antiretroviral therapy, genetics, HIV, type 2 diabetes, women, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Virology, Biomedical and clinical sciences, Health sciences
Abstract: ObjectiveType 2 diabetes mellitus incidence is increased in HIV-infected persons. We examined the associations of diabetes mellitus with known diabetes mellitus-risk alleles from the general population in the context of HIV infection, and explored effect modification by combination antiretroviral therapy (cART).MethodsThe Women's Interagency HIV Study is a prospective cohort of HIV-infected women. Seventeen European-derived diabetes mellitus-risk polymorphisms were genotyped in the eligible participants of the Women's Interagency HIV Study. Analyses were run separately for non-African Americans (Whites, Hispanics, Asians, and other; n = 378, 49 with incident diabetes mellitus) and African Americans (n = 591, 49 with incident diabetes mellitus). Cox proportional-hazards models were fit to estimate hazard ratios for diabetes mellitus overall and within strata of cART.ResultsIn non-African Americans, heterogeneity across cART regimen was observed for nine of the 14 polymorphisms (phet
Published: 2014

30. Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine

Author: Frasco, Melissa A, Mack, Wendy J, Van Den Berg, David, Aouizerat, Bradley E, Anastos, Kathryn, Cohen, Mardge, De Hovitz, Jack, Golub, Elizabeth T, Greenblatt, Ruth M, Liu, Chenglong, Conti, David V, and Pearce, Celeste L
Subjects: Biomedical and Clinical Sciences, Genetics, Clinical Research, Acquired Immunodeficiency Syndrome, Alkynes, Anti-HIV Agents, Aryl Hydrocarbon Hydroxylases, Benzoxazines, Cyclopropanes, Cytochrome P-450 CYP2B6, Female, Genetic Variation, Genotype, Humans, Nevirapine, Oxidoreductases, N-Demethylating, Polymorphism, Single Nucleotide, United States, Viral Load, confounding, CYP2B6, nonnucleoside reverse transcriptase inhibitors, population substructure, women, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Virology, Biomedical and clinical sciences, Health sciences
Abstract: ObjectiveCYP2B6 variation predicts pharmacokinetic characteristics of its substrates. Consideration for underlying genetic structure is critical to protect against spurious associations with the highly polymorphic CYP2B6 gene.DesignThe effect of CYP2B6 variation on response to its substrates, nonnucleoside reverse transcriptase inhibitors (NNRTIs), was explored in the Women's Interagency HIV Study.MethodsFive putative functional polymorphisms were tested for associations with virologic suppression within 1 year after NNRTI initiation in women naive to antiretroviral agents (n = 91). Principal components were generated to control for population substructure. Logistic regression was used to test the joint effect of rs3745274 and rs28399499, which together indicate slow, intermediate, and extensive metabolizers.ResultsRs3745274 was significantly associated with virologic suppression [odds ratio = 3.61, 95% confidence interval (CI) 1.16-11.22, P trend = 0.03]; the remaining polymorphisms tested were not significantly associated with response. Women classified as intermediate and slow metabolizers were 2.90 (95% CI 0.79-12.28) and 13.44 (95% CI 1.66 to infinity) times as likely to achieve virologic suppression compared to extensive metabolizers after adjustment for principal components (P trend = 0.005). Failure to control for genetic ancestry resulted in substantial confounding of the relationship between the metabolizer phenotype and treatment response.ConclusionThe CYP2B6 metabolizer phenotype was significantly associated with virologic response to NNRTIs; this relationship would have been masked by simple adjustment for self-reported ethnicity. Given the appreciable genetic heterogeneity that exists within self-reported ethnicity, these results exemplify the importance of characterizing underlying genetic structure in pharmacogenetic studies. Further follow-up of the CYP2B6 metabolizer phenotype is warranted, given the potential clinical importance of this finding.
Published: 2012

31. Evaluation of Candidate Stromal Epithelial Cross-Talk Genes Identifies Association between Risk of Serous Ovarian Cancer and TERT, a Cancer Susceptibility â��Hot-Spotâ��

Author: Johnatty, Sharon E, Beesley, Jonathan, Chen, Xiaoqing, Macgregor, Stuart, Duffy, David L, Spurdle, Amanda B, deFazio, Anna, Gava, Natalie, Webb, Penelope M, Rossing, Mary Anne, Doherty, Jennifer Anne, Goodman, Marc T, Lurie, Galina, Thompson, Pamela J, Wilkens, Lynne R, Ness, Roberta B, Moysich, Kirsten B, Chang-Claude, Jenny, Wang-Gohrke, Shan, Cramer, Daniel W, Terry, Kathryn L, Hankinson, Susan E, Tworoger, Shelley S, Garcia-Closas, Montserrat, Yang, Hannah, Lissowska, Jolanta, Chanock, Stephen J, Pharoah, Paul D, Song, Honglin, Whitemore, Alice S, Pearce, Celeste L, Stram, Daniel O, Wu, Anna H, Pike, Malcolm C, Gayther, Simon A, Ramus, Susan J, Menon, Usha, Gentry-Maharaj, Aleksandra, Anton-Culver, Hoda, Ziogas, Argyrios, Hogdall, Estrid, Kjaer, Susanne K, Hogdall, Claus, Berchuck, Andrew, Schildkraut, Joellen M, Iversen, Edwin S, Moorman, Patricia G, Phelan, Catherine M, Sellers, Thomas A, Cunningham, Julie M, Vierkant, Robert A, Rider, David N, Goode, Ellen L, Haviv, Izhak, Chenevix-Trench, Georgia, Dermitzakis, Emmanouil T, and Ovarian Cancer Association Consortium", .
Subjects: genome-wide association, single-nucleotide polymorphisms, incessant ovulation, colorectal-cancer, expression, consortium, variants, prostate, locus, myc
Abstract: We hypothesized that variants in genes expressed as a consequence of interactions between ovarian cancer cells and the host micro-environment could contribute to cancer susceptibility. We therefore used a two-stage approach to evaluate common single nucleotide polymorphisms (SNPs) in 173 genes involved in stromal epithelial interactions in the Ovarian Cancer Association Consortium (OCAC). In the discovery stage, cases with epithelial ovarian cancer (n = 675) and controls (n = 1,162) were genotyped at 1,536 SNPs using an Illumina GoldenGate assay. Based on Positive Predictive Value estimates, three SNPs-PODXL rs1013368, ITGA6 rs13027811, and MMP3 rs522616-were selected for replication using TaqMan genotyping in up to 3,059 serous invasive cases and 8,905 controls from 16 OCAC case-control studies. An additional 18 SNPs with P(per-allele)= 0.5). However genotypes at TERT rs7726159 were associated with ovarian cancer risk in the smaller, five-study replication study (P(per-allele)=0.03). Combined analysis of the discovery and replication sets for this TERT SNP showed an increased risk of serous ovarian cancer among non-Hispanic whites [adj. OR(per-allele) 1.14 (1.04-1.24) p = 0.003]. Our study adds to the growing evidence that, like the 8q24 locus, the telomerase reverse transcriptase locus at 5p15.33, is a general cancer susceptibility locus.
Published: 2010

32. Figure S6A from Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer

Author: Winham, Stacey J., primary, Pirie, Ailith, primary, Chen, Yian Ann, primary, Larson, Melissa C., primary, Fogarty, Zachary C., primary, Earp, Madalene A., primary, Anton-Culver, Hoda, primary, Bandera, Elisa V., primary, Cramer, Daniel, primary, Doherty, Jennifer A., primary, Goodman, Marc T., primary, Gronwald, Jacek, primary, Karlan, Beth Y., primary, Kjaer, Susanne K., primary, Levine, Douglas A., primary, Menon, Usha, primary, Ness, Roberta B., primary, Pearce, Celeste L., primary, Pejovic, Tanja, primary, Rossing, Mary Anne, primary, Wentzensen, Nicolas, primary, Bean, Yukie T., primary, Bisogna, Maria, primary, Brinton, Louise A., primary, Carney, Michael E., primary, Cunningham, Julie M., primary, Cybulski, Cezary, primary, deFazio, Anna, primary, Dicks, Ed M., primary, Edwards, Robert P., primary, Gayther, Simon A., primary, Gentry-Maharaj, Aleksandra, primary, Gore, Martin, primary, Iversen, Edwin S., primary, Jensen, Allan, primary, Johnatty, Sharon E., primary, Lester, Jenny, primary, Lin, Hui-Yi, primary, Lissowska, Jolanta, primary, Lubinski, Jan, primary, Menkiszak, Janusz, primary, Modugno, Francesmary, primary, Moysich, Kirsten B., primary, Orlow, Irene, primary, Pike, Malcolm C., primary, Ramus, Susan J., primary, Song, Honglin, primary, Terry, Kathryn L., primary, Thompson, Pamela J., primary, Tyrer, Jonathan P., primary, van den Berg, David J., primary, Vierkant, Robert A., primary, Vitonis, Allison F., primary, Walsh, Christine, primary, Wilkens, Lynne R., primary, Wu, Anna H., primary, Yang, Hannah, primary, Ziogas, Argyrios, primary, Berchuck, Andrew, primary, Schildkraut, Joellen M., primary, Permuth-Wey, Jennifer, primary, Phelan, Catherine M., primary, Pharoah, Paul D.P., primary, Fridley, Brooke L., primary, Sellers, Thomas A., primary, and Goode, Ellen L., primary
Published: 2023
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33. Supplemental Figure Legends from Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer

Author: Winham, Stacey J., primary, Pirie, Ailith, primary, Chen, Yian Ann, primary, Larson, Melissa C., primary, Fogarty, Zachary C., primary, Earp, Madalene A., primary, Anton-Culver, Hoda, primary, Bandera, Elisa V., primary, Cramer, Daniel, primary, Doherty, Jennifer A., primary, Goodman, Marc T., primary, Gronwald, Jacek, primary, Karlan, Beth Y., primary, Kjaer, Susanne K., primary, Levine, Douglas A., primary, Menon, Usha, primary, Ness, Roberta B., primary, Pearce, Celeste L., primary, Pejovic, Tanja, primary, Rossing, Mary Anne, primary, Wentzensen, Nicolas, primary, Bean, Yukie T., primary, Bisogna, Maria, primary, Brinton, Louise A., primary, Carney, Michael E., primary, Cunningham, Julie M., primary, Cybulski, Cezary, primary, deFazio, Anna, primary, Dicks, Ed M., primary, Edwards, Robert P., primary, Gayther, Simon A., primary, Gentry-Maharaj, Aleksandra, primary, Gore, Martin, primary, Iversen, Edwin S., primary, Jensen, Allan, primary, Johnatty, Sharon E., primary, Lester, Jenny, primary, Lin, Hui-Yi, primary, Lissowska, Jolanta, primary, Lubinski, Jan, primary, Menkiszak, Janusz, primary, Modugno, Francesmary, primary, Moysich, Kirsten B., primary, Orlow, Irene, primary, Pike, Malcolm C., primary, Ramus, Susan J., primary, Song, Honglin, primary, Terry, Kathryn L., primary, Thompson, Pamela J., primary, Tyrer, Jonathan P., primary, van den Berg, David J., primary, Vierkant, Robert A., primary, Vitonis, Allison F., primary, Walsh, Christine, primary, Wilkens, Lynne R., primary, Wu, Anna H., primary, Yang, Hannah, primary, Ziogas, Argyrios, primary, Berchuck, Andrew, primary, Schildkraut, Joellen M., primary, Permuth-Wey, Jennifer, primary, Phelan, Catherine M., primary, Pharoah, Paul D.P., primary, Fridley, Brooke L., primary, Sellers, Thomas A., primary, and Goode, Ellen L., primary
Published: 2023
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34. Supplementary Tables 1-2 from Genetic Variation in TYMS in the One-Carbon Transfer Pathway Is Associated with Ovarian Carcinoma Types in the Ovarian Cancer Association Consortium

Author: Kelemen, Linda E., primary, Goodman, Marc T., primary, McGuire, Valerie, primary, Rossing, Mary Anne, primary, Webb, Penelope M., primary, Köbel, Martin, primary, Anton-Culver, Hoda, primary, Beesley, Jonathan, primary, Berchuck, Andrew, primary, Brar, Sony, primary, Carney, Michael E., primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cramer, Daniel W., primary, Cunningham, Julie M., primary, DiCioccio, Richard A., primary, Doherty, Jennifer A., primary, Easton, Douglas F., primary, Fredericksen, Zachary S., primary, Fridley, Brooke L., primary, Gates, Margaret A., primary, Gayther, Simon A., primary, Gentry-Maharaj, Aleksandra, primary, Høgdall, Estrid, primary, Kjær, Susanne Krüger, primary, Lurie, Galina, primary, Menon, Usha, primary, Moorman, Patricia G., primary, Moysich, Kirsten, primary, Ness, Roberta B., primary, Palmieri, Rachel T., primary, Pearce, Celeste L., primary, Pharoah, Paul D.P., primary, Ramus, Susan J., primary, Song, Honglin, primary, Stram, Daniel O., primary, Tworoger, Shelley S., primary, Van Den Berg, David, primary, Vierkant, Robert A., primary, Wang-Gohrke, Shan, primary, Whittemore, Alice S., primary, Wilkens, Lynne R., primary, Wu, Anna H., primary, Schildkraut, Joellen M., primary, Sellers, Thomas A., primary, and Goode, Ellen L., primary
Published: 2023
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35. Supplemental Tables from Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer

Author: Winham, Stacey J., primary, Pirie, Ailith, primary, Chen, Yian Ann, primary, Larson, Melissa C., primary, Fogarty, Zachary C., primary, Earp, Madalene A., primary, Anton-Culver, Hoda, primary, Bandera, Elisa V., primary, Cramer, Daniel, primary, Doherty, Jennifer A., primary, Goodman, Marc T., primary, Gronwald, Jacek, primary, Karlan, Beth Y., primary, Kjaer, Susanne K., primary, Levine, Douglas A., primary, Menon, Usha, primary, Ness, Roberta B., primary, Pearce, Celeste L., primary, Pejovic, Tanja, primary, Rossing, Mary Anne, primary, Wentzensen, Nicolas, primary, Bean, Yukie T., primary, Bisogna, Maria, primary, Brinton, Louise A., primary, Carney, Michael E., primary, Cunningham, Julie M., primary, Cybulski, Cezary, primary, deFazio, Anna, primary, Dicks, Ed M., primary, Edwards, Robert P., primary, Gayther, Simon A., primary, Gentry-Maharaj, Aleksandra, primary, Gore, Martin, primary, Iversen, Edwin S., primary, Jensen, Allan, primary, Johnatty, Sharon E., primary, Lester, Jenny, primary, Lin, Hui-Yi, primary, Lissowska, Jolanta, primary, Lubinski, Jan, primary, Menkiszak, Janusz, primary, Modugno, Francesmary, primary, Moysich, Kirsten B., primary, Orlow, Irene, primary, Pike, Malcolm C., primary, Ramus, Susan J., primary, Song, Honglin, primary, Terry, Kathryn L., primary, Thompson, Pamela J., primary, Tyrer, Jonathan P., primary, van den Berg, David J., primary, Vierkant, Robert A., primary, Vitonis, Allison F., primary, Walsh, Christine, primary, Wilkens, Lynne R., primary, Wu, Anna H., primary, Yang, Hannah, primary, Ziogas, Argyrios, primary, Berchuck, Andrew, primary, Schildkraut, Joellen M., primary, Permuth-Wey, Jennifer, primary, Phelan, Catherine M., primary, Pharoah, Paul D.P., primary, Fridley, Brooke L., primary, Sellers, Thomas A., primary, and Goode, Ellen L., primary
Published: 2023
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36. Supplemental Methods from Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci

Author: Reid, Brett M., primary, Permuth, Jennifer B., primary, Chen, Y. Ann, primary, Teer, Jamie K., primary, Monteiro, Alvaro N.A., primary, Chen, Zhihua, primary, Tyrer, Jonathan, primary, Berchuck, Andrew, primary, Chenevix-Trench, Georgia, primary, Doherty, Jennifer A., primary, Goode, Ellen L., primary, Iverson, Edwin S., primary, Lawrenson, Kate, primary, Pearce, Celeste L., primary, Pharoah, Paul D., primary, Phelan, Catherine M., primary, Ramus, Susan J., primary, Rossing, Mary Anne, primary, Schildkraut, Joellen M., primary, Cheng, Jin Q., primary, Gayther, Simon A., primary, and Sellers, Thomas A., primary
Published: 2023
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37. Data from Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer

Author: Winham, Stacey J., primary, Pirie, Ailith, primary, Chen, Yian Ann, primary, Larson, Melissa C., primary, Fogarty, Zachary C., primary, Earp, Madalene A., primary, Anton-Culver, Hoda, primary, Bandera, Elisa V., primary, Cramer, Daniel, primary, Doherty, Jennifer A., primary, Goodman, Marc T., primary, Gronwald, Jacek, primary, Karlan, Beth Y., primary, Kjaer, Susanne K., primary, Levine, Douglas A., primary, Menon, Usha, primary, Ness, Roberta B., primary, Pearce, Celeste L., primary, Pejovic, Tanja, primary, Rossing, Mary Anne, primary, Wentzensen, Nicolas, primary, Bean, Yukie T., primary, Bisogna, Maria, primary, Brinton, Louise A., primary, Carney, Michael E., primary, Cunningham, Julie M., primary, Cybulski, Cezary, primary, deFazio, Anna, primary, Dicks, Ed M., primary, Edwards, Robert P., primary, Gayther, Simon A., primary, Gentry-Maharaj, Aleksandra, primary, Gore, Martin, primary, Iversen, Edwin S., primary, Jensen, Allan, primary, Johnatty, Sharon E., primary, Lester, Jenny, primary, Lin, Hui-Yi, primary, Lissowska, Jolanta, primary, Lubinski, Jan, primary, Menkiszak, Janusz, primary, Modugno, Francesmary, primary, Moysich, Kirsten B., primary, Orlow, Irene, primary, Pike, Malcolm C., primary, Ramus, Susan J., primary, Song, Honglin, primary, Terry, Kathryn L., primary, Thompson, Pamela J., primary, Tyrer, Jonathan P., primary, van den Berg, David J., primary, Vierkant, Robert A., primary, Vitonis, Allison F., primary, Walsh, Christine, primary, Wilkens, Lynne R., primary, Wu, Anna H., primary, Yang, Hannah, primary, Ziogas, Argyrios, primary, Berchuck, Andrew, primary, Schildkraut, Joellen M., primary, Permuth-Wey, Jennifer, primary, Phelan, Catherine M., primary, Pharoah, Paul D.P., primary, Fridley, Brooke L., primary, Sellers, Thomas A., primary, and Goode, Ellen L., primary
Published: 2023
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38. Supplemental Table 1 from History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium

Author: Minlikeeva, Albina N., primary, Freudenheim, Jo L., primary, Eng, Kevin H., primary, Cannioto, Rikki A., primary, Friel, Grace, primary, Szender, J. Brian, primary, Segal, Brahm, primary, Odunsi, Kunle, primary, Mayor, Paul, primary, Diergaarde, Brenda, primary, Zsiros, Emese, primary, Kelemen, Linda E., primary, Köbel, Martin, primary, Steed, Helen, primary, deFazio, Anna, primary, Jordan, Susan J., primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Risch, Harvey A., primary, Rossing, Mary Anne, primary, Doherty, Jennifer A., primary, Chang-Claude, Jenny, primary, Goodman, Marc T., primary, Dörk, Thilo, primary, Edwards, Robert, primary, Modugno, Francesmary, primary, Ness, Roberta B., primary, Matsuo, Keitaro, primary, Mizuno, Mika, primary, Karlan, Beth Y., primary, Goode, Ellen L., primary, Kjær, Susanne K., primary, Høgdall, Estrid, primary, Schildkraut, Joellen M., primary, Terry, Kathryn L., primary, Cramer, Daniel W., primary, Bandera, Elisa V., primary, Paddock, Lisa E., primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Sutphen, Rebecca, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Menon, Usha, primary, Gayther, Simon A., primary, Ramus, Susan J., primary, Gentry-Maharaj, Aleksandra, primary, Pearce, Celeste L., primary, Wu, Anna H., primary, Kupryjanczyk, Jolanta, primary, Jensen, Allan, primary, Webb, Penelope M., primary, and Moysich, Kirsten B., primary
Published: 2023
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39. Data from History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium

Author: Minlikeeva, Albina N., primary, Freudenheim, Jo L., primary, Eng, Kevin H., primary, Cannioto, Rikki A., primary, Friel, Grace, primary, Szender, J. Brian, primary, Segal, Brahm, primary, Odunsi, Kunle, primary, Mayor, Paul, primary, Diergaarde, Brenda, primary, Zsiros, Emese, primary, Kelemen, Linda E., primary, Köbel, Martin, primary, Steed, Helen, primary, deFazio, Anna, primary, Jordan, Susan J., primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Risch, Harvey A., primary, Rossing, Mary Anne, primary, Doherty, Jennifer A., primary, Chang-Claude, Jenny, primary, Goodman, Marc T., primary, Dörk, Thilo, primary, Edwards, Robert, primary, Modugno, Francesmary, primary, Ness, Roberta B., primary, Matsuo, Keitaro, primary, Mizuno, Mika, primary, Karlan, Beth Y., primary, Goode, Ellen L., primary, Kjær, Susanne K., primary, Høgdall, Estrid, primary, Schildkraut, Joellen M., primary, Terry, Kathryn L., primary, Cramer, Daniel W., primary, Bandera, Elisa V., primary, Paddock, Lisa E., primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Sutphen, Rebecca, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Menon, Usha, primary, Gayther, Simon A., primary, Ramus, Susan J., primary, Gentry-Maharaj, Aleksandra, primary, Pearce, Celeste L., primary, Wu, Anna H., primary, Kupryjanczyk, Jolanta, primary, Jensen, Allan, primary, Webb, Penelope M., primary, and Moysich, Kirsten B., primary
Published: 2023
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40. Supplementary Figures 1-5, Tables 1-8 from Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium

Author: Johnatty, Sharon E., primary, Tyrer, Jonathan P., primary, Kar, Siddhartha, primary, Beesley, Jonathan, primary, Lu, Yi, primary, Gao, Bo, primary, Fasching, Peter A., primary, Hein, Alexander, primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Lambrechts, Diether, primary, Van Nieuwenhuysen, Els, primary, Vergote, Ignace, primary, Lambrechts, Sandrina, primary, Rossing, Mary Anne, primary, Doherty, Jennifer A., primary, Chang-Claude, Jenny, primary, Modugno, Francesmary, primary, Ness, Roberta B., primary, Moysich, Kirsten B., primary, Levine, Douglas A., primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Gronwald, Jacek, primary, Lubiński, Jan, primary, Jakubowska, Anna, primary, Cybulski, Cezary, primary, Brinton, Louise, primary, Lissowska, Jolanta, primary, Wentzensen, Nicolas, primary, Song, Honglin, primary, Rhenius, Valerie, primary, Campbell, Ian, primary, Eccles, Diana, primary, Sieh, Weiva, primary, Whittemore, Alice S., primary, McGuire, Valerie, primary, Rothstein, Joseph H., primary, Sutphen, Rebecca, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Gayther, Simon A., primary, Gentry-Maharaj, Aleksandra, primary, Menon, Usha, primary, Ramus, Susan J., primary, Pearce, Celeste L., primary, Pike, Malcolm C., primary, Stram, Daniel O., primary, Wu, Anna H., primary, Kupryjanczyk, Jolanta, primary, Dansonka-Mieszkowska, Agnieszka, primary, Rzepecka, Iwona K., primary, Spiewankiewicz, Beata, primary, Goodman, Marc T., primary, Wilkens, Lynne R., primary, Carney, Michael E., primary, Thompson, Pamela J., primary, Heitz, Florian, primary, du Bois, Andreas, primary, Schwaab, Ira, primary, Harter, Philipp, primary, Pisterer, Jacobus, primary, Hillemanns, Peter, primary, Karlan, Beth Y., primary, Walsh, Christine, primary, Lester, Jenny, primary, Orsulic, Sandra, primary, Winham, Stacey J., primary, Earp, Madalene, primary, Larson, Melissa C., primary, Fogarty, Zachary C., primary, Høgdall, Estrid, primary, Jensen, Allan, primary, Kjaer, Susanne Kruger, primary, Fridley, Brooke L., primary, Cunningham, Julie M., primary, Vierkant, Robert A., primary, Schildkraut, Joellen M., primary, Iversen, Edwin S., primary, Terry, Kathryn L., primary, Cramer, Daniel W., primary, Bandera, Elisa V., primary, Orlow, Irene, primary, Pejovic, Tanja, primary, Bean, Yukie, primary, Høgdall, Claus, primary, Lundvall, Lene, primary, McNeish, Ian, primary, Paul, James, primary, Carty, Karen, primary, Siddiqui, Nadeem, primary, Glasspool, Rosalind, primary, Sellers, Thomas, primary, Kennedy, Catherine, primary, Chiew, Yoke-Eng, primary, Berchuck, Andrew, primary, MacGregor, Stuart, primary, Pharoah, Paul D.P., primary, Goode, Ellen L., primary, deFazio, Anna, primary, Webb, Penelope M., primary, and Chenevix-Trench, Georgia, primary
Published: 2023
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41. Data from Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci

Author: Reid, Brett M., primary, Permuth, Jennifer B., primary, Chen, Y. Ann, primary, Teer, Jamie K., primary, Monteiro, Alvaro N.A., primary, Chen, Zhihua, primary, Tyrer, Jonathan, primary, Berchuck, Andrew, primary, Chenevix-Trench, Georgia, primary, Doherty, Jennifer A., primary, Goode, Ellen L., primary, Iverson, Edwin S., primary, Lawrenson, Kate, primary, Pearce, Celeste L., primary, Pharoah, Paul D., primary, Phelan, Catherine M., primary, Ramus, Susan J., primary, Rossing, Mary Anne, primary, Schildkraut, Joellen M., primary, Cheng, Jin Q., primary, Gayther, Simon A., primary, and Sellers, Thomas A., primary
Published: 2023
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42. Data from Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium

Author: Johnatty, Sharon E., primary, Tyrer, Jonathan P., primary, Kar, Siddhartha, primary, Beesley, Jonathan, primary, Lu, Yi, primary, Gao, Bo, primary, Fasching, Peter A., primary, Hein, Alexander, primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Lambrechts, Diether, primary, Van Nieuwenhuysen, Els, primary, Vergote, Ignace, primary, Lambrechts, Sandrina, primary, Rossing, Mary Anne, primary, Doherty, Jennifer A., primary, Chang-Claude, Jenny, primary, Modugno, Francesmary, primary, Ness, Roberta B., primary, Moysich, Kirsten B., primary, Levine, Douglas A., primary, Kiemeney, Lambertus A., primary, Massuger, Leon F.A.G., primary, Gronwald, Jacek, primary, Lubiński, Jan, primary, Jakubowska, Anna, primary, Cybulski, Cezary, primary, Brinton, Louise, primary, Lissowska, Jolanta, primary, Wentzensen, Nicolas, primary, Song, Honglin, primary, Rhenius, Valerie, primary, Campbell, Ian, primary, Eccles, Diana, primary, Sieh, Weiva, primary, Whittemore, Alice S., primary, McGuire, Valerie, primary, Rothstein, Joseph H., primary, Sutphen, Rebecca, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Gayther, Simon A., primary, Gentry-Maharaj, Aleksandra, primary, Menon, Usha, primary, Ramus, Susan J., primary, Pearce, Celeste L., primary, Pike, Malcolm C., primary, Stram, Daniel O., primary, Wu, Anna H., primary, Kupryjanczyk, Jolanta, primary, Dansonka-Mieszkowska, Agnieszka, primary, Rzepecka, Iwona K., primary, Spiewankiewicz, Beata, primary, Goodman, Marc T., primary, Wilkens, Lynne R., primary, Carney, Michael E., primary, Thompson, Pamela J., primary, Heitz, Florian, primary, du Bois, Andreas, primary, Schwaab, Ira, primary, Harter, Philipp, primary, Pisterer, Jacobus, primary, Hillemanns, Peter, primary, Karlan, Beth Y., primary, Walsh, Christine, primary, Lester, Jenny, primary, Orsulic, Sandra, primary, Winham, Stacey J., primary, Earp, Madalene, primary, Larson, Melissa C., primary, Fogarty, Zachary C., primary, Høgdall, Estrid, primary, Jensen, Allan, primary, Kjaer, Susanne Kruger, primary, Fridley, Brooke L., primary, Cunningham, Julie M., primary, Vierkant, Robert A., primary, Schildkraut, Joellen M., primary, Iversen, Edwin S., primary, Terry, Kathryn L., primary, Cramer, Daniel W., primary, Bandera, Elisa V., primary, Orlow, Irene, primary, Pejovic, Tanja, primary, Bean, Yukie, primary, Høgdall, Claus, primary, Lundvall, Lene, primary, McNeish, Ian, primary, Paul, James, primary, Carty, Karen, primary, Siddiqui, Nadeem, primary, Glasspool, Rosalind, primary, Sellers, Thomas, primary, Kennedy, Catherine, primary, Chiew, Yoke-Eng, primary, Berchuck, Andrew, primary, MacGregor, Stuart, primary, Pharoah, Paul D.P., primary, Goode, Ellen L., primary, deFazio, Anna, primary, Webb, Penelope M., primary, and Chenevix-Trench, Georgia, primary
Published: 2023
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43. Supplemental Tables and Figures from Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci

Author: Reid, Brett M., primary, Permuth, Jennifer B., primary, Chen, Y. Ann, primary, Teer, Jamie K., primary, Monteiro, Alvaro N.A., primary, Chen, Zhihua, primary, Tyrer, Jonathan, primary, Berchuck, Andrew, primary, Chenevix-Trench, Georgia, primary, Doherty, Jennifer A., primary, Goode, Ellen L., primary, Iverson, Edwin S., primary, Lawrenson, Kate, primary, Pearce, Celeste L., primary, Pharoah, Paul D., primary, Phelan, Catherine M., primary, Ramus, Susan J., primary, Rossing, Mary Anne, primary, Schildkraut, Joellen M., primary, Cheng, Jin Q., primary, Gayther, Simon A., primary, and Sellers, Thomas A., primary
Published: 2023
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44. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author: Hollestelle, Antoinette, van der Baan, Frederieke H., Berchuck, Andrew, Johnatty, Sharon E., Aben, Katja K., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Antoniou, Antonis C., Apicella, Carmel, Arndt, Volker, Arnold, Norbert, Arun, Banu K., Arver, Brita, Ashworth, Alan, Baglietto, Laura, Balleine, Rosemary, Bandera, Elisa V., Barrowdale, Daniel, Bean, Yukie T., Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Berger, Andreas, Berger, Raanan, Beuselinck, Benoit, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Brüning, Thomas, Budzilowska, Agnieszka, Bunker, Clareann H., Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B.M., Collée, J. Margriet, Cook, Linda S., Couch, Fergus J., Cox, Angela, Cramer, Daniel, Cross, Simon S., Cunningham, Julie M., Cybulski, Cezary, Czene, Kamila, Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, de la Hoya, Miguel, deFazio, Anna, Dennis, Joseph, Devilee, Peter, Dicks, Ed M., Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Silva, Isabel Dos Santos, du Bois, Andreas, Dumont, Martine, Dunning, Alison M., Duran, Mercedes, Easton, Douglas F., Eccles, Diana, Edwards, Robert P., Ehrencrona, Hans, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve D., Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Fontaine, Annette, Fortuzzi, Stefano, Fostira, Florentia, Fridley, Brooke L., Friebel, Tara, Friedman, Eitan, Friel, Grace, Frost, Debra, Garber, Judy, García-Closas, Montserrat, Gayther, Simon A., Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Gore, Martin, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Gschwantler Kaulich, Daphne, Guénel, Pascal, Guzman, Starr R., Haeberle, Lothar, Haiman, Christopher A., Hall, Per, Halverson, Sandra L., Hamann, Ute, Hansen, Thomas V.O., Harter, Philipp, Hartikainen, Jaana M., Healey, Sue, Hein, Alexander, Heitz, Florian, Henderson, Brian E., Herzog, Josef, T Hildebrandt, Michelle A., Høgdall, Claus K., Høgdall, Estrid, Hogervorst, Frans B.L., Hopper, John L., Humphreys, Keith, Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska, Katarzyna, Jensen, Allan, Jensen, Uffe Birk, Johnson, Nichola, Jukkola-Vuorinen, Arja, Kabisch, Maria, Karlan, Beth Y., Kataja, Vesa, Kauff, Noah, Kelemen, Linda E., Kerin, Michael J., Kiemeney, Lambertus A., Kjaer, Susanne K., Knight, Julia A., Knol-Bout, Jacoba P., Konstantopoulou, Irene, Kosma, Veli-Matti, Krakstad, Camilla, Kristensen, Vessela, Kuchenbaecker, Karoline B., Kupryjanczyk, Jolanta, Laitman, Yael, Lambrechts, Diether, Lambrechts, Sandrina, Larson, Melissa C., Lasa, Adriana, Laurent-Puig, Pierre, Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Leminen, Arto, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Liang, Dong, Lindblom, Annika, Lindor, Noralane, Lissowska, Jolanta, Long, Jirong, Lu, Karen H., Lubinski, Jan, Lundvall, Lene, Lurie, Galina, Mai, Phuong L., Mannermaa, Arto, Margolin, Sara, Mariette, Frederique, Marme, Frederik, Martens, John W.M., Massuger, Leon F.A.G., Maugard, Christine, Mazoyer, Sylvie, McGuffog, Lesley, McGuire, Valerie, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menegaux, Florence, Menéndez, Primitiva, Menkiszak, Janusz, Menon, Usha, Mensenkamp, Arjen R., Miller, Nicola, Milne, Roger L., Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Müller, Heiko, Mulligan, Anna Marie, Muranen, Taru A., Narod, Steven A., Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nielsen, Sune F., Nordestgaard, Børge G., Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olson, Sara H., Oosterwijk, Jan C., Orlow, Irene, Orr, Nick, Orsulic, Sandra, Osorio, Ana, Ottini, Laura, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peissel, Bernard, Pejovic, Tanja, Pelttari, Liisa M., Perkins, Jo, Permuth-Wey, Jenny, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Platte, Radka, Plisiecka-Halasa, Joanna, Poole, Elizabeth M., Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rebbeck, Timothy R., Reed, Malcolm W.R., Rennert, Gad, Risch, Harvey A., Robson, Mark, Rodriguez, Gustavo C., Romero, Atocha, Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo, Salani, Ritu, Salvesen, Helga B., Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schrauder, Michael G., Schumacher, Fredrick, Schwaab, Ira, Scuvera, Giulietta, Sellers, Thomas A., Severi, Gianluca, Seynaeve, Caroline M., Shah, Mitul, Shrubsole, Martha, Siddiqui, Nadeem, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Smeets, Dominiek, Sohn, Christof, Soller, Maria, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sucheston, Lara, Swerdlow, Anthony, Tangen, Ingvild L., Tea, Muy-Kheng, Teixeira, Manuel R., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Tollenaar, Rob A.E.M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tsimiklis, Helen, Tung, Nadine, Tworoger, Shelley S., Tyrer, Jonathan P., Vachon, Celine M., Van 't Veer, Laura J., van Altena, Anne M., Van Asperen, C.J., van den Berg, David, van den Ouweland, Ans M.W., van Doorn, Helena C., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vergote, Ignace, Verhoef, Senno, Vierkant, Robert A., Vijai, Joseph, Vitonis, Allison F., von Wachenfeldt, Anna, Walsh, Christine, Wang, Qin, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weischer, Maren, Weitzel, Jeffrey N., Weltens, Caroline, Wentzensen, Nicolas, Whittemore, Alice S., Wilkens, Lynne R., Winqvist, Robert, Wu, Anna H., Wu, Xifeng, Yang, Hannah P., Zaffaroni, Daniela, Pilar Zamora, M., Zheng, Wei, Ziogas, Argyrios, Chenevix-Trench, Georgia, Pharoah, Paul D.P., Rookus, Matti A., Hooning, Maartje J., and Goode, Ellen L.
Published: 2016
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45. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Phelan, Catherine M, Kuchenbaecker, Karoline B, Tyrer, Jonathan P, Kar, Siddhartha P, Lawrenson, Kate, Winham, Stacey J, Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J, Chornokur, Ganna, Earp, Madalene A, Lyra, Jr, Paulo C, Lee, Janet M, Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M, Aben, Katja K H, Adams, Marcia, Adlard, Julian, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K, Arver, Brita, Azzollini, Jacopo, Balmaña, Judith, Banerjee, Susana N, Barjhoux, Laure, Barkardottir, Rosa B, Bean, Yukie, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q, Birrer, Michael J, Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J, Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Åke, Bradbury, Angela R, Brenton, James D, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Cannioto, Rikki, Carney, Michael E, Cescon, Terence, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen B M, Conner, Thomas, Cook, Linda S, Cook, Jackie, Cramer, Daniel W, Cunningham, Julie M, D'Aloisio, Aimee A, Daly, Mary B, Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dossus, Laure, Duran, Mercedes, Dürst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M, Fogarty, Zachary C, Fortner, Renée T, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Fridley, Brooke L, Friebel, Tara M, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, García, María J, Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G, Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Goranova, Teodora, Gore, Martin, Greene, Mark H, Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A, Harris, Holly R, Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A T, Hillemanns, Peter, Hodgson, Shirley, Høgdall, Claus K, Høgdall, Estrid, Hogervorst, Frans B L, Holland, Helene, Hooning, Maartje J, Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J, Hung, Jillian, Hunter, David J, Huntsman, David G, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Iversen, Edwin S, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M, Johnatty, Sharon, Jones, Michael E, Kannisto, Päivi, Karlan, Beth Y, Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J, Khusnutdinova, Elza, Kiemeney, Lambertus A, Kiiski, Johanna I, Kim, Sung-Won, Kjaer, Susanne K, Köbel, Martin, Kopperud, Reidun K, Kruse, Torben A, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larrañaga, Nerea, Larson, Melissa C, Lazaro, Conxi, Le, Nhu D, Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B, Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A, Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H, Lubinński, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L, Mendoza-Fandiño, Gustavo, Manoukian, Siranoush, Massuger, Leon F A G, May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N, McGuire, Valerie, McLaughlin, John R, McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R, Merritt, Melissa A, Milne, Roger L, Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L, Nedergaard, Lotte, Ness, Roberta B, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Olswold, Curtis, O'Malley, David M, Ong, Kai-ren, Onland-Moret, N Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L, Pedersen, Inge Søkilde, Peeters, Petra H M, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M, Permuth, Jennifer B, Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C, Piskorz, Anna M, Poblete, Samantha R, Pocza, Timea, Poole, Elizabeth M, Poppe, Bruce, Porteous, Mary E, Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C, Rodríguez-Antona, Cristina, Romm, Jane, Rookus, Matti A, Rossing, Mary Anne, Rothstein, Joseph H, Rudolph, Anja, Runnebaum, Ingo B, Salvesen, Helga B, Sandler, Dale P, Schoemaker, Minouk J, Senter, Leigha, Setiawan, V Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E, Sieh, Weiva, Singer, Christian F, Sobol, Hagay, Song, Honglin, Southey, Melissa C, Spurdle, Amanda B, Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E, Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J, Szabo, Csilla I, Szafron, Lukasz, Tan, Yen Y, Taylor, Jack A, Tea, Muy-Kheng, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L, Tihomirova, Laima, Tinker, Anna V, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C, Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S, van Altena, Anne M, Van Den Berg, David, van der Hout, Annemarie H, van der Luijt, Rob B, Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J, Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A, Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M, Weinberg, Clarice R, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Wijnen, Juul T, Wilkens, Lynne R, Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H, Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K, Narod, Steven A, Easton, Douglas F, Amos, Christopher I, Schildkraut, Joellen M, Ramus, Susan J, Ottini, Laura, Goodman, Marc T, Park, Sue K, Kelemen, Linda E, Risch, Harvey A, Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N, Couch, Fergus J, Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L, Sellers, Thomas A, Gayther, Simon A, Antoniou, Antonis C, and Pharoah, Paul D P
Published: 2017
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46. Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci

Author: Devries, Amber A, Dennis, Joe, Tyrer, Jonathan P, Peng, Pei-chen, Coetzee, Simon G, Reyes, Alberto L, Plummer, Jasmine T, Davis, Brian D, Chen, Stephanie S, Dezem, Felipe Segato, Aben, Katja K H, Anton-culver, Hoda, Antonenkova, Natalia N, Beckmann, Matthias W, Beeghly-fadiel, Alicia, Berchuck, Andrew, Bogdanova, Natalia V, Bogdanova-markov, Nadja, Brenton, James D, Butzow, Ralf, Campbell, Ian, Chang-claude, Jenny, Chenevix-trench, G, Cook, Linda S, Defazio, A, Doherty, Jennifer A, Dörk, Thilo, Eccles, Diana M, Eliassen, A Heather, Fasching, Peter A, Fortner, Renée T, Giles, Graham G, Goode, Ellen L, Goodman, Marc T, Gronwald, Jacek, Webb, P, Friedlander, M, Obermair, A, Grant, P, Nagle, C, Beesley, V, Chevenix-trench, G, Bowtell, D, Blomfield, P, Brand, A, Davis, A, Leung, Y, Nicklin, J, Quinn, M, Livingstone, K, O'neill, H, Williams, M, Black, A, Hadley, A, Glasgow, A, Garrett, A, Rao, A, Shannon, C, Steer, C, Allen, D, Neesham, D, Otton, G, Au-yeung, G, Goss, G, Wain, G, Gard, G, Robertson, G, Lombard, J, Tan, J, Mcneilage, J, Power, J, Coward, J, Miller, J, Carter, J, Lamont, J, Wong, K M, Reid, K, Perrin, L, Milishkin, L, Nascimento, M, Buck, M, Bunting, M, Harrison, M, Chetty, N, Hacker, N, Mcnally, O, Harnett, P, Beale, P, Awad, R, Mohan, R, Farrell, R, Mcintosh, R, Rome, R, Sayer, R, Houghton, R, Hogg, R, Land, R, Baron-hay, S, Paramasivum, S, Pather, S, Hyde, S, Salfinger, S, Valmadre, S, Jobling, T, Manolitsas, T, Bonaventura, T, Arora, V, Green, A, Gertig, D, Traficante, N, Fereday, S, Moore, S, Hung, J, Harrap, K, Sadkowsky, T, Pandeya, N, Malt, M, Robertson, R, Bergh, T Vanden, Jones, M, Mckenzie, P, Maidens, J, Nattress, K, Chiew, Y E, Stenlake, A, Sullivan, H, Alexander, B, Ashover, P, Brown, S, Corrish, T, Green, L, Jackman, L, Ferguson, K, Martin, K, Martyn, A, Ranieri, B, White, J, Jayde, V, Bowes, L, Mamers, P, Galletta, L, Giles, D, Hendley, J, Alsop, K, Schmidt, T, Shirley, H, Ball, C, Young, C, Viduka, S, Tran, H, Bilic, S, Glavinas, L, Brooks, J, Stuart-harris, R, Kirsten, F, Rutovitz, J, Clingan, P, Proietto, A, Braye, S, Shannon, J, Stewart, J, Begbie, S, Håkansson, Niclas, Hildebrandt, Michelle A T, Huff, Chad, Huntsman, David G, Jensen, Allan, Kar, Siddhartha, Karlan, Beth Y, Khusnutdinova, Elza K, Kiemeney, Lambertus A, Kjaer, Susanne K, Kupryjanczyk, Jolanta, Labrie, Marilyne, Lambrechts, Diether, Le, Nhu D, Lubiński, Jan, May, Taymaa, Menon, Usha, Milne, Roger L, Modugno, Francesmary, Monteiro, Alvaro N, Moysich, Kirsten B, Odunsi, Kunle, Olsson, Håkan, Pearce, Celeste L, Pejovic, Tanja, Ramus, Susan J, Riboli, Elio, Riggan, Marjorie J, Romieu, Isabelle, Sandler, Dale P, Schildkraut, Joellen M, Setiawan, V Wendy, Sieh, Weiva, Song, Honglin, Sutphen, Rebecca, Terry, Kathryn L, Thompson, Pamela J, Titus, Linda, Tworoger, Shelley S, Van Nieuwenhuysen, Els, Edwards, Digna Velez, Webb, Penelope M, Wentzensen, Nicolas, Whittemore, Alice S, Wolk, Alicja, Wu, Anna H, Ziogas, Argyrios, Freedman, Matthew L, Lawrenson, Kate, Pharoah, Paul D P, Easton, Douglas F, Gayther, Simon A, Jones, Michelle R, Helsinki University Hospital Area, Clinicum, Department of Pathology, and HUSLAB
Subjects: Cancer Research, GENES, DNA Copy Number Variations, SUSCEPTIBILITY LOCI, 3122 Cancers, Carcinoma, Ovarian Epithelial, Polymorphism, Single Nucleotide, BREAST, Humans, Genetic Predisposition to Disease, BRCA2 MUTATIONS, GENOME-WIDE ASSOCIATION, Alleles, Ovarian Neoplasms, Cancer och onkologi, Science & Technology, IDENTIFICATION, REARRANGEMENTS, COMMON VARIANTS, GERMLINE MUTATIONS, DELETIONS, Oncology, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Cancer and Oncology, Female, Life Sciences & Biomedicine, Genome-Wide Association Study
Abstract: Background Known risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort. Methods Single nucleotide polymorphism array data from 13 071 EOC cases and 17 306 controls of White European ancestry were used to identify CNVs associated with EOC risk using a rare admixture maximum likelihood test for gene burden and a by-probe ratio test. We performed enrichment analysis of CNVs at known EOC risk loci and functional biofeatures in ovarian cancer–related cell types. Results We identified statistically significant risk associations with CNVs at known EOC risk genes; BRCA1 (PEOC = 1.60E-21; OREOC = 8.24), RAD51C (Phigh-grade serous ovarian cancer [HGSOC] = 5.5E-4; odds ratio [OR]HGSOC = 5.74 del), and BRCA2 (PHGSOC = 7.0E-4; ORHGSOC = 3.31 deletion). Four suggestive associations (P Conclusions CNVs in BRCA1 have been previously reported in smaller studies, but their observed frequency in this large population-based cohort, along with the CNVs observed at BRCA2 and RAD51C gene loci in EOC cases, suggests that these CNVs are potentially pathogenic and may contribute to the spectrum of disease-causing mutations in these genes. CNVs are likely to occur in a wider set of susceptibility regions, with potential implications for clinical genetic testing and disease prevention.
Published: 2022

47. Current Gaps in Ovarian Cancer Epidemiology: The Need for New Population-Based Research

Author: Doherty, Jennifer A., Jensen, Allan, Kelemen, Linda E., Pearce, Celeste L., Poole, Elizabeth, Schildkraut, Joellen M., Terry, Kathryn L., Tworoger, Shelley S., Webb, Penelope M., and Wentzensen, Nicolas
Published: 2017
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48. The Essential Epidemiology of Cancer of the Endometrium

Author: Pearce, Celeste L., Chung, Karine, Wu, Anna H., Pike, Malcolm C., Oliva, Esther, editor, and Muggia, Franco, editor
Published: 2009
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49. Menstrual pain and risk of epithelial ovarian cancer: Results from the Ovarian Cancer Association Consortium

Author: Babic, Ana, Harris, Holly R., Vitonis, Allison F., Titus, Linda J., Jordan, Susan J., Webb, Penelope M., Risch, Harvey A., Rossing, Mary Anne, Doherty, Jennifer A., Wicklund, Kristine, Goodman, Marc T., Modugno, Francesmary, Moysich, Kirsten B., Ness, Roberta B., Kjaer, Susanne K., Schildkraut, Joellen, Berchuck, Andrew, Pearce, Celeste L., Wu, Anna H., Cramer, Daniel W., and Terry, Kathryn L.
Published: 2018
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50. Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

Author: Cuellar-Partida, Gabriel, Lu, Yi, Dixon, Suzanne C., Fasching, Peter A., Hein, Alexander, Burghaus, Stefanie, Beckmann, Matthias W., Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Vanderstichele, Adriaan, Doherty, Jennifer Anne, Rossing, Mary Anne, Chang-Claude, Jenny, Rudolph, Anja, Wang-Gohrke, Shan, Goodman, Marc T., Bogdanova, Natalia, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter, Runnebaum, Ingo B., Antonenkova, Natalia, Butzow, Ralf, Leminen, Arto, Nevanlinna, Heli, Pelttari, Liisa M., Edwards, Robert P., Kelley, Joseph L., Modugno, Francesmary, Moysich, Kirsten B., Ness, Roberta B., Cannioto, Rikki, Høgdall, Estrid, Høgdall, Claus, Jensen, Allan, Giles, Graham G., Bruinsma, Fiona, Kjaer, Susanne K., Hildebrandt, Michelle A. T., Liang, Dong, Lu, Karen H., Wu, Xifeng, Bisogna, Maria, Dao, Fanny, Levine, Douglas A., Cramer, Daniel W., Terry, Kathryn L., Tworoger, Shelley S., Stampfer, Meir, Missmer, Stacey, Bjorge, Line, Salvesen, Helga B., Kopperud, Reidun K., Bischof, Katharina, Aben, Katja K. H., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Brooks-Wilson, Angela, Olson, Sara H., McGuire, Valerie, Rothstein, Joseph H., Sieh, Weiva, Whittemore, Alice S., Cook, Linda S., Le, Nhu D., Blake Gilks, C., Gronwald, Jacek, Jakubowska, Anna, Lubiński, Jan, Kluz, Tomasz, Song, Honglin, Tyrer, Jonathan P., Wentzensen, Nicolas, Brinton, Louise, Trabert, Britton, Lissowska, Jolanta, McLaughlin, John R., Narod, Steven A., Phelan, Catherine, Anton-Culver, Hoda, Ziogas, Argyrios, Eccles, Diana, Campbell, Ian, Gayther, Simon A., Gentry-Maharaj, Aleksandra, Menon, Usha, Ramus, Susan J., Wu, Anna H., Dansonka-Mieszkowska, Agnieszka, Kupryjanczyk, Jolanta, Timorek, Agnieszka, Szafron, Lukasz, Cunningham, Julie M., Fridley, Brooke L., Winham, Stacey J., Bandera, Elisa V., Poole, Elizabeth M., Morgan, Terry K., Goode, Ellen L., Schildkraut, Joellen M., Pearce, Celeste L., Berchuck, Andrew, Pharoah, Paul D. P., Webb, Penelope M., Chenevix-Trench, Georgia, Risch, Harvey A., MacGregor, Stuart, and Australian Ovarian Cancer Study
Published: 2016
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