6,039 results on '"Kaaks, Rudolf"'
Search Results
2. Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study
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Konigorski, Stefan, Janke, Jürgen, Patone, Giannino, Bergmann, Manuela M., Lippert, Christoph, Hübner, Norbert, Kaaks, Rudolf, Boeing, Heiner, and Pischon, Tobias
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- 2024
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3. Germline copy number variants and endometrial cancer risk
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Stylianou, Cassie E., Wiggins, George A. R., Lau, Vanessa L., Dennis, Joe, Shelling, Andrew N., Wilson, Michelle, Sykes, Peter, Amant, Frederic, Annibali, Daniela, De Wispelaere, Wout, Easton, Douglas F., Fasching, Peter A., Glubb, Dylan M., Goode, Ellen L., Lambrechts, Diether, Pharoah, Paul D. P., Scott, Rodney J., Tham, Emma, Tomlinson, Ian, Bolla, Manjeet K., Couch, Fergus J., Czene, Kamila, Dörk, Thilo, Dunning, Alison M., Fletcher, Olivia, García-Closas, Montserrat, Hoppe, Reiner, Jernström, Helena, Kaaks, Rudolf, Michailidou, Kyriaki, Obi, Nadia, Southey, Melissa C., Stone, Jennifer, Wang, Qin, Spurdle, Amanda B., O’Mara, Tracy A., Pearson, John, and Walker, Logan C.
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- 2024
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4. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
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Levi, Hagai, Carmi, Shai, Rosset, Saharon, Yerushalmi, Rinat, Zick, Aviad, Yablonski-Peretz, Tamar, Consortium, The BCAC, Wang, Qin, Bolla, Manjeet K, Dennis, Joe, Michailidou, Kyriaki, Lush, Michael, Ahearn, Thomas, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Arndt, Volker, Augustinsson, Annelie, Auvinen, Päivi, Freeman, Laura Beane, Beckmann, Matthias, Behrens, Sabine, Bermisheva, Marina, Bodelon, Clara, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Byers, Helen, Camp, Nicola, Castelao, Jose, Chang-Claude, Jenny, Chirlaque, María-Dolores, Chung, Wendy, Clarke, Christine, Collaborators, NBCS, Collee, Margriet J, Colonna, Sarah, Consortium, CTS, Couch, Fergus, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary, Devilee, Peter, Dork, Thilo, Dossus, Laure, Eccles, Diana M, Eliassen, A Heather, Eriksson, Mikael, Evans, Gareth, Fasching, Peter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Garcia-Saenz, Jose Angel, Genkinger, Jeanine, Giles, Graham G, Goldberg, Mark, Guénel, Pascal, Hall, Per, Hamann, Ute, He, Wei, Hillemanns, Peter, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John, Investigators, ABCTB, Jakovchevska, Simona, Jakubowska, Anna, Jernström, Helena, John, Esther, Johnson, Nichola, Jones, Michael, Vijai, Joseph, Kaaks, Rudolf, Khusnutdinova, Elza, Kitahara, Cari, Koutros, Stella, Kristensen, Vessela, Kurian, Allison W, Lacey, James, Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Loibl, Sibylle, Lori, Adriana, Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Mavroudis, Dimitrios, Menon, Usha, Mulligan, AnnaMarie, Murphy, Rachel, Nevelsteen, Ines, Newman, William G, and Obi, Nadia
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Oncology and Carcinogenesis ,Breast Cancer ,Prevention ,Cancer ,Humans ,Female ,Breast Neoplasms ,Genome-Wide Association Study ,Jews ,Israel ,Genetic Predisposition to Disease ,Risk Factors ,Multifactorial Inheritance ,Transcription Factors ,Genomics ,Polymorphism ,Genetic ,BCAC Consortium ,NBCS Collaborators ,CTS Consortium ,ABCTB Investigators ,Polymorphism ,Genetic ,Medical and Health Sciences ,Genetics & Heredity ,Clinical sciences - Abstract
BackgroundPolygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European (EUR) ancestry, and the generalisation of EUR-based PRS to other populations is a major challenge. In this study, we examined the performance of EUR-based BC PRS models in Ashkenazi Jewish (AJ) women.MethodsWe generated PRSs based on data on EUR women from the Breast Cancer Association Consortium (BCAC). We tested the performance of the PRSs in a cohort of 2161 AJ women from Israel (1437 cases and 724 controls) from BCAC (BCAC cohort from Israel (BCAC-IL)). In addition, we tested the performance of these EUR-based BC PRSs, as well as the established 313-SNP EUR BC PRS, in an independent cohort of 181 AJ women from Hadassah Medical Center (HMC) in Israel.ResultsIn the BCAC-IL cohort, the highest OR per 1 SD was 1.56 (±0.09). The OR for AJ women at the top 10% of the PRS distribution compared with the middle quintile was 2.10 (±0.24). In the HMC cohort, the OR per 1 SD of the EUR-based PRS that performed best in the BCAC-IL cohort was 1.58±0.27. The OR per 1 SD of the commonly used 313-SNP BC PRS was 1.64 (±0.28).ConclusionsExtant EUR GWAS data can be used for generating PRSs that identify AJ women with markedly elevated risk of BC and therefore hold promise for improving BC risk assessment in AJ women.
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- 2023
5. Nicht schaden!
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Delorme, Stefan and Kaaks, Rudolf
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- 2024
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6. Correction to: Consumption of soft drinks and juices and risk of liver and biliary tract cancers in a European cohort
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Stepien, Magdalena, Duarte-Salles, Talita, Fedirko, Veronika, Trichopoulou, Antonia, Lagiou, Pagona, Bamia, Christina, Overvad, Kim, Tjønneland, Anne, Hansen, Louise, Boutron-Ruault, Marie-Christine, Fagherazzi, Guy, Severi, Gianluca, Kühn, Tilman, Kaaks, Rudolf, Aleksandrova, Krasimira, Boeing, Heiner, Klinaki, Eleni, Palli, Domenico, Grioni, Sara, Panico, Salvatore, Tumino, Rosario, Naccarati, Alessio, Bueno-de-Mesquita, H. Bas, Peeters, Petra H., Skeie, Guri, Weiderpass, Elisabete, Parr, Christine L., Quirós, José Ramón, Buckland, Genevieve, Molina-Montes, Esther, Amiano, Pilar, Chirlaque, Maria-Dolores, Ardanaz, Eva, Sonestedt, Emily, Ericson, Ulrika, Wennberg, Maria, Nilsson, Lena Maria, Khaw, Kay-Tee, Wareham, Nick, Bradbury, Kathryn E., Ward, Heather A., Romieu, Isabelle, and Jenab, Mazda
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- 2024
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7. A Likelihood Ratio Approach for Utilizing Case‐Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2
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Zanti, Maria, O′Mahony, Denise G, Parsons, Michael T, Li, Hongyan, Dennis, Joe, Aittomäkkiki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Aronson, Kristan J, Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Brown, Melissa A, Buys, Saundra S, Canzian, Federico, Caputo, Sandrine M, Castelao, Jose E, Chang-Claude, Jenny, Collaborators, GC-HBOC study, Czene, Kamila, Daly, Mary B, De Nicolo, Arcangela, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Gentry-Maharaj, Aleksandra, Giele, Willemina RR Geurts-, Giles, Graham G, Glendon, Gord, Goldberg, Mark S, Garcia, Encarna B Gómez, Güendert, Melanie, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hogervorst, Frans BL, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Houdayer, Claude, Houlston, Richard S, Howell, Anthony, Investigators, ABCTB, Jakimovska, Milena, Jakubowska, Anna, Jernström, Helena, John, Esther M, Kaaks, Rudolf, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Lacey, James V, Lambrechts, Diether, Léoné, Melanie, Lindblom, Annika, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Menon, Usha, Milne, Roger L, Monteiro, Alvaro N, Murphy, Rachel A, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Offit, Kenneth, Park, Sue K, James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U, Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H, Saloustros, Emmanouil, Sandler, Dale P, Schmidt, Marjanka K, Schmutzler, Rita K, and Shu, Xiao-Ou
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Biological Sciences ,Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Genetics ,Biotechnology ,Genetic Testing ,Prevention ,Cancer ,Human Genome ,Women's Health ,Breast Cancer ,2.1 Biological and endogenous factors ,Good Health and Well Being ,Humans ,Case-Control Studies ,BRCA2 Protein ,Genetic Predisposition to Disease ,Female ,BRCA1 Protein ,Breast Neoplasms ,Likelihood Functions ,Genetic Variation ,Penetrance ,GC-HBOC study Collaborators ,ABCTB Investigators ,ACMG/AMP ,BRCA ,PS4 ,VUS ,case-control ,likelihood ratio ,variant classification ,Clinical Sciences ,Genetics & Heredity ,Clinical sciences - Abstract
A large number of variants identified through clinical genetic testing in disease susceptibility genes, are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion), can inform their interpretation. We present a novel case-control likelihood ratio-based method that incorporates gene-specific age-related penetrance. We demonstrate the utility of this method in the analysis of simulated and real datasets. In the analyses of simulated data, the likelihood ratio method was more powerful compared to other methods. Likelihood ratios were calculated for a case-control dataset of BRCA1 and BRCA2 variants from the Breast Cancer Association Consortium (BCAC), and compared with logistic regression results. A larger number of variants reached evidence in favor of pathogenicity, and a substantial number of variants had evidence against pathogenicity - findings that would not have been reached using other case-control analysis methods. Our novel method provides greater power to classify rare variants compared to classical case-control methods. As an initiative from the ENIGMA Analytical Working Group, we provide user-friendly scripts and pre-formatted excel calculators for implementation of the method for rare variants in BRCA1, BRCA2 and other high-risk genes with known penetrance.
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- 2023
8. On the use of the healthy lifestyle index to investigate specific disease outcomes
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Viallon, Vivian, Freisling, Heinz, Matta, Komodo, Nannsen, Anne Østergaard, Dahm, Christina C., Tjønneland, Anne, Eriksen, Anne Kirstine, Kaaks, Rudolf, Katzke, Verena A., Schulze, Matthias B., Masala, Giovanna, Tagliabue, Giovanna, Simeon, Vittorio, Tumino, Rosario, Milani, Lorenzo, Derksen, Jeroen W. G., van der Schouw, Yvonne T., Nøst, Therese Haugdahl, Borch, Kristin Benjaminsen, Sandanger, Torkjel M., Quirós, J. Ramón, Rodriguez-Barranco, Miguel, Bonet, Catalina, Aizpurua-Atxega, Amaia, Cirera, Lluís, Guevara, Marcela, Sundström, Björn, Winkvist, Anna, Heath, Alicia K., Gunter, Marc J., Weiderpass, Elisabete, Johansson, Mattias, and Ferrari, Pietro
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- 2024
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9. Hepatic steatosis, metabolic dysfunction and risk of mortality: findings from a multinational prospective cohort study
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Mayén, Ana-Lucia, Sabra, Mirna, Aglago, Elom K., Perlemuter, Gabriel, Voican, Cosmin, Ramos, Ines, Debras, Charlotte, Blanco, Jessica, Viallon, Vivian, Ferrari, Pietro, Olsen, Anja, Tjønneland, Anne, Langmann, Fie, Dahm, Christina C., Rothwell, Joseph, Laouali, Nasser, Marques, Chloé, Schulze, Matthias B., Katzke, Verena, Kaaks, Rudolf, Palli, Domenico, Macciotta, Alessandra, Panico, Salvatore, Tumino, Rosario, Agnoli, Claudia, Farràs, Marta, Molina-Montes, Esther, Amiano, Pilar, Chirlaque, María-Dolores, Castilla, Jesús, Werner, Mårten, Bodén, Stina, Heath, Alicia K., Tsilidis, Kostas, Aune, Dagfinn, Weiderpass, Elisabete, Freisling, Heinz, Gunter, Marc J., and Jenab, Mazda
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- 2024
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10. Healthy lifestyle change and all-cause and cancer mortality in the European Prospective Investigation into Cancer and Nutrition cohort
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Matta, Komodo, Viallon, Vivian, Botteri, Edoardo, Peveri, Giulia, Dahm, Christina, Nannsen, Anne Østergaard, Olsen, Anja, Tjønneland, Anne, Elbaz, Alexis, Artaud, Fanny, Marques, Chloé, Kaaks, Rudolf, Katzke, Verena, Schulze, Matthias B., Llanaj, Erand, Masala, Giovanna, Pala, Valeria, Panico, Salvatore, Tumino, Rosario, Ricceri, Fulvio, Derksen, Jeroen W. G., Nøst, Therese Haugdahl, Sandanger, Torkjel M., Borch, Kristin Benjaminsen, Quirós, J. Ramón, Castro-Espin, Carlota, Sánchez, Maria-José, Atxega, Amaia Aizpurua, Cirera, Lluís, Guevara, Marcela, Manjer, Jonas, Tin Tin, Sandar, Heath, Alicia, Touvier, Mathilde, Goldberg, Marcel, Weiderpass, Elisabete, Gunter, Marc J., Freisling, Heinz, Riboli, Elio, and Ferrari, Pietro
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- 2024
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11. Cardiac troponin I as predictor for cardiac and other mortality in the German randomized lung cancer screening trial (LUSI)
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Cortés-Ibáñez, Francisco O., Johnson, Theron, Mascalchi, Mario, Katzke, Verena, Delorme, Stefan, and Kaaks, Rudolf
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- 2024
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12. Associations between lifestyle, health, and clinical characteristics and circulating oxysterols and cholesterol precursors in women diagnosed with breast cancer: a cross-sectional study
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Decker, Nina Sophia, Johnson, Theron, Le Cornet, Charlotte, Behrens, Sabine, Obi, Nadia, Kaaks, Rudolf, Chang-Claude, Jenny, and Fortner, Renée Turzanski
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- 2024
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13. Number of medically prescribed pharmaceutical agents as predictor of mortality risk: a longitudinal, time-variable analysis in the EPIC-Heidelberg cohort
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Katzke, Verena A., Bajracharya, Rashmita, Nasser, Mohamad I., Schöttker, Ben, and Kaaks, Rudolf
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- 2024
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14. Correction to: Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study
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Konigorski, Stefan, Janke, Jürgen, Patone, Giannino, Bergmann, Manuela M., Lippert, Christoph, Hübner, Norbert, Kaaks, Rudolf, Boeing, Heiner, and Pischon, Tobias
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- 2024
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15. Lifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis
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Fu, Zhuxuan, Brooks, Maria Mori, Irvin, Sarah, Jordan, Susan, Aben, Katja KH, Anton-Culver, Hoda, Bandera, Elisa V, Beckmann, Matthias W, Berchuck, Andrew, Brooks-Wilson, Angela, Chang-Claude, Jenny, Cook, Linda S, Cramer, Daniel W, Cushing-Haugen, Kara L, Doherty, Jennifer A, Ekici, Arif B, Fasching, Peter A, Fortner, Renée T, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Giles, Graham G, Goode, Ellen L, Goodman, Marc T, Group, AOCS, Harris, Holly R, Hein, Alexander, Kaaks, Rudolf, Kiemeney, Lambertus A, Köbel, Martin, Kotsopoulos, Joanne, Le, Nhu D, Lee, Alice W, Matsuo, Keitaro, McGuire, Valerie, McLaughlin, John R, Menon, Usha, Milne, Roger L, Moysich, Kirsten B, Pearce, Celeste Leigh, Pike, Malcolm C, Qin, Bo, Ramus, Susan J, Riggan, Marjorie J, Rothstein, Joseph H, Schildkraut, Joellen M, Sieh, Weiva, Sutphen, Rebecca, Terry, Kathryn L, Thompson, Pamela J, Titus, Linda, van Altena, Anne M, White, Emily, Whittemore, Alice S, Wu, Anna H, Zheng, Wei, Ziogas, Argyrios, Taylor, Sarah E, Tang, Lu, Songer, Thomas, Wentzensen, Nicolas, Webb, Penelope M, Risch, Harvey A, and Modugno, Francesmary
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Rare Diseases ,Clinical Research ,Cancer ,Ovarian Cancer ,Prevention ,Pregnancy ,Humans ,Female ,Carcinoma ,Ovarian Epithelial ,Ovarian Neoplasms ,Risk Factors ,Parity ,Contraceptives ,Oral ,Case-Control Studies ,AOCS Group ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
BackgroundThe role of ovulation in epithelial ovarian cancer (EOC) is supported by the consistent protective effects of parity and oral contraceptive use. Whether these factors protect through anovulation alone remains unclear. We explored the association between lifetime ovulatory years (LOY) and EOC.MethodsLOY was calculated using 12 algorithms. Odds ratios (ORs) and 95% confidence intervals (CIs) estimated the association between LOY or LOY components and EOC among 26 204 control participants and 21 267 case patients from 25 studies. To assess whether LOY components act through ovulation suppression alone, we compared beta coefficients obtained from regression models with expected estimates assuming 1 year of ovulation suppression has the same effect regardless of source.ResultsLOY was associated with increased EOC risk (OR per year increase = 1.014, 95% CI = 1.009 to 1.020 to OR per year increase = 1.044, 95% CI = 1.041 to 1.048). Individual LOY components, except age at menarche, also associated with EOC. The estimated model coefficient for oral contraceptive use and pregnancies were 4.45 times and 12- to 15-fold greater than expected, respectively. LOY was associated with high-grade serous, low-grade serous, endometrioid, and clear cell histotypes (ORs per year increase = 1.054, 1.040, 1.065, and 1.098, respectively) but not mucinous tumors. Estimated coefficients of LOY components were close to expected estimates for high-grade serous but larger than expected for low-grade serous, endometrioid, and clear cell histotypes.ConclusionsLOY is positively associated with nonmucinous EOC. Differences between estimated and expected model coefficients for LOY components suggest factors beyond ovulation underlie the associations between LOY components and EOC in general and for non-HGSOC.
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- 2023
16. Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival
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Lopes Cardozo, Josephine MN, Andrulis, Irene L, Bojesen, Stig E, Dörk, Thilo, Eccles, Diana M, Fasching, Peter A, Hooning, Maartje J, Keeman, Renske, Nevanlinna, Heli, Rutgers, Emiel JT, Easton, Douglas F, Hall, Per, Pharoah, Paul DP, van 't Veer, Laura J, Schmidt, Marjanka K, Ahearn, Thomas U, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bolla, Manjeet K, Bonanni, Bernardo, Boyle, Terry, Brenner, Hermann, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Camp, Nicola J, Canzian, Federico, Cardoso, Fatima, Castelao, Jose E, Cessna, Melissa H, Chan, Tsun L, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Colonna, Sarah V, Copson, Ellen, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Drukker, Caroline A, Dunning, Alison M, Dwek, Miriam, Eliassen, A Heather, Engel, Christoph, Evans, D Gareth, Figueroa, Jonine D, Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Genkinger, Jeanine, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hartman, Mikael, Heemskerk-Gerritsen, Bernadette AM, Hein, Alexander, Ho, Weang-Kee, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Hunter, David J, Ito, Hidemi, Jakubowska, Anna, Jernström, Helena, John, Esther M, Johnson, Nichola, Jones, Michael E, Joseph, Vijai, Kaaks, Rudolf, Kang, Daehee, Kim, Sung-Won, Kitahara, Cari M, Koppert, Linetta B, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, and Koutros, Stella
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Breast Cancer ,Cancer ,Good Health and Well Being ,Female ,Humans ,Breast Neoplasms ,Risk Factors ,Prognosis ,Proportional Hazards Models ,Breast ,Breast Cancer Association Consortium and MINDACT Collaborators ,Clinical Sciences ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
PurposeA polygenic risk score (PRS) consisting of 313 common genetic variants (PRS313) is associated with risk of breast cancer and contralateral breast cancer. This study aimed to evaluate the association of the PRS313 with clinicopathologic characteristics of, and survival following, breast cancer.MethodsWomen with invasive breast cancer were included, 98,397 of European ancestry and 12,920 of Asian ancestry, from the Breast Cancer Association Consortium (BCAC), and 683 women from the European MINDACT trial. Associations between PRS313 and clinicopathologic characteristics, including the 70-gene signature for MINDACT, were evaluated using logistic regression analyses. Associations of PRS313 (continuous, per standard deviation) with overall survival (OS) and breast cancer-specific survival (BCSS) were evaluated with Cox regression, adjusted for clinicopathologic characteristics and treatment.ResultsThe PRS313 was associated with more favorable tumor characteristics. In BCAC, increasing PRS313 was associated with lower grade, hormone receptor-positive status, and smaller tumor size. In MINDACT, PRS313 was associated with a low risk 70-gene signature. In European women from BCAC, higher PRS313 was associated with better OS and BCSS: hazard ratio (HR) 0.96 (95% CI, 0.94 to 0.97) and 0.96 (95% CI, 0.94 to 0.98), but the association disappeared after adjustment for clinicopathologic characteristics (and treatment): OS HR, 1.01 (95% CI, 0.98 to 1.05) and BCSS HR, 1.02 (95% CI, 0.98 to 1.07). The results in MINDACT and Asian women from BCAC were consistent.ConclusionAn increased PRS313 is associated with favorable tumor characteristics, but is not independently associated with prognosis. Thus, PRS313 has no role in the clinical management of primary breast cancer at the time of diagnosis. Nevertheless, breast cancer mortality rates will be higher for women with higher PRS313 as increasing PRS313 is associated with an increased risk of disease. This information is crucial for modeling effective stratified screening programs.
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- 2023
17. Dietary amino acids and risk of stroke subtypes: a prospective analysis of 356,000 participants in seven European countries
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Tong, Tammy Y. N., Clarke, Robert, Schmidt, Julie A., Huybrechts, Inge, Noor, Urwah, Forouhi, Nita G., Imamura, Fumiaki, Travis, Ruth C., Weiderpass, Elisabete, Aleksandrova, Krasimira, Dahm, Christina C., van der Schouw, Yvonne T., Overvad, Kim, Kyrø, Cecilie, Tjønneland, Anne, Kaaks, Rudolf, Katzke, Verena, Schiborn, Catarina, Schulze, Matthias B., Mayen-Chacon, Ana-Lucia, Masala, Giovanna, Sieri, Sabina, de Magistris, Maria Santucci, Tumino, Rosario, Sacerdote, Carlotta, Boer, Jolanda M. A., Verschuren, W. M. Monique, Brustad, Magritt, Nøst, Therese Haugdahl, Crous-Bou, Marta, Petrova, Dafina, Amiano, Pilar, Huerta, José María, Moreno-Iribas, Conchi, Engström, Gunnar, Melander, Olle, Johansson, Kristina, Lindvall, Kristina, Aglago, Elom K., Heath, Alicia K., Butterworth, Adam S., Danesh, John, and Key, Timothy J.
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- 2024
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18. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
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Middha, Pooja, Wang, Xiaoliang, Behrens, Sabine, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Augustinsson, Annelie, Baert, Thaïs, Freeman, Laura E Beane, Becher, Heiko, Beckmann, Matthias W, Benitez, Javier, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Castelao, Jose E, Chanock, Stephen J, Chenevix-Trench, Georgia, Cordina-Duverger, Emilie, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Dossus, Laure, Dugué, Pierre-Antoine, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine D, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Giles, Graham G, González-Neira, Anna, Grassmann, Felix, Grundy, Anne, Guénel, Pascal, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan E, Harkness, Elaine F, Holleczek, Bernd, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Hunter, David J, Ingvar, Christian, Isaksson, Karolin, Jernström, Helena, John, Esther M, Jones, Michael E, Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M, Ko, Yon-Dschun, Koutros, Stella, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Larson, Nicole L, Larsson, Susanna, Le Marchand, Loic, Lejbkowicz, Flavio, Li, Shuai, Linet, Martha, Lissowska, Jolanta, Martinez, Maria Elena, Maurer, Tabea, Mulligan, Anna Marie, Mulot, Claire, Murphy, Rachel A, Newman, William G, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, O’Brien, Katie M, Olson, Janet E, Patel, Alpa V, Prentice, Ross, Rees-Punia, Erika, Rennert, Gad, Rhenius, Valerie, Ruddy, Kathryn J, and Sandler, Dale P
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Cancer Genomics ,Human Genome ,Estrogen ,Cancer ,Women's Health ,Genetics ,Prevention ,Aging ,Breast Cancer ,2.1 Biological and endogenous factors ,Adult ,Female ,Humans ,Gene-Environment Interaction ,Genetic Predisposition to Disease ,Breast Neoplasms ,Bayes Theorem ,Genome-Wide Association Study ,Risk Factors ,Polymorphism ,Single Nucleotide ,Case-Control Studies ,Breast cancer ,Gene-environment interactions ,Genetic epidemiology ,European ancestry ,CTS Consortium ,ABCTB Investigators ,kConFab Investigators ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
BackgroundGenome-wide studies of gene-environment interactions (G×E) may identify variants associated with disease risk in conjunction with lifestyle/environmental exposures. We conducted a genome-wide G×E analysis of ~ 7.6 million common variants and seven lifestyle/environmental risk factors for breast cancer risk overall and for estrogen receptor positive (ER +) breast cancer.MethodsAnalyses were conducted using 72,285 breast cancer cases and 80,354 controls of European ancestry from the Breast Cancer Association Consortium. Gene-environment interactions were evaluated using standard unconditional logistic regression models and likelihood ratio tests for breast cancer risk overall and for ER + breast cancer. Bayesian False Discovery Probability was employed to assess the noteworthiness of each SNP-risk factor pairs.ResultsAssuming a 1 × 10-5 prior probability of a true association for each SNP-risk factor pairs and a Bayesian False Discovery Probability
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- 2023
19. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
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Mueller, Stefanie H, Lai, Alvina G, Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Baert, Thais, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y, Buys, Saundra S, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Choi, Ji-Yeob, Chung, Wendy K, Colonna, Sarah V, Cornelissen, Sten, Couch, Fergus J, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, García-Closas, Montserrat, García-Sáenz, José A, Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Harkness, Elaine F, Harrington, Patricia A, Hartikainen, Jaana M, Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Hunter, David J, Huo, Dezheng, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K, Kim, Sung-Won, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Kwong, Ava, Lacey, James V, Lambrechts, Diether, and Le Marchand, Loic
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Breast Cancer ,Genetics ,Clinical Research ,Cancer ,Aetiology ,2.1 Biological and endogenous factors ,Humans ,Female ,Breast Neoplasms ,Genetic Predisposition to Disease ,Black People ,Genetic Testing ,Genome-Wide Association Study ,Polymorphism ,Single Nucleotide ,Formins ,Breast cancer susceptibility ,Diverse ancestry ,Rare variants ,Gene regulation ,Genome-wide association study ,NBCS Collaborators ,CTS Consortium ,ABCTB Investigators ,Clinical Sciences - Abstract
BackgroundLow-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.MethodsWe evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry.ResultsIn European ancestry samples, 14 genes were significantly associated (q
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- 2023
20. Distinct Reproductive Risk Profiles for Intrinsic-Like Breast Cancer Subtypes: Pooled Analysis of Population-Based Studies
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Jung, Audrey Y, Ahearn, Thomas U, Behrens, Sabine, Middha, Pooja, Bolla, Manjeet K, Wang, Qin, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Freeman, Laura E Beane, Becher, Heiko, Brenner, Hermann, Canzian, Federico, Carey, Lisa A, Consortium, CTS, Czene, Kamila, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Figueroa, Jonine D, Fritschi, Lin, Gabrielson, Marike, Giles, Graham G, Guénel, Pascal, Hadjisavvas, Andreas, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Hunter, David J, Hüsing, Anika, Kaaks, Rudolf, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Lacey, James V, Le Marchand, Loic, Lissowska, Jolanta, Loizidou, Maria A, Mannermaa, Arto, Maurer, Tabea, Murphy, Rachel A, Olshan, Andrew F, Olsson, Håkan, Patel, Alpa V, Perou, Charles M, Rennert, Gad, Shibli, Rana, Shu, Xiao-Ou, Southey, Melissa C, Stone, Jennifer, Tamimi, Rulla M, Teras, Lauren R, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Wang, Sophia S, Wolk, Alicja, Wu, Anna H, Yang, Xiaohong R, Zheng, Wei, Dunning, Alison M, Pharoah, Paul DP, Easton, Douglas F, Milne, Roger L, Chatterjee, Nilanjan, Schmidt, Marjanka K, García-Closas, Montserrat, and Chang-Claude, Jenny
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Cancer ,Breast Cancer ,Aging ,Reproductive health and childbirth ,Female ,Humans ,Breast Neoplasms ,Receptor ,ErbB-2 ,Receptors ,Progesterone ,Receptors ,Estrogen ,Triple Negative Breast Neoplasms ,Case-Control Studies ,Risk Factors ,Biomarkers ,Tumor ,CTS Consortium ,Receptor ,erbB-2 ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
BackgroundReproductive factors have been shown to be differentially associated with risk of estrogen receptor (ER)-positive and ER-negative breast cancer. However, their associations with intrinsic-like subtypes are less clear.MethodsAnalyses included up to 23 353 cases and 71 072 controls pooled from 31 population-based case-control or cohort studies in the Breast Cancer Association Consortium across 16 countries on 4 continents. Polytomous logistic regression was used to estimate the association between reproductive factors and risk of breast cancer by intrinsic-like subtypes (luminal A-like, luminal B-like, luminal B-HER2-like, HER2-enriched-like, and triple-negative breast cancer) and by invasiveness. All statistical tests were 2-sided.ResultsCompared with nulliparous women, parous women had a lower risk of luminal A-like, luminal B-like, luminal B-HER2-like, and HER2-enriched-like disease. This association was apparent only after approximately 10 years since last birth and became stronger with increasing time (odds ratio [OR] = 0.59, 95% confidence interval [CI] = 0.49 to 0.71; and OR = 0.36, 95% CI = 0.28 to 0.46 for multiparous women with luminal A-like tumors 20 to less than 25 years after last birth and 45 to less than 50 years after last birth, respectively). In contrast, parous women had a higher risk of triple-negative breast cancer right after their last birth (for multiparous women: OR = 3.12, 95% CI = 2.02 to 4.83) that was attenuated with time but persisted for decades (OR = 1.03, 95% CI = 0.79 to 1.34, for multiparous women 25 to less than 30 years after last birth). Older age at first birth (Pheterogeneity < .001 for triple-negative compared with luminal A-like breast cancer) and breastfeeding (Pheterogeneity < .001 for triple-negative compared with luminal A-like breast cancer) were associated with lower risk of triple-negative breast cancer but not with other disease subtypes. Younger age at menarche was associated with higher risk of all subtypes; older age at menopause was associated with higher risk of luminal A-like but not triple-negative breast cancer. Associations for in situ tumors were similar to luminal A-like.ConclusionsThis large and comprehensive study demonstrates a distinct reproductive risk factor profile for triple-negative breast cancer compared with other subtypes, with implications for the understanding of disease etiology and risk prediction.
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- 2022
21. Mild-to-Moderate Kidney Dysfunction and Cardiovascular Disease: Observational and Mendelian Randomization Analyses.
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Gaziano, Liam, Sun, Luanluan, Arnold, Matthew, Bell, Steven, Cho, Kelly, Kaptoge, Stephen, Song, Rebecca, Burgess, Stephen, Posner, Daniel, Mosconi, Katja, Robinson-Cohen, Cassianne, Mason, Amy, Bolton, Thomas, Tao, Ran, Allara, Elias, Schubert, Petra, Chen, Lingyan, Staley, James, Staplin, Natalie, Altay, Servet, Amiano, Pilar, Arndt, Volker, Ärnlöv, Johan, Barr, Elizabeth, Björkelund, Cecilia, Boer, Jolanda, Brenner, Hermann, Casiglia, Edoardo, Chiodini, Paolo, Cooper, Jackie, Coresh, Josef, Cushman, Mary, Dankner, Rachel, Davidson, Karina, de Jongh, Renate, Donfrancesco, Chiara, Engström, Gunnar, Freisling, Heinz, de la Cámara, Agustín, Gudnason, Vilmundur, Hankey, Graeme, Hansson, Per-Olof, Heath, Alicia, Hoorn, Ewout, Imano, Hironori, Jassal, Simerjot, Kaaks, Rudolf, Katzke, Verena, Kauhanen, Jussi, Kiechl, Stefan, Koenig, Wolfgang, Kronmal, Richard, Kyrø, Cecilie, Lawlor, Deborah, Ljungberg, Börje, MacDonald, Conor, Masala, Giovanna, Meisinger, Christa, Melander, Olle, Moreno Iribas, Conchi, Ninomiya, Toshiharu, Nitsch, Dorothea, Nordestgaard, Børge, Onland-Moret, Charlotte, Palmieri, Luigi, Petrova, Dafina, Garcia, Jose, Rosengren, Annika, Sacerdote, Carlotta, Sakurai, Masaru, Santiuste, Carmen, Schulze, Matthias, Sieri, Sabina, Sundström, Johan, Tikhonoff, Valérie, Tjønneland, Anne, Tong, Tammy, Tumino, Rosario, Tzoulaki, Ioanna, van der Schouw, Yvonne, Monique Verschuren, W, Völzke, Henry, Wallace, Robert, Wannamethee, S, Weiderpass, Elisabete, Willeit, Peter, Woodward, Mark, Yamagishi, Kazumasa, Zamora-Ros, Raul, Akwo, Elvis, Pyarajan, Saiju, Gagnon, David, Tsao, Philip, Muralidhar, Sumitra, Edwards, Todd, Damrauer, Scott, Joseph, Jacob, Pennells, Lisa, Wilson, Peter, and Harrison, Seamus
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cardiovascular diseases ,coronary disease ,kidney diseases ,stroke ,Humans ,Mendelian Randomization Analysis ,Prospective Studies ,Cardiovascular Diseases ,Coronary Disease ,Risk Factors ,Diabetes Mellitus ,Stroke ,Kidney - Abstract
BACKGROUND: End-stage renal disease is associated with a high risk of cardiovascular events. It is unknown, however, whether mild-to-moderate kidney dysfunction is causally related to coronary heart disease (CHD) and stroke. METHODS: Observational analyses were conducted using individual-level data from 4 population data sources (Emerging Risk Factors Collaboration, EPIC-CVD [European Prospective Investigation into Cancer and Nutrition-Cardiovascular Disease Study], Million Veteran Program, and UK Biobank), comprising 648 135 participants with no history of cardiovascular disease or diabetes at baseline, yielding 42 858 and 15 693 incident CHD and stroke events, respectively, during 6.8 million person-years of follow-up. Using a genetic risk score of 218 variants for estimated glomerular filtration rate (eGFR), we conducted Mendelian randomization analyses involving 413 718 participants (25 917 CHD and 8622 strokes) in EPIC-CVD, Million Veteran Program, and UK Biobank. RESULTS: There were U-shaped observational associations of creatinine-based eGFR with CHD and stroke, with higher risk in participants with eGFR values 105 mL·min-1·1.73 m-2, compared with those with eGFR between 60 and 105 mL·min-1·1.73 m-2. Mendelian randomization analyses for CHD showed an association among participants with eGFR 105 mL·min-1·1.73 m-2. Results were not materially different after adjustment for factors associated with the eGFR genetic risk score, such as lipoprotein(a), triglycerides, hemoglobin A1c, and blood pressure. Mendelian randomization results for stroke were nonsignificant but broadly similar to those for CHD. CONCLUSIONS: In people without manifest cardiovascular disease or diabetes, mild-to-moderate kidney dysfunction is causally related to risk of CHD, highlighting the potential value of preventive approaches that preserve and modulate kidney function.
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- 2022
22. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
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Dixon-Suen, Suzanne C, Lewis, Sarah J, Martin, Richard M, English, Dallas R, Boyle, Terry, Giles, Graham G, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Investigators, ABCTB, Ahearn, Thomas U, Ambrosone, Christine B, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Auvinen, Päivi, Freeman, Laura E Beane, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S, Camp, Nicola J, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Cessna, Melissa H, Chang-Claude, Jenny, Chanock, Stephen J, Clarke, Christine L, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Goldberg, Mark S, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Häberle, Lothar, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Harvie, Michelle, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J, Hoppe, Reiner, Hopper, John, Howell, Anthony, Hunter, David J, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Loibl, Sibylle, Lubiński, Jan, Mannermaa, Arto, and Manoochehri, Mehdi
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Aging ,Genetics ,Breast Cancer ,Clinical Research ,Cancer ,Prevention ,Female ,Humans ,Breast Neoplasms ,Exercise ,Mendelian Randomization Analysis ,Polymorphism ,Single Nucleotide ,Risk Factors ,Sedentary Behavior ,Breast Cancer Association Consortium ,Breast ,Physical activity ,Sedentary Behaviour ,Engineering ,Medical and Health Sciences ,Education ,Sport Sciences - Abstract
ObjectivesPhysical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or sedentary time, assessed using genotype, may be causally associated with breast cancer risk overall, pre/post-menopause, and by case-groups defined by tumour characteristics.MethodsWe performed two-sample inverse-variance-weighted MR using individual-level Breast Cancer Association Consortium case-control data from 130 957 European-ancestry women (69 838 invasive cases), and published UK Biobank data (n=91 105-377 234). Genetic instruments were single nucleotide polymorphisms (SNPs) associated in UK Biobank with wrist-worn accelerometer-measured overall physical activity (nsnps=5) or sedentary time (nsnps=6), or accelerometer-measured (nsnps=1) or self-reported (nsnps=5) vigorous physical activity.ResultsGreater genetically-predicted overall activity was associated with lower breast cancer overall risk (OR=0.59; 95% confidence interval (CI) 0.42 to 0.83 per-standard deviation (SD;~8 milligravities acceleration)) and for most case-groups. Genetically-predicted vigorous activity was associated with lower risk of pre/perimenopausal breast cancer (OR=0.62; 95% CI 0.45 to 0.87,≥3 vs. 0 self-reported days/week), with consistent estimates for most case-groups. Greater genetically-predicted sedentary time was associated with higher hormone-receptor-negative tumour risk (OR=1.77; 95% CI 1.07 to 2.92 per-SD (~7% time spent sedentary)), with elevated estimates for most case-groups. Results were robust to sensitivity analyses examining pleiotropy (including weighted-median-MR, MR-Egger).ConclusionOur study provides strong evidence that greater overall physical activity, greater vigorous activity, and lower sedentary time are likely to reduce breast cancer risk. More widespread adoption of active lifestyles may reduce the burden from the most common cancer in women.
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- 2022
23. Nutritional quality of diet characterized by the Nutri-Score profiling system and cardiovascular disease risk: a prospective study in 7 European countries
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Deschasaux-Tanguy, Mélanie, Huybrechts, Inge, Julia, Chantal, Hercberg, Serge, Sarda, Barthélémy, Fialon, Morgane, Arnault, Nathalie, Srour, Bernard, Kesse-Guyot, Emmanuelle, Fezeu, Léopold K., Biessy, Carine, Casagrande, Corinne, Hemon, Bertrand, Weiderpass, Elisabete, Pinho, Maria G.M., Murphy, Neil, Freisling, Heinz, Ferrari, Pietro, Tjønneland, Anne, Nielsen Petersen, Kristina Elin, Katzke, Verena, Kaaks, Rudolf, Schulze, Matthias B., Masala, Giovanna, Pala, Valeria, Panico, Salvatore, Ricceri, Fulvio, Verschuren, W.M.Monique, Boer, Jolanda M.A., van der Schouw, Yvonne T., Skeie, Guri, Agudo, Antonio, Molina-Montes, Esther, Huerta, José María, Moreno-Iribas, Conchi, Ericson, Ulrika, Sonestedt, Emily, Strid, Anna, Oskarsson, Viktor, Tong, Tammy Y.N., Heath, Alicia K., Aglago, Elom K., Danesh, John, Riboli, Elio, Gunter, Marc J., and Touvier, Mathilde
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- 2024
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24. Circulating inflammatory and immune response proteins and endometrial cancer risk: a nested case-control study and Mendelian randomization analyses
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Wang, Sabrina E., Viallon, Vivian, Lee, Matthew, Dimou, Niki, Hamilton, Fergus, Biessy, Carine, O'Mara, Tracy, Kyrgiou, Maria, Crosbie, Emma J., Truong, Therese, Severi, Gianluca, Kaaks, Rudolf, Fortner, Renée Turzanski, Schulze, Matthias B., Bendinelli, Benedetta, Sabina, Sieri, Tumino, Rosario, Sacerdote, Carlotta, Panico, Salvatore, Crous-Bou, Marta, Sánchez, Maria-Jose, Aizpurua, Amaia, Palacios, Daniel Rodriguez, Guevara, Marcela, Travis, Ruth C., Tsilidis, Konstantinos K., Heath, Alicia, Yarmolinsky, James, Rinaldi, Sabina, Gunter, Marc J., and Dossus, Laure
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- 2024
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25. Large cell carcinoma of the lung: LDCT features and survival in screen-detected cases
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Mascalchi, Mario, Puliti, Donella, Cavigli, Edoardo, Cortés-Ibáñez, Francisco O, Picozzi, Giulia, Carrozzi, Laura, Gorini, Giuseppe, Delorme, Stefan, Zompatori, Maurizio, Raffaella De Luca, Giulia, Diciotti, Stefano, Eva Comin, Camilla, Alì, Greta, and Kaaks, Rudolf
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- 2024
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26. Diet and lifestyle in relation to small intestinal cancer risk: findings from the European Prospective Investigation into Cancer and Nutrition (EPIC)
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Ersoy Guller, Zeynep, Harewood, Rhea N., Weiderpass, Elisabete, Huybrechts, Inge, Jenab, Mazda, Huerta, José María, Sánchez, Maria-Jose, Jakszyn, Paula, Amiano, Pilar, Ardanaz, Eva, Agnoli, Claudia, Tumino, Rosario, Palli, Domenico, Skeie, Guri, Manjer, Jonas, Papier, Keren, Tjønneland, Anne, Eriksen, Anne Kirstine, Schulze, Matthias B., Kaaks, Rudolf, Katzke, Verena, Bergmann, Manuela M., Riboli, Elio, Gunter, Marc J., and Cross, Amanda J.
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- 2023
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27. General and abdominal adiposity and hypertension in eight world regions: a pooled analysis of 837 population-based studies with 7·5 million participants
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Zhou, Bin, Bennett, James E, Wickham, Aidan P, Singleton, Rosie K, Mishra, Anu, Carrillo-Larco, Rodrigo M, Ikeda, Nayu, Jain, Lakshya, Barradas-Pires, Ana, Heap, Rachel A, Lhoste, Victor PF, Sheffer, Kate E, Phelps, Nowell H, Rayner, Archie W, Gregg, Edward W, Woodward, Mark, Stevens, Gretchen A, Iurilli, Maria LC, Danaei, Goodarz, Di Cesare, Mariachiara, Aguilar-Salinas, Carlos A, Ahmad, Noor Ani, Bovet, Pascal, Chen, Zhengming, Damasceno, Albertino, Filippi, Sarah L, Janszky, Imre, Kengne, Andre P, Khang, Young-Ho, Khunti, Kamlesh, Laxmaiah, Avula, Lim, Lee-Ling, Lissner, Lauren, Margozzini, Paula, Mbanya, Jean Claude N, McGarvey, Stephen T, Shaw, Jonathan E, Söderberg, Stefan, Soto-Mota, Luis Adrián, Wang, Junyang, Zaccardi, Francesco, Abarca-Gómez, Leandra, Abbasi-Kangevari, Mohsen, Abdrakhmanova, Shynar, Abdul Ghaffar, Suhaila, Abdul Rahim, Hanan F, Abdurrahmonova, Zulfiya, Abu-Rmeileh, Niveen M, Acosta-Cazares, Benjamin, Adam, Ishag, Adamczyk, Marzena, Aekplakorn, Wichai, Agdeppa, Imelda A, Aghazadeh-Attari, Javad, Agyemang, Charles, Ahmad, Mohamad Hasnan, Ahmadi, Ali, Ahmadi, Naser, Ahmadi, Nastaran, Ahmed, Soheir H, Ahrens, Wolfgang, Aitmurzaeva, Gulmira, Ajlouni, Kamel, Al-Hazzaa, Hazzaa M, Al-Hinai, Halima, Al-Lawati, Jawad A, Al-Raddadi, Rajaa, Al Asfoor, Deena, Al Hourani, Huda M, Alarouj, Monira, AlBuhairan, Fadia, AlDhukair, Shahla, Ali, Mohamed M, Alieva, Anna V, Alkandari, Abdullah, Alkhatib, Buthaina M, Aly, Eman, Amarapurkar, Deepak N, Amiano Etxezarreta, Pilar, Amougou, Norbert, Andersen, Lars Bo, Anderssen, Sigmund A, Androutsos, Odysseas, Anjana, Ranjit Mohan, Ansari-Moghaddam, Alireza, Anufrieva, Elena, Aounallah-Skhiri, Hajer, Aris, Tahir, Arku, Raphael E, Arlappa, Nimmathota, Aryal, Krishna K, Assah, Felix K, Assembekov, Batyrbek, Assunção, Maria Cecília F, Auvinen, Juha, Avdičová, Mária, Azad, Kishwar, Azevedo, Ana, Azimi-Nezhad, Mohsen, Azizi, Fereidoun, Bacopoulou, Flora, Bahijri, Suhad, Bajramovic, Izet, Balakrishna, Nagalla, Bamoshmoosh, Mohamed, Banach, Maciej, Bandosz, Piotr, Banegas, José R, Baran, Rafał, Barbagallo, Carlo M, Barbosa Filho, Valter, Barceló, Alberto, Baretić, Maja, Barnoya, Joaquin, Barrera, Lena, Barros, Aluisio JD, Barros, Mauro Virgílio Gomes, Basit, Abdul, Bastos, Joao Luiz, Batieha, Anwar M, Batista, Aline P, Batista, Rosangela L, Battakova, Zhamilya, Baur, Louise A, Bayauli, Pascal M, Bel-Serrat, Silvia, Belavendra, Antonisamy, Ben Romdhane, Habiba, Benedek, Theodora, Benedics, Judith, Benet, Mikhail, Benitez Rolandi, Gilda Estela, Benzeval, Michaela, Bere, Elling, Berger, Nicolas, Bergh, Ingunn Holden, Berkinbayev, Salim, Bernabe-Ortiz, Antonio, Bettiol, Heloísa, Beybey, Augustin F, Bezerra, Jorge, Bhagyalaxmi, Aroor, Bhargava, Santosh K, Bika Lele, Elysée Claude, Bikbov, Mukharram M, Bista, Bihungum, Bjelica, Dusko J, Bjerregaard, Peter, Bjertness, Espen, Bjertness, Marius B, Björkelund, Cecilia, Bloch, Katia V, Blokstra, Anneke, Bo, Simona, Bobak, Martin, Boddy, Lynne M, Boehm, Bernhard O, Boggia, Jose G, Bogova, Elena, Bonaccio, Marialaura, Bonilla-Vargas, Alice, Borghs, Herman, Botomba, Steve, Bourne, Rupert, Boymatova, Khadichamo, Braeckman, Lutgart, Braithwaite, Tasanee, Brajkovich, Imperia, Branca, Francesco, Brenner, Hermann, Brewster, Lizzy M, Briceño, Yajaira, Brinduse, Lacramioara, Bringolf-Isler, Bettina, Brito, Miguel, Brug, Johannes, Bugge, Anna, Buntinx, Frank, Buoncristiano, Marta, Burns, Con, Cabrera de León, Antonio, Caixeta, Roberta B, Cama, Tilema, Can, Günay, Cândido, Ana Paula C, Cañete, Felicia, Capanzana, Mario V, Čapková, Naděžda, Capuano, Eduardo, Capuano, Rocco, Capuano, Vincenzo, Cardoso, Viviane C, Carlsson, Axel C, Casanueva, Felipe F, Casas, Maribel, Censi, Laura, Cervantes‐Loaiza, Marvin, Chamnan, Parinya, Chamukuttan, Snehalatha, Chan, Queenie, Chaturvedi, Nish, Chen, Fangfang, Chen, Huashuai, Chen, Long-Sheng, Cheng, Yiling J, Cheraghian, Bahman, Chetrit, Angela, Chikova-Iscener, Ekaterina, Chinapaw, Mai JM, Chinnock, Anne, Chiolero, Arnaud, Chirita-Emandi, Adela, Chirlaque, María-Dolores, Chong, Chean Lin, Christofaro, Diego G, Chudek, Jerzy, Cifkova, Renata, Cirillo, Massimo, Claessens, Frank, Clare, Philip, Cohen, Emmanuel, Confortin, Susana C, Coppinger, Tara C, Cortés, Lilia Yadira, Cosmin, Cojocaru R, Costanzo, Simona, Cowan, Melanie J, Cowell, Chris, Crampin, Amelia C, Cross, Amanda J, Crujeiras, Ana B, Cruz, Juan J, Cucu, Alexandra M, Cureau, Felipe V, Cuschieri, Sarah, D'Arrigo, Graziella, d'Orsi, Eleonora, da Silva-Ferreira, Haroldo, Dahm, Christina C, Dallongeville, Jean, Dankner, Rachel, Davletov, Kairat, de Assis Guedes de Vasconcelos, Francisco, de Assis, Maria Alice Altenburg, De Bacquer, Dirk, De Bacquer, Jaco, de Bont, Jeroen, De Curtis, Amalia, de Fragas Hinnig, Patrícia, de Gaetano, Giovanni, De Henauw, Stefaan, De Miguel-Etayo, Pilar, de Oliveira, Paula Duarte, de Paiva, Karina Mary, De Ridder, Karin, de Valois Correia Júnior, Marco Aurélio, Deepa, Mohan, DeGennaro, Vincent Jr, 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28. Likelihood of Post-COVID Condition in people with hybrid immunity; data from the German National Cohort (NAKO)
- Author
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Mikolajczyk, Rafael, Diexer, Sophie, Klee, Bianca, Pfrommer, Laura, Purschke, Oliver, Fricke, Julia, Ahnert, Peter, Gabrysch, Sabine, Gottschick, Cornelia, Bohn, Barbara, Brenner, Hermann, Buck, Christoph, Castell, Stefanie, Gastell, Sylvia, Greiser, Karin Halina, Harth, Volker, Heise, Jana-Kristin, Holleczek, Bernd, Kaaks, Rudolf, Keil, Thomas, Krist, Lilian, Leitzmann, Michael, Lieb, Wolfgang, Meinke-Franze, Claudia, Michels, Karin B., Velásquez, Ilais Moreno, Obi, Nadia, Panreck, Leo, Peters, Annette, Pischon, Tobias, Schikowski, Tamara, Schmidt, Börge, Standl, Marie, Stang, Andreas, Völzke, Henry, Weber, Andrea, Zeeb, Hajo, and Karch, André
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- 2024
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29. Body mass index and cancer risk among adults with and without cardiometabolic diseases: evidence from the EPIC and UK Biobank prospective cohort studies
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Fontvieille, Emma, Viallon, Vivian, Recalde, Martina, Cordova, Reynalda, Jansana, Anna, Peruchet-Noray, Laia, Lennon, Hannah, Heath, Alicia K., Aune, Dagfinn, Christakoudi, Sofia, Katzke, Verena, Kaaks, Rudolf, Inan-Eroglu, Elif, Schulze, Matthias B., Mellemkjær, Lene, Tjønneland, Anne, Overvad, Kim, Farràs, Marta, Petrova, Dafina, Amiano, Pilar, Chirlaque, María-Dolores, Moreno-Iribas, Conchi, Tin Tin, Sandar, Masala, Giovanna, Sieri, Sabina, Ricceri, Fulvio, Panico, Salvatore, May, Anne M., Monninkhof, Evelyn M., Weiderpass, Elisabete, Gunter, Marc J., Ferrari, Pietro, and Freisling, Heinz
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- 2023
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30. Circulating oxysterols and prognosis among women with a breast cancer diagnosis: results from the MARIE patient cohort
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Decker, Nina Sophia, Johnson, Theron, Vey, Johannes A., Le Cornet, Charlotte, Behrens, Sabine, Obi, Nadia, Kaaks, Rudolf, Chang-Claude, Jenny, and Fortner, Renée Turzanski
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- 2023
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31. Prospective and Mendelian randomization analyses on the association of circulating fatty acid binding protein 4 (FABP-4) and risk of colorectal cancer
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Nimptsch, Katharina, Aleksandrova, Krasimira, Pham, Thu Thi, Papadimitriou, Nikos, Janke, Jürgen, Christakoudi, Sofia, Heath, Alicia, Olsen, Anja, Tjønneland, Anne, Schulze, Matthias B., Katzke, Verena, Kaaks, Rudolf, van Guelpen, Bethany, Harbs, Justin, Palli, Domenico, Macciotta, Alessandra, Pasanisi, Fabrizio, Yohar, Sandra Milena Colorado, Guevara, Marcela, Amiano, Pilar, Grioni, Sara, Jakszyn, Paula Gabriela, Figueiredo, Jane C., Samadder, N. Jewel, Li, Christopher I., Moreno, Victor, Potter, John D., Schoen, Robert E., Um, Caroline Y., Weiderpass, Elisabete, Jenab, Mazda, Gunter, Marc J., and Pischon, Tobias
- Published
- 2023
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32. Lipopolysaccharide-binding protein and future Parkinson’s disease risk: a European prospective cohort
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Zhao, Yujia, Walker, Douglas I., Lill, Christina M., Bloem, Bastiaan R., Darweesh, Sirwan K. L., Pinto-Pacheco, Brismar, McNeil, Brooklyn, Miller, Gary W., Heath, Alicia K., Frissen, Myrthe, Petrova, Dafina, Sánchez, Maria-Jose, Chirlaque, María-Dolores, Guevara, Marcela, Zibetti, Maurizio, Panico, Salvatore, Middleton, Lefkos, Katzke, Verena, Kaaks, Rudolf, Riboli, Elio, Masala, Giovanna, Sieri, Sabina, Zamora-Ros, Raul, Amiano, Pilar, Jenab, Mazda, Peters, Susan, and Vermeulen, Roel
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- 2023
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33. A body shape index (ABSI) is associated inversely with post-menopausal progesterone-receptor-negative breast cancer risk in a large European cohort
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Christakoudi, Sofia, Tsilidis, Konstantinos K., Dossus, Laure, Rinaldi, Sabina, Weiderpass, Elisabete, Antoniussen, Christian S., Dahm, Christina C., Tjønneland, Anne, Mellemkjær, Lene, Katzke, Verena, Kaaks, Rudolf, Schulze, Matthias B., Masala, Giovanna, Grioni, Sara, Panico, Salvatore, Tumino, Rosario, Sacerdote, Carlotta, May, Anne M., Monninkhof, Evelyn M., Quirós, J. Ramón, Bonet, Catalina, Sánchez, Maria-Jose, Amiano, Pilar, Chirlaque, María-Dolores, Guevara, Marcela, Rosendahl, Ann H., Stocks, Tanja, Perez-Cornago, Aurora, Tin Tin, Sandar, Heath, Alicia K., Aglago, Elom K., Peruchet-Noray, Laia, Freisling, Heinz, and Riboli, Elio
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- 2023
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34. Buffy coat signatures of breast cancer risk in a prospective cohort study
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Chung, Felicia Fei-Lei, Maldonado, Sandra González, Nemc, Amelie, Bouaoun, Liacine, Cahais, Vincent, Cuenin, Cyrille, Salle, Aurelie, Johnson, Theron, Ergüner, Bekir, Laplana, Marina, Datlinger, Paul, Jeschke, Jana, Weiderpass, Elisabete, Kristensen, Vessela, Delaloge, Suzette, Fuks, François, Risch, Angela, Ghantous, Akram, Plass, Christoph, Bock, Christoph, Kaaks, Rudolf, and Herceg, Zdenko
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- 2023
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35. Circulating amino acid levels and colorectal cancer risk in the European Prospective Investigation into Cancer and Nutrition and UK Biobank cohorts
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Rothwell, Joseph A., Bešević, Jelena, Dimou, Niki, Breeur, Marie, Murphy, Neil, Jenab, Mazda, Wedekind, Roland, Viallon, Vivian, Ferrari, Pietro, Achaintre, David, Gicquiau, Audrey, Rinaldi, Sabina, Scalbert, Augustin, Huybrechts, Inge, Prehn, Cornelia, Adamski, Jerzy, Cross, Amanda J., Keun, Hector, Chadeau-Hyam, Marc, Boutron-Ruault, Marie-Christine, Overvad, Kim, Dahm, Christina C., Nøst, Therese Haugdahl, Sandanger, Torkjel M., Skeie, Guri, Zamora-Ros, Raul, Tsilidis, Kostas K., Eichelmann, Fabian, Schulze, Matthias B., van Guelpen, Bethany, Vidman, Linda, Sánchez, Maria-José, Amiano, Pilar, Ardanaz, Eva, Smith-Byrne, Karl, Travis, Ruth, Katzke, Verena, Kaaks, Rudolf, Derksen, Jeroen W. G., Colorado-Yohar, Sandra, Tumino, Rosario, Bueno-de-Mesquita, Bas, Vineis, Paolo, Palli, Domenico, Pasanisi, Fabrizio, Eriksen, Anne Kirstine, Tjønneland, Anne, Severi, Gianluca, and Gunter, Marc J.
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- 2023
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36. Endogenous estrogen receptor modulating oxysterols and breast cancer prognosis: Results from the MARIE patient cohort
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Decker, Nina Sophia, Johnson, Theron, Behrens, Sabine, Obi, Nadia, Kaaks, Rudolf, Chang-Claude, Jenny, and Fortner, Renée Turzanski
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- 2023
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37. Personality and the use of cancer screenings - Results of the German National Cohort
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Hajek, André, Becher, Heiko, Brenner, Hermann, Holleczek, Bernd, Katzke, Verena, Kaaks, Rudolf, Minnerup, Heike, Karch, André, Baurecht, Hansjörg, Leitzmann, Michael, Peters, Annette, Gastell, Sylvia, Ahrens, Wolfgang, Haug, Ulrike, Nimptsch, Katharina, Pischon, Tobias, Michels, Karin B., Dorrn, Anja, Klett-Tammen, Carolina J., Castell, Stefanie, Willich, Stefan N., Keil, Thomas, Schipf, Sabine, Meinke-Franze, Claudia, Harth, Volker, Obi, Nadia, and König, Hans-Helmut
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- 2024
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38. BMI and breast cancer risk around age at menopause
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Von Holle, Ann, Adami, Hans-Olov, Baglietto, Laura, Berrington de Gonzalez, Amy, Bertrand, Kimberly A., Blot, William, Chen, Yu, DeHart, Jessica Clague, Dossus, Laure, Eliassen, A. Heather, Fournier, Agnes, Garcia-Closas, Montse, Giles, Graham, Guevara, Marcela, Hankinson, Susan E., Heath, Alicia, Jones, Michael E., Joshu, Corinne E., Kaaks, Rudolf, Kirsh, Victoria A., Kitahara, Cari M., Koh, Woon-Puay, Linet, Martha S., Park, Hannah Lui, Masala, Giovanna, Mellemkjaer, Lene, Milne, Roger L., O'Brien, Katie M., Palmer, Julie R., Riboli, Elio, Rohan, Thomas E., Shrubsole, Martha J., Sund, Malin, Tamimi, Rulla, Tin Tin, Sandar, Visvanathan, Kala, Vermeulen, Roel CH, Weiderpass, Elisabete, Willett, Walter C., Yuan, Jian-Min, Zeleniuch-Jacquotte, Anne, Nichols, Hazel B., Sandler, Dale P., Swerdlow, Anthony J., Schoemaker, Minouk J., and Weinberg, Clarice R.
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- 2024
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39. Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults
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Phelps, Nowell H, Singleton, Rosie K, Zhou, Bin, Heap, Rachel A, Mishra, Anu, Bennett, James E, Paciorek, Christopher J, Lhoste, Victor PF, Carrillo-Larco, Rodrigo M, Stevens, Gretchen A, Rodriguez-Martinez, Andrea, Bixby, Honor, Bentham, James, Di Cesare, Mariachiara, Danaei, Goodarz, Rayner, Archie W, Barradas-Pires, Ana, Cowan, Melanie J, Savin, Stefan, Riley, Leanne M, Aguilar-Salinas, Carlos A, Baker, Jennifer L, Barkat, Amina, Bhutta, Zulfiqar A, Branca, Francesco, Caixeta, Roberta B, Cuschieri, Sarah, Farzadfar, Farshad, Ganapathy, Shubash, Ikeda, Nayu, Iotova, Violeta, Kengne, Andre P, Khang, Young-Ho, Laxmaiah, Avula, Lin, Hsien-Ho, Ma, Jun, Mbanya, Jean Claude N, Miranda, J Jaime, Pradeepa, Rajendra, Rodríguez-Artalejo, Fernando, Sorić, Maroje, Turley, Maria, Wang, Limin, Webster-Kerr, Karen, Aarestrup, Julie, Abarca-Gómez, Leandra, Abbasi-Kangevari, Mohsen, Abdeen, Ziad A, Abdrakhmanova, Shynar, Abdul Ghaffar, Suhaila, Abdul Rahim, Hanan F, Abdurrahmonova, Zulfiya, Abu-Rmeileh, Niveen M, Abubakar Garba, Jamila, Acosta-Cazares, Benjamin, Adam, Ishag, Adamczyk, Marzena, Adams, Robert J, Adu-Afarwuah, Seth, Aekplakorn, Wichai, Afsana, Kaosar, Afzal, Shoaib, Agbor, Valirie N, Agdeppa, Imelda A, Aghazadeh-Attari, Javad, Ågren, Åsa, Aguenaou, Hassan, Agyemang, Charles, Ahmad, Mohamad Hasnan, Ahmad, Noor Ani, Ahmadi, Ali, Ahmadi, Naser, Ahmadi, Nastaran, Ahmed, Imran, Ahmed, Soheir H, Ahrens, Wolfgang, Aitmurzaeva, Gulmira, Ajlouni, Kamel, Al-Hazzaa, Hazzaa M, Al-Hinai, Halima, Al-Lahou, Badreya, Al-Lawati, Jawad A, Al-Raddadi, Rajaa, Al Asfoor, Deena, Al Hourani, Huda M, Al Qaoud, Nawal M, Alarouj, Monira, AlBuhairan, Fadia, AlDhukair, Shahla, Aldwairji, Maryam A, Alexius, Sylvia, Ali, Mohamed M, Alieva, Anna V, Alkandari, Abdullah, Alkerwi, Ala'a, Alkhatib, Buthaina M, Allin, Kristine, Alomary, Shaker A, Alomirah, Husam F, Alshangiti, Arwa M, Alvarez-Pedrerol, Mar, Aly, Eman, Amarapurkar, Deepak N, Amiano Etxezarreta, Pilar, Amoah, John, Amougou, Norbert, Amouyel, Philippe, Andersen, Lars Bo, Anderssen, Sigmund A, Androutsos, Odysseas, Ängquist, Lars, Anjana, Ranjit Mohan, Ansari-Moghaddam, Alireza, Anufrieva, Elena, Aounallah-Skhiri, Hajer, Araújo, Joana, Ariansen, Inger, Aris, Tahir, Arku, Raphael E, Arlappa, Nimmathota, Aryal, Krishna K, Assefa, Nega, Aspelund, Thor, Assah, Felix K, Assembekov, Batyrbek, Assunção, Maria Cecília F, Aung, May Soe, Aurélio de Valois, Correia Júnior Marco, Auvinen, Juha, Avdičová, Mária, Avi, Shina, Azad, Kishwar, Azevedo, Ana, Azimi-Nezhad, Mohsen, Azizi, Fereidoun, Babu, Bontha V, Bacopoulou, Flora, Bæksgaard Jørgensen, Maja, Baharudin, Azli, Bahijri, Suhad, Bajramovic, Izet, Bakacs, Marta, Balakrishna, Nagalla, Balanova, Yulia, Bamoshmoosh, Mohamed, Banach, Maciej, Banegas, José R, Baran, Joanna, Baran, Rafał, Barbagallo, Carlo M, Barbosa Filho, Valter, Barceló, Alberto, Baretić, Maja, Barnoya, Joaquin, Barrera, Lena, Barreto, Marta, Barros, Aluisio JD, Barros, Mauro Virgílio Gomes, Bartosiewicz, Anna, Basit, Abdul, Bastos, Joao Luiz, Bata, Iqbal, Batieha, Anwar M, Batista, Aline P, Batista, Rosangela L, Battakova, Zhamilya, Baur, Louise A, Bayauli, Pascal M, Beaglehole, Robert, Bel-Serrat, Silvia, Belavendra, Antonisamy, Ben Romdhane, Habiba, Benedek, Theodora, Benedics, Judith, Benet, Mikhail, Benitez Rolandi, Gilda Estela, Benzeval, Michaela, Bere, Elling, Berger, Nicolas, Bergh, Ingunn Holden, Berhane, Yemane, Berkinbayev, Salim, Bernabe-Ortiz, Antonio, Bernotiene, Gailute, Berrios Carrasola, Ximena, Bettiol, Heloísa, Beutel, Manfred E, Beybey, Augustin F, Bezerra, Jorge, Bhagyalaxmi, Aroor, Bharadwaj, Sumit, Bhargava, Santosh K, Bi, Hongsheng, Bi, Yufang, Bia, Daniel, Biasch, Katia, Bika Lele, Elysée Claude, Bikbov, Mukharram M, Bista, Bihungum, Bjelica, Dusko J, Bjerregaard, Anne A, Bjerregaard, Peter, Bjertness, Espen, Bjertness, Marius B, Björkelund, Cecilia, Bloch, Katia V, Blokstra, Anneke, Blychfeld Magnazu, Moran, Bo, Simona, Bobak, Martin, Boddy, Lynne M, Boehm, Bernhard O, Boer, Jolanda MA, Boggia, Jose G, Bogova, Elena, Boissonnet, Carlos P, Bojesen, Stig E, Bonaccio, Marialaura, Bongard, Vanina, Bonilla-Vargas, Alice, Bopp, Matthias, Borghs, Herman, Botomba, Steve, Bourne, Rupert RA, Bovet, Pascal, Boymatova, Khadichamo, Braeckevelt, Lien, Braeckman, Lutgart, Bragt, Marjolijn CE, Braithwaite, Tasanee, Brajkovich, Imperia, Breckenkamp, Juergen, Breda, João, Brenner, Hermann, Brewster, Lizzy M, Brian, Garry R, Briceño, Yajaira, Brinduse, Lacramioara, Bringolf-Isler, Bettina, Brito, Miguel, Brophy, Sinead, Brug, Johannes, Bruno, Graziella, Bugge, Anna, Buoncristiano, Marta, Burazeri, Genc, Burns, Con, Cabrera de León, Antonio, Cacciottolo, Joseph, Cai, Hui, Cama, Tilema, Cameron, Christine, Camolas, José, Can, Günay, Cândido, Ana Paula c, Cañete, Felicia, Capanzana, Mario V, Čapková, Naděžda, Capuano, Eduardo, Capuano, Rocco, Capuano, Vincenzo, Cardol, Marloes, Cardoso, Viviane C, Carlsson, Axel C, Carmuega, Esteban, Carvalho, Joana, Casajús, José A, Casanueva, Felipe F, Casas, Maribel, Celikcan, Ertugrul, Censi, Laura, Cervantes-Loaiza, Marvin, Cesar, Juraci A, Chamnan, Parinya, Chamukuttan, Snehalatha, Chan, Angelique, Chan, Queenie, Charchar, Fadi J, Charles, Marie-Aline, Chaturvedi, Himanshu K, Chaturvedi, Nish, Che Abdul Rahim, Norsyamlina, Chee, Miao Li, Chen, Chien-Jen, Chen, Fangfang, Chen, Huashuai, Chen, Long-Sheng, Chen, Shuohua, Chen, Zhengming, Cheng, Ching-Yu, Cheng, Yiling J, Cheraghian, Bahman, Chetrit, Angela, Chikova-Iscener, Ekaterina, Chinapaw, Mai JM, Chinnock, Anne, Chiolero, Arnaud, Chiou, Shu-Ti, Chirita-Emandi, Adela, Chirlaque, María-Dolores, Cho, Belong, Christensen, Kaare, Christofaro, Diego G, Chudek, Jerzy, Cifkova, Renata, Cilia, Michelle, Cinteza, Eliza, Cirillo, Massimo, Claessens, Frank, Clare, Philip, Clarke, Janine, Clays, Els, Cohen, Emmanuel, Cojocaru, Cosmin R, Colorado-Yohar, Sandra, Compañ-Gabucio, Laura-María, Concin, Hans, Confortin, Susana C, Cooper, Cyrus, Coppinger, Tara C, Corpeleijn, Eva, Cortés, Lilia Yadira, Costanzo, Simona, Cottel, Dominique, Cowell, Chris, Craig, Cora L, Crampin, Amelia C, Cross, Amanda J, Crujeiras, Ana B, Cruz, Juan J, Csányi, Tamás, Csilla, Semánová, Cucu, Alexandra M, Cui, Liufu, Cureau, Felipe V, Czenczek-Lewandowska, Ewelina, D'Arrigo, Graziella, d'Orsi, Eleonora, da Silva, Alanna G, Dacica, Liliana, Dahm, Christina C, Dallongeville, Jean, Damasceno, Albertino, Damsgaard, Camilla T, Dankner, Rachel, Dantoft, Thomas M, Dasgupta, Parasmani, Dastgiri, Saeed, Dauchet, Luc, Davletov, Kairat, de Assis Guedes de Vasconcelos, Francisco, de Assis, Maria Alice Altenburg, De Backer, Guy, De Bacquer, Dirk, De Bacquer, Jaco, de Bont, Jeroen, De Curtis, Amalia, de Fragas Hinnig, Patrícia, de Gaetano, Giovanni, De Henauw, Stefaan, De Miguel-Etayo, Pilar, De Neve, Jan-Walter, Duarte de Oliveira, Paula, De Ridder, David, De Ridder, Karin, de Rooij, Susanne R, de Sá, Ana Carolina MGN, De Smedt, Delphine, Deepa, Mohan, Deev, Alexander D, DeGennaro, Vincent Jr, Delisle, Hélène, Delpeuch, Francis, Demarest, Stefaan, Dennison, Elaine, Dereń, Katarzyna, Deschamps, Valérie, Devrishov, Ruslan D, Dhimal, Meghnath, Di Castelnuovo, Augusto, Dias-da-Costa, Juvenal Soares, Díaz-Sánchez, María Elena, Diaz, Alejandro, Díaz Fernández, Pedro, Díez Ripollés, María Pilar, Dika, Zivka, Djalalinia, Shirin, Djordjic, Visnja, Do, Ha TP, Dobson, Annette J, Dominguez, Liria, Donati, Maria Benedetta, Donfrancesco, Chiara, Dong, Guanghui, Dong, Yanhui, Donoso, Silvana P, Döring, Angela, Dorobantu, Maria, Dorosty, Ahmad Reza, Dörr, Marcus, Doua, Kouamelan, Dragano, Nico, Drygas, Wojciech, Du, Shufa, Duan, Jia Li, Duante, Charmaine A, Duboz, Priscilla, Duleva, Vesselka L, Dulskiene, Virginija, Dumith, Samuel C, Dushpanova, Anar, Dwyer, Terence, Dyussupova, Azhar, Dzerve, Vilnis, Dziankowska-Zaborszczyk, Elzbieta, Ebrahimi, Narges, Echeverría, Guadalupe, Eddie, Ricky, Eftekhar, Ebrahim, Efthymiou, Vasiliki, Egbagbe, Eruke E, Eggertsen, Robert, Eghtesad, Sareh, Eiben, Gabriele, Ekelund, Ulf, El-Khateeb, Mohammad, El Ammari, Laila, El Ati, Jalila, Eldemire-Shearer, Denise, Elliott, Paul, Enang, Ofem, Endevelt, Ronit, Engle-Stone, Reina, Erasmus, Rajiv T, Erem, Cihangir, Ergor, Gul, Eriksen, Louise, Eriksson, Johan G, Escobedo-de la Peña, Jorge, Eslami, Saeid, Esmaeili, Ali, Evans, Alun, Evans, Roger G, Faeh, David, Fagherazzi, Guy, Fakhradiyev, Ildar, Fakhretdinova, Albina A, Fall, Caroline H, Faramarzi, Elnaz, Farjam, Mojtaba, Farrugia Sant'Angelo, Victoria, Farzi, Yosef, Fattahi, Mohammad Reza, Fawwad, Asher, Fawzi, Wafaie W, Felix-Redondo, Francisco J, Ferguson, Trevor S, Fernandes, Romulo A, Fernández-Bergés, Daniel, Ferrante, Daniel, Ferrao, Thomas, Ferrari, Gerson, Ferrari, Marika, Ferrario, Marco M, Ferreccio, Catterina, Ferreira, Haroldo S, Ferrer, Eldridge, Ferrieres, Jean, Figueiró, Thamara Hubler, Fijalkowska, Anna, Fink, Günther, Fisberg, Mauro, Fischer, Krista, Foo, Leng Huat, Forsner, Maria, Fottrell, Edward F, Fouad, Heba M, Francis, Damian K, Franco, Maria do Carmo, Fras, Zlatko, Fraser, Brooklyn, Frontera, Guillermo, Fuchs, Flavio D, Fuchs, Sandra C, Fujiati, Isti I, Fujita, Yuki, Fumihiko, Matsuda, Furdela, Viktoriya, Furusawa, Takuro, Gabriela, Stefan Adela, Gaciong, Zbigniew, Gafencu, Mihai, Galán Cuesta, Manuel, Galbarczyk, Andrzej, Galcheva, Sonya V, Galenkamp, Henrike, Galeone, Daniela, Galfo, Myriam, Galvano, Fabio, Gao, Jingli, Gao, Pei, Garcia-de-la-Hera, Manoli, García Mérida, María José, García Solano, Marta, Gareta, Dickman, Garnett, Sarah P, Gaspoz, Jean-Michel, Gasull, Magda, Gaya, Adroaldo Cesar Araujo, Gaya, Anelise Reis, Gazzinelli, Andrea, Gehring, Ulrike, Geiger, Harald, Geleijnse, Johanna M, George, Ronnie, Gerdts, Eva, Ghaderi, Ebrahim, Ghamari, Seyyed-Hadi, Ghanbari, Ali, Ghasemi, Erfan, Gheorghe-Fronea, Oana-Florentina, Gialluisi, Alessandro, Giampaoli, Simona, Gianfagna, Francesco, Gieger, Christian, Gill, Tiffany K, Giovannelli, Jonathan, Gironella, Glen, Giwercman, Aleksander, Gkiouras, Konstantinos, Glushkova, Natalya, Godara, Ramesh, Godos, Justyna, Gogen, Sibel, Goldberg, Marcel, Goltzman, David, Gómez, Georgina, Gómez Gómez, Jesús Humberto, Gomez, Luis F, Gómez, Santiago F, Gomula, Aleksandra, Gonçalves Cordeiro da Silva, Bruna, Gonçalves, Helen, Gonçalves, Mauer, González-Alvarez, Ana D, Gonzalez-Chica, David A, González-Gil, Esther M, Gonzalez-Gross, Marcela, González-Leon, Margot, González-Rivas, Juan P, González-Villalpando, Clicerio, González-Villalpando, María-Elena, Gonzalez, Angel R, Gottrand, Frederic, Graça, Antonio Pedro, Grafnetter, Dušan, Grajda, Aneta, Grammatikopoulou, Maria G, Gregg, Edward W, Gregor, Ronald D, Gregório, Maria João, Grøholt, Else Karin, Grøntved, Anders, Grosso, Giuseppe, Gruden, Gabriella, Gu, Dongfeng, Guajardo, Viviana, Gualdi-Russo, Emanuela, Guallar-Castillón, Pilar, Gualtieri, Andrea, Gudmundsson, Elias F, Gudnason, Vilmundur, Guerchet, Maëlenn, Guerrero, Ramiro, Guessous, 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Suárez-Medina, Ramón, Suarez-Ortegón, Milton F, Suebsamran, Phalakorn, Sugiyama, Mindy, Suka, Machi, Sulo, Gerhard, Sun, Chien-An, Sun, Liang, Sund, Malin, Sundström, Johan, Sung, Yn-Tz, Sunyer, Jordi, Suriyawongpaisal, Paibul, Sweis, Nabil William G, Swinburn, Boyd A, Sy, Rody G, Sylva, René Charles, Szponar, Lucjan, Tabone, Lorraine, Tai, E Shyong, Takuro, Furusawa, Tambalis, Konstantinos D, Tammesoo, Mari-Liis, Tamosiunas, Abdonas, Tan, Eng Joo, Tang, Xun, Tanrygulyyeva, Maya, Tanser, Frank, Tao, Yong, Tarawneh, Mohammed Rasoul, Tarp, Jakob, Tarqui-Mamani, Carolina B, Taxová Braunerová, Radka, Taylor, Anne, Taylor, Julie, Tchibindat, Félicité, Te Velde, Saskia, Tebar, William R, Tell, Grethe S, Tello, Tania, Tessema, Masresha, Tham, Yih Chung, Thankappan, KR, Theobald, Holger, Theodoridis, Xenophon, Thomas, Nihal, Thorand, Barbara, Thrift, Amanda G, Tichá, Ľubica, Timmermans, Erik J, Tjandrarini, Dwi Hapsari, Tjonneland, Anne, Tolonen, Hanna K, Tolstrup, Janne S, Tomaszewski, Maciej, Topbas, Murat, Topór-Mądry, Roman, Torheim, Liv Elin, Tornaritis, Michael J, Torrent, Maties, Torres-Collado, Laura, Toselli, Stefania, Touloumi, Giota, Traissac, Pierre, Tran, Thi Tuyet-Hanh, Tremblay, Mark S, Triantafyllou, Areti, Trichopoulos, Dimitrios, Trichopoulou, Antonia, Trinh, Oanh TH, Trivedi, Atul, Tshepo, Lechaba, Tsigga, Maria, Tsintavis, Panagiotis, Tsugane, Shoichiro, Tuitele, John, Tuliakova, Azaliia M, Tulloch-Reid, Marshall K, Tullu, Fikru, Tuomainen, Tomi-Pekka, Tuomilehto, Jaakko, Twig, Gilad, Tynelius, Per, Tzala, Evangelia, Tzotzas, Themistoklis, Tzourio, Christophe, Udoji, Nwannedimma, Ueda, Peter, Ugel, Eunice, Ukoli, Flora AM, Ulmer, Hanno, Unal, Belgin, Usupova, Zhamyila, Uusitalo, Hannu MT, Uysal, Nalan, Vaitkeviciute, Justina, Valdivia, Gonzalo, Vale, Susana, Valvi, Damaskini, van Dam, Rob M, van den Born, Bert-Jan, Van der Heyden, Johan, van der Schouw, Yvonne T, Van Herck, Koen, Van Lippevelde, Wendy, Van Minh, Hoang, Van Schoor, Natasja M, van Valkengoed, Irene GM, Vanderschueren, Dirk, Vanuzzo, Diego, Varbo, Anette, Varela-Moreiras, Gregorio, Vargas, Luz Nayibe, Varona-Pérez, Patricia, Vasan, Senthil K, Vasques, Daniel G, Vatasescu, Radu, Vega, Tomas, Veidebaum, Toomas, Velasquez-Melendez, Gustavo, Velika, Biruta, Verloigne, Maïté, Veronesi, Giovanni, Verschuren, WM Monique, Victora, Cesar G, Viegi, Giovanni, Viet, Lucie, Vik, Frøydis N, Vilar, Monica, Villalpando, Salvador, Vioque, Jesus, Viriyautsahakul, Napaphan, Virtanen, Jyrki K, Visser, Marjolein, Visvikis-Siest, Sophie, Viswanathan, Bharathi, Vladulescu, Mihaela, Vlasoff, Tiina, Vocanec, Dorja, Vollenweider, Peter, Völzke, Henry, Vourli, Georgia, Voutilainen, Ari, Vrijheid, Martine, Vrijkotte, Tanja GM, Vuletić, Silvije, Wade, Alisha N, Waldhör, Thomas, Walton, Janette, Wambiya, Elvis OA, Wan Bebakar, Wan Mohamad, Wan Mohamud, Wan Nazaimoon, Wanderley Júnior, Rildo de Souza, Wang, Chongjian, Wang, Huijun, Wang, Ming-Dong, Wang, Ningli, Wang, Qian, Wang, Xiangjun, Wang, Ya Xing, Wang, Ying-Wei, Wannamethee, S Goya, Wareham, Nicholas, Wartha, Olivia, Weber, Adelheid, Wedderkopp, Niels, Weghuber, Daniel, Wei, Wenbin, Weres, Aneta, Werner, Bo, Westbury, Leo D, Whincup, Peter H, Wichstrøm, Lars, Wickramasinghe, Kremlin, Widhalm, Kurt, Widyahening, Indah S, Więcek, Andrzej, Wild, Philipp S, Wilks, Rainford J, Willeit, Johann, Willeit, Peter, Williams, Julianne, Wilsgaard, Tom, Wirth, James P, Wojtyniak, Bogdan, Woldeyohannes, Meseret, Wolf, Kathrin, Wong-McClure, Roy A, Wong, Andrew, Wong, Emily B, Wong, Jyh Eiin, Wong, Tien Yin, Woo, Jean, Woodward, Mark, Wu, Frederick C, Wu, Hon-Yen, Wu, Jianfeng, Wu, Li Juan, Wu, Shouling, Wyszyńska, Justyna, Xu, Haiquan, Xu, Liang, Yaacob, Nor Azwany, Yamborisut, Uruwan, Yan, Li, Yan, Weili, Yang, Ling, Yang, Xiaoguang, Yang, Yang, Yardim, Nazan, Yasuharu, Tabara, Yépez García, Martha, Yiallouros, Panayiotis K, Yngve, Agneta, Yoosefi, Moein, Yoshihara, Akihiro, Yotov, Yoto, You, Qi Sheng, You, San-Lin, Younger-Coleman, Novie O, Yu, Yu-Ling, Yu, Yunjiang, Yusof, Safiah Md, Yusoff, Ahmad Faudzi, Zaccagni, Luciana, Zafiropulos, Vassilis, Zainuddin, Ahmad A, Zakavi, Seyed Rasoul, Zamani, Farhad, Zambon, Sabina, Zampelas, Antonis, Zamrazilová, Hana, Zapata, Maria Elisa, Zargar, Abdul Hamid, Zaw, Ko Ko, Zayed, Ayman A, Zdrojewski, Tomasz, Żegleń, Magdalena, Zejglicova, Kristyna, Zeljkovic Vrkic, Tajana, Zeng, Yi, Zentai, Andrea, Zhang, Bing, Zhang, Luxia, Zhang, Zhen-Yu, Zhao, Dong, Zhao, Ming-Hui, Zhao, Wenhua, Zhecheva, Yanitsa V, Zhen, Shiqi, Zheng, Wei, Zheng, Yingfeng, Zholdin, Bekbolat, Zhou, Maigeng, Zhu, Dan, Zimmet, Paul, Zins, Marie, Zitt, Emanuel, Zocalo, Yanina, Zoghlami, Nada, Zuñiga Cisneros, Julio, Zuziak, Monika, and Ezzati, Majid
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- 2024
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40. Association between pre-diagnostic circulating lipid metabolites and colorectal cancer risk: a nested case–control study in the European Prospective Investigation into Cancer and Nutrition (EPIC)
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Harewood, Rhea, Rothwell, Joseph A., Bešević, Jelena, Viallon, Vivian, Achaintre, David, Gicquiau, Audrey, Rinaldi, Sabina, Wedekind, Roland, Prehn, Cornelia, Adamski, Jerzy, Schmidt, Julie A., Jacobs, Inarie, Tjønneland, Anne, Olsen, Anja, Severi, Gianluca, Kaaks, Rudolf, Katzke, Verena, Schulze, Matthias B., Prada, Marcela, Masala, Giovanna, Agnoli, Claudia, Panico, Salvatore, Sacerdote, Carlotta, Jakszyn, Paula Gabriela, Sánchez, Maria-Jose, Castilla, Jesús, Chirlaque, María-Dolores, Atxega, Amaia Aizpurua, van Guelpen, Bethany, Heath, Alicia K., Papier, Keren, Tong, Tammy Y.N., Summers, Scott A., Playdon, Mary, Cross, Amanda J., Keski-Rahkonen, Pekka, Chajès, Véronique, Murphy, Neil, and Gunter, Marc J.
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- 2024
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41. Common variants in breast cancer risk loci predispose to distinct tumor subtypes
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Ahearn, Thomas U, Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Lush, Michael, Wang, Qin, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Alnæs, Grethe I Grenaker, Grip, Mervi, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N, Krüger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W, Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G, Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, and McLean, Catriona
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Human Genome ,Cancer ,Genetics ,Clinical Research ,Breast Cancer ,2.1 Biological and endogenous factors ,Aetiology ,Biomarkers ,Tumor ,Breast Neoplasms ,Female ,Genome-Wide Association Study ,Humans ,Receptor ,ErbB-2 ,Receptors ,Estrogen ,Receptors ,Progesterone ,Risk ,Breast cancer ,Etiologic heterogeneity ,Genetic predisposition ,Common breast cancer susceptibility variants ,NBCS Collaborators ,ABCTB Investigators ,kConFab/AOCS Investigators ,Receptor ,erbB-2 ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
BackgroundGenome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear.MethodsAmong 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes.ResultsEighty-five of 173 variants were associated with at least one tumor feature (false discovery rate
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- 2022
42. Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women
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Wang, Xiaoliang, Kapoor, Pooja Middha, Auer, Paul L, Dennis, Joe, Dunning, Alison M, Wang, Qin, Lush, Michael, Michailidou, Kyriaki, Bolla, Manjeet K, Aronson, Kristan J, Murphy, Rachel A, Brooks-Wilson, Angela, Lee, Derrick G, Cordina-Duverger, Emilie, Guénel, Pascal, Truong, Thérèse, Mulot, Claire, Teras, Lauren R, Patel, Alpa V, Dossus, Laure, Kaaks, Rudolf, Hoppe, Reiner, Lo, Wing-Yee, Brüning, Thomas, Hamann, Ute, Czene, Kamila, Gabrielson, Marike, Hall, Per, Eriksson, Mikael, Jung, Audrey, Becher, Heiko, Couch, Fergus J, Larson, Nicole L, Olson, Janet E, Ruddy, Kathryn J, Giles, Graham G, MacInnis, Robert J, Southey, Melissa C, Le Marchand, Loic, Wilkens, Lynne R, Haiman, Christopher A, Olsson, Håkan, Augustinsson, Annelie, Krüger, Ute, Wagner, Philippe, Scott, Christopher, Winham, Stacey J, Vachon, Celine M, Perou, Charles M, Olshan, Andrew F, Troester, Melissa A, Hunter, David J, Eliassen, Heather A, Tamimi, Rulla M, Brantley, Kristen, Andrulis, Irene L, Figueroa, Jonine, Chanock, Stephen J, Ahearn, Thomas U, García-Closas, Montserrat, Evans, Gareth D, Newman, William G, van Veen, Elke M, Howell, Anthony, Wolk, Alicja, Håkansson, Niclas, Anton-Culver, Hoda, Ziogas, Argyrios, Jones, Michael E, Orr, Nick, Schoemaker, Minouk J, Swerdlow, Anthony J, Kitahara, Cari M, Linet, Martha, Prentice, Ross L, Easton, Douglas F, Milne, Roger L, Kraft, Peter, Chang-Claude, Jenny, and Lindström, Sara
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Genetics ,Cancer ,Aging ,Human Genome ,Breast Cancer ,Prevention ,Estrogen ,2.1 Biological and endogenous factors ,Aetiology ,Breast ,Breast Neoplasms ,Estrogen Replacement Therapy ,Female ,Hormone Replacement Therapy ,Humans ,Male ,Menopause ,Risk Factors - Abstract
Use of menopausal hormone therapy (MHT) is associated with increased risk for breast cancer. However, the relevant mechanisms and its interaction with genetic variants are not fully understood. We conducted a genome-wide interaction analysis between MHT use and genetic variants for breast cancer risk in 27,585 cases and 34,785 controls from 26 observational studies. All women were post-menopausal and of European ancestry. Multivariable logistic regression models were used to test for multiplicative interactions between genetic variants and current MHT use. We considered interaction p-values
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- 2022
43. Rare germline copy number variants (CNVs) and breast cancer risk
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Dennis, Joe, Tyrer, Jonathan P, Walker, Logan C, Michailidou, Kyriaki, Dorling, Leila, Bolla, Manjeet K, Wang, Qin, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Castelao, Jose E, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Clarke, Christine L, Collée, J Margriet, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Jager, Agnes, Jakubowska, Anna, John, Esther M, Johnson, Nichola, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Larson, Nicole L, Linet, Martha, Ogrodniczak, Alicja, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Muranen, Taru A, Murphy, Rachel A, Nevanlinna, Heli, Olson, Janet E, Olsson, Håkan, Park-Simon, Tjoung-Won, Perou, Charles M, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Shibli, Rana, Smeets, Ann, and Soucy, Penny
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Human Genome ,Breast Cancer ,Genetics ,Clinical Research ,Cancer ,Prevention ,2.1 Biological and endogenous factors ,Aetiology ,Breast Neoplasms ,Case-Control Studies ,DNA Copy Number Variations ,Female ,Genome ,Human ,Genome-Wide Association Study ,Germ Cells ,Humans ,Risk Factors ,NBCS Collaborators ,CTS Consortium ,ABCTB Investigators ,kConFab/AOCS Investigators - Abstract
Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E-18). Nine other genes were associated with a p-value
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- 2022
44. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
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Morra, Anna, Escala-Garcia, Maria, Beesley, Jonathan, Keeman, Renske, Canisius, Sander, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S, Caan, Bette, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Cheng, Ting-Yuan David, Clarke, Christine L, Colonna, Sarah V, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Dörk, Thilo, Dossus, Laure, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fritschi, Lin, Gago-Dominguez, Manuela, García-Sáenz, José A, Giles, Graham G, Grip, Mervi, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Hartikainen, Jaana M, Hartmann, Arndt, He, Wei, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Hunter, David J, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey Y, Kaaks, Rudolf, Keupers, Machteld, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Linet, Martha, Luben, Robert N, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martens, John WM, Martinez, Maria Elena, Mavroudis, Dimitrios, Michailidou, Kyriaki, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Nevanlinna, Heli, Newman, William G, and Nielsen, Sune F
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Clinical Research ,Cancer ,Breast Cancer ,Human Genome ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Breast Neoplasms ,Female ,Genome-Wide Association Study ,Germ-Line Mutation ,Humans ,Polymorphism ,Single Nucleotide ,Prognosis ,Survival Analysis ,Common germline genetic variants ,Breast cancer-specific survival ,Patient subgroups ,Tumor biology ,Systemic treatment ,NBCS Collaborators ,ABCTB Investigators ,kConFab Investigators ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
BackgroundGiven the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients.MethodsWe performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP
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- 2021
45. Mendelian randomisation study of smoking exposure in relation to breast cancer risk
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Park, Hanla A, Neumeyer, Sonja, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Baten, Adinda, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y, Burwinkel, Barbara, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fritschi, Lin, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Han, Sileny, Harkness, Elaine F, Hart, Steven N, He, Wei, Heemskerk-Gerritsen, Bernadette AM, Hopper, John L, Hunter, David J, Jager, Agnes, Jakubowska, Anna, John, Esther M, Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Kurian, Allison W, Lacey, James, Lambrechts, Diether, Le Marchand, Loic, Lo, Wing-Yee, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Meindl, Alfons, Menon, Usha, Milne, Roger L, Muranen, Taru A, and Nevanlinna, Heli
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Genetics ,Cancer ,Substance Misuse ,Clinical Research ,Human Genome ,Prevention ,Drug Abuse (NIDA only) ,Breast Cancer ,Tobacco ,Tobacco Smoke and Health ,Aetiology ,2.1 Biological and endogenous factors ,Good Health and Well Being ,Breast Neoplasms ,Case-Control Studies ,Cigarette Smoking ,Female ,Genetic Pleiotropy ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotyping Techniques ,Humans ,Mendelian Randomization Analysis ,Polymorphism ,Single Nucleotide ,NBCS Collaborators ,ABCTB Investigators ,kConFab Investigators ,Oncology and Carcinogenesis ,Public Health and Health Services ,Oncology & Carcinogenesis - Abstract
BackgroundDespite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk.MethodsWe applied Mendelian randomisation (MR) to evaluate a potential causal effect of cigarette smoking on breast cancer risk. Both individual-level data as well as summary statistics for 164 single-nucleotide polymorphisms (SNPs) reported in genome-wide association studies of lifetime smoking index (LSI) or cigarette per day (CPD) were used to obtain MR effect estimates. Data from 108,420 invasive breast cancer cases and 87,681 controls were used for the LSI analysis and for the CPD analysis conducted among ever-smokers from 26,147 cancer cases and 26,072 controls. Sensitivity analyses were conducted to address pleiotropy.ResultsGenetically predicted LSI was associated with increased breast cancer risk (OR 1.18 per SD, 95% CI: 1.07-1.30, P = 0.11 × 10-2), but there was no evidence of association for genetically predicted CPD (OR 1.02, 95% CI: 0.78-1.19, P = 0.85). The sensitivity analyses yielded similar results and showed no strong evidence of pleiotropic effect.ConclusionOur MR study provides supportive evidence for a potential causal association with breast cancer risk for lifetime smoking exposure but not cigarettes per day among smokers.
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- 2021
46. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
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Escala-Garcia, Maria, Canisius, Sander, Keeman, Renske, Beesley, Jonathan, Anton-Culver, Hoda, Arndt, Volker, Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Couch, Fergus J, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Easton, Douglas F, Ekici, Arif B, Eliassen, A Heather, Fasching, Peter A, Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Geisler, Jürgen, Giles, Graham G, Grip, Mervi, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hartikainen, Jaana M, Heemskerk-Gerritsen, Bernadette AM, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Hunter, David J, Jacot, William, Jakubowska, Anna, John, Esther M, Jung, Audrey Y, Kaaks, Rudolf, Khusnutdinova, Elza, Koppert, Linetta B, Kraft, Peter, Kristensen, Vessela N, Kurian, Allison W, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Luben, Robert N, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Muranen, Taru A, Nevanlinna, Heli, Olshan, Andrew F, Olsson, Håkan, Park-Simon, Tjoung-Won, Patel, Alpa V, Peterlongo, Paolo, Pharoah, Paul DP, Punie, Kevin, Radice, Paolo, Rennert, Gad, Rennert, Hedy S, Romero, Atocha, Roylance, Rebecca, Rüdiger, Thomas, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schoemaker, Minouk J, Scott, Christopher, Southey, Melissa C, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Teras, Lauren R, Thomas, Emilie, Tomlinson, Ian, Troester, Melissa A, Vachon, Celine M, Wang, Qin, Winqvist, Robert, and Wolk, Alicja
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kConFab/AOCS Investigators ,Cancer ,Genetics ,Breast Cancer ,Prevention ,2.1 Biological and endogenous factors ,4.1 Discovery and preclinical testing of markers and technologies - Abstract
Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10-8 and 4.42 × 10-8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.
- Published
- 2021
47. Multiparametric Magnetic Resonance Imaging in Prostate Cancer Screening at the Age of 45 Years: Results from the First Screening Round of the PROBASE Trial
- Author
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Boschheidgen, Matthias, Albers, Peter, Schlemmer, Heinz-Peter, Hellms, Susanne, Bonekamp, David, Sauter, Andreas, Hadaschik, Boris, Krilaviciute, Agne, Radtke, Jan Philipp, Seibold, Petra, Lakes, Jale, Arsov, Christian, Gschwend, Jürgen E., Herkommer, Kathleen, Makowski, Marcus, Kuczyk, Markus A., Wacker, Frank, Harke, Nina, Debus, Jürgen, Körber, Stefan A., Benner, Axel, Kristiansen, Glen, Giesel, Frederik L., Antoch, Gerald, Kaaks, Rudolf, Becker, Nikolaus, and Schimmöller, Lars
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- 2024
- Full Text
- View/download PDF
48. Risk-adjusted Screening for Prostate Cancer—Defining the Low-risk Group by Data from the PROBASE Trial
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Krilaviciute, Agne, Kaaks, Rudolf, Seibold, Petra, de Vrieze, Maxime, Lakes, Jale, Radtke, Jan Philipp, Kuczyk, Markus, Harke, Nina N., Debus, Jürgen, Fink, Christoph A., Herkommer, Kathleen, Gschwend, Jürgen E., Meissner, Valentin H., Benner, Axel, Kristiansen, Glen, Hadaschik, Boris, Arsov, Christian, Schimmöller, Lars, Antoch, Gerald, Giesel, Frederik L., Makowski, Marcus, Wacker, Frank, Schlemmer, Heinz-Peter, Becker, Nikolaus, and Albers, Peter
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- 2024
- Full Text
- View/download PDF
49. The association between body fatness and mortality among breast cancer survivors: results from a prospective cohort study
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Bonet, Catalina, Crous-Bou, Marta, Tsilidis, Konstantinos K., Gunter, Marc J., Kaaks, Rudolf, Schulze, Matthias B., Fortner, Renée T., Antoniussen, Christian S., Dahm, Christina C., Mellemkjær, Lene, Tjønneland, Anne, Amiano, Pilar, Ardanaz, Eva, Colorado-Yohar, Sandra M., Rodriguez-Barranco, Miguel, Tin Tin, Sandar, Agnoli, Claudia, Masala, Giovanna, Panico, Salvatore, Sacerdote, Carlotta, May, Anne M., Borch, Kristin Benjaminsen, Rylander, Charlotta, Skeie, Guri, Christakoudi, Sofia, Aune, Dagfinn, Weiderpass, Elisabete, Dossus, Laure, Riboli, Elio, and Agudo, Antonio
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- 2023
- Full Text
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50. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
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Baxter, Joseph S, Johnson, Nichola, Tomczyk, Katarzyna, Gillespie, Andrea, Maguire, Sarah, Brough, Rachel, Fachal, Laura, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Brucker, Sara Y, Cai, Qiuyin, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L, Collaborators, NBCS, Colonna, Sarah, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Chi, García-Closas, Montserrat, García-Sáenz, José A, Ghoussaini, Maya, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hatse, Sigrid, Hauke, Jan, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Hou, Ming-Feng, Investigators, kConFab, Investigators, ABCTB, Ito, Hidemi, Iwasaki, Motoki, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Joseph, Vijai, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Keeman, Renske, Khusnutdinova, Elza, Kim, Sung-Won, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Kwong, Ava, and Lacey, James V
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Human Genome ,Genetics ,Cancer ,Estrogen ,Prevention ,Breast Cancer ,2.1 Biological and endogenous factors ,Aetiology ,Breast Neoplasms ,CRISPR-Cas Systems ,Cell Line ,Chromosome Mapping ,Chromosomes ,Human ,Pair 2 ,Female ,Genetic Association Studies ,Genetic Variation ,Humans ,Insulin-Like Growth Factor Binding Protein 5 ,Molecular Sequence Annotation ,Promoter Regions ,Genetic ,Risk Factors ,Sequence Deletion ,NBCS Collaborators ,kConFab Investigators ,ABCTB Investigators ,breast cancer risk ,functional annotation ,risk locus ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific transcription from the IGFBP5 promoter at both signals (30- to 40-fold increased expression by the putative regulatory element at signal 2, 2- to 3-fold by the putative regulatory element at signal 3). We further identified one of the five credible causal variants at signal 2, a 1.4 kb deletion (esv3594306), as the likely causal variant; the deletion allele of this variant was associated with an average additional increase in IGFBP5 expression of 1.3-fold (MCF-7) and 2.2-fold (T-47D). We propose a model in which the deletion allele of esv3594306 juxtaposes two transcription factor binding regions (annotated by estrogen receptor alpha ChIP-seq peaks) to generate a single extended regulatory element. This regulatory element increases cell-type-specific expression of the tumor suppressor gene IGFBP5 and, thereby, reduces risk of estrogen receptor-positive breast cancer (odds ratio = 0.77, 95% CI 0.74-0.81, p = 3.1 × 10-31).
- Published
- 2021
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