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1,889 results on '"Severi, Gianluca"'

104. Association between cumulative airborne dioxin exposure and non-Hodgkin's lymphoma risk in a nested case-control study within the French E3N cohort

Author

Gaspard, Elizabeth, primary, Frenoy, Pauline, additional, Praud, Delphine, additional, Coudon, Thomas, additional, Grassot, Lény, additional, Assi, Aline Abou, additional, Fervers, Béatrice, additional, Gelot, Amandine, additional, Mancini, Francesca Romana, additional, Severi, Gianluca, additional, Besson, Caroline, additional, and Faure, Elodie, additional

Published
2023
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108. Asthma Medication Ratio Phenotypes in Elderly Women

Author

Chanoine, Sébastien, Pin, Isabelle, Sanchez, Margaux, Temam, Sofia, Pison, Christophe, Le Moual, Nicole, Severi, Gianluca, Boutron-Ruault, Marie-Christine, Fournier, Agnès, Bousquet, Jean, Bedouch, Pierrick, Varraso, Raphaëlle, and Siroux, Valérie

Published
2018
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109. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Author

Berndt, Sonja I, Skibola, Christine F, Joseph, Vijai, Camp, Nicola J, Nieters, Alexandra, Wang, Zhaoming, Cozen, Wendy, Monnereau, Alain, Wang, Sophia S, Kelly, Rachel S, Lan, Qing, Teras, Lauren R, Chatterjee, Nilanjan, Chung, Charles C, Yeager, Meredith, Brooks-Wilson, Angela R, Hartge, Patricia, Purdue, Mark P, Birmann, Brenda M, Armstrong, Bruce K, Cocco, Pierluigi, Zhang, Yawei, Severi, Gianluca, Zeleniuch-Jacquotte, Anne, Lawrence, Charles, Burdette, Laurie, Yuenger, Jeffrey, Hutchinson, Amy, Jacobs, Kevin B, Call, Timothy G, Shanafelt, Tait D, Novak, Anne J, Kay, Neil E, Liebow, Mark, Wang, Alice H, Smedby, Karin E, Adami, Hans-Olov, Melbye, Mads, Glimelius, Bengt, Chang, Ellen T, Glenn, Martha, Curtin, Karen, Cannon-Albright, Lisa A, Jones, Brandt, Diver, W Ryan, Link, Brian K, Weiner, George J, Conde, Lucia, Bracci, Paige M, Riby, Jacques, Holly, Elizabeth A, Smith, Martyn T, Jackson, Rebecca D, Tinker, Lesley F, Benavente, Yolanda, Becker, Nikolaus, Boffetta, Paolo, Brennan, Paul, Foretova, Lenka, Maynadie, Marc, McKay, James, Staines, Anthony, Rabe, Kari G, Achenbach, Sara J, Vachon, Celine M, Goldin, Lynn R, Strom, Sara S, Lanasa, Mark C, Spector, Logan G, Leis, Jose F, Cunningham, Julie M, Weinberg, J Brice, Morrison, Vicki A, Caporaso, Neil E, Norman, Aaron D, Linet, Martha S, De Roos, Anneclaire J, Morton, Lindsay M, Severson, Richard K, Riboli, Elio, Vineis, Paolo, Kaaks, Rudolph, Trichopoulos, Dimitrios, Masala, Giovanna, Weiderpass, Elisabete, Chirlaque, María-Dolores, Vermeulen, Roel CH, Travis, Ruth C, Giles, Graham G, Albanes, Demetrius, Virtamo, Jarmo, Weinstein, Stephanie, Clavel, Jacqueline, Zheng, Tongzhang, Holford, Theodore R, Offit, Kenneth, Zelenetz, Andrew, Klein, Robert J, Spinelli, John J, and Bertrand, Kimberly A

Subjects
Cancer, Case-Control Studies, Chromosomes, Human, Pair 2, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Leukemia, Lymphocytic, Chronic, B-Cell, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Recombination, Genetic, Risk, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P=1.22×10(-14)), 18q21.33 (BCL2, P=7.76×10(-11)), 11p15.5 (C11orf21, P=2.15×10(-10)), 4q25 (LEF1, P=4.24×10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P=2.50×10(-9)), 9p21.3 (CDKN2B-AS1, P=1.27×10(-8)), 18q21.32 (PMAIP1, P=2.51×10(-8)), 15q15.1 (BMF, P=2.71×10(-10)) and 2p22.2 (QPCT, P=1.68×10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P=2.08×10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P=5.40×10(-8)) and 5p15.33 (TERT, P=1.92×10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.

Published
2013

110. Evidence of Gene�Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

Author

Nickels, Stefan, Truong, Thérèse, Hein, Rebecca, Stevens, Kristen, Buck, Katharina, Behrens, Sabine, Eilber, Ursula, Schmidt, Martina, Häberle, Lothar, Vrieling, Alina, Gaudet, Mia, Figueroa, Jonine, Schoof, Nils, Spurdle, Amanda B, Rudolph, Anja, Fasching, Peter A, Hopper, John L, Makalic, Enes, Schmidt, Daniel F, Southey, Melissa C, Beckmann, Matthias W, Ekici, Arif B, Fletcher, Olivia, Gibson, Lorna, dos Santos Silva, Isabel, Peto, Julian, Humphreys, Manjeet K, Wang, Jean, Cordina-Duverger, Emilie, Menegaux, Florence, Nordestgaard, Børge G, Bojesen, Stig E, Lanng, Charlotte, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Clarke, Christina A, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Harth, Volker, GENICA Network, The, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, kConFab, The, Group, AOCS Management, Lambrechts, Diether, Smeets, Dominiek, Neven, Patrick, Paridaens, Robert, Flesch-Janys, Dieter, Obi, Nadia, Wang-Gohrke, Shan, Couch, Fergus J, Olson, Janet E, Vachon, Celine M, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, Offit, Kenneth, John, Esther M, Miron, Alexander, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Chanock, Stephen J, Lissowska, Jolanta, Liu, Jianjun, Cox, Angela, Cramp, Helen, Connley, Dan, Balasubramanian, Sabapathy, Dunning, Alison M, Shah, Mitul, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen, Cahoon, Elizabeth K, Rajaraman, Preetha, Sigurdson, Alice J, Doody, Michele M, Guénel, Pascal, Pharoah, Paul D. P, Schmidt, Marjanka K, Hall, Per, Easton, Doug F, Garcia-Closas, Montserrat, Milne, Roger L, Chang-Claude, Jenny, and Horwitz, Marshall S

Subjects
Genome-Wide Association, Mammographic Density, 14q24.1 Rad51l1, Hormone-Therapy, Pooled Analysis, Tumor Subtypes, Variants, Consortium, Fgfr2, Women
Published
2013

111. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

Author

Shen, Hui, Fridley, Brooke L, Song, Honglin, Lawrenson, Kate, Cunningham, Julie M, Ramus, Susan J, Cicek, Mine S, Tyrer, Jonathan, Stram, Douglas, Larson, Melissa C, Köbel, Martin, Ziogas, Argyrios, Zheng, Wei, Yang, Hannah P, Wu, Anna H, Wozniak, Eva L, Ling Woo, Yin, Winterhoff, Boris, Wik, Elisabeth, Whittemore, Alice S, Wentzensen, Nicolas, Palmieri Weber, Rachel, Vitonis, Allison F, Vincent, Daniel, Vierkant, Robert A, Vergote, Ignace, Van Den Berg, David, Van Altena, Anne M, Tworoger, Shelley S, Thompson, Pamela J, Tessier, Daniel C, Terry, Kathryn L, Teo, Soo-Hwang, Templeman, Claire, Stram, Daniel O, Southey, Melissa C, Sieh, Weiva, Siddiqui, Nadeem, Shvetsov, Yurii B, Shu, Xiao-Ou, Shridhar, Viji, Wang-Gohrke, Shan, Severi, Gianluca, Schwaab, Ira, Salvesen, Helga B, Rzepecka, Iwona K, Runnebaum, Ingo B, Anne Rossing, Mary, Rodriguez-Rodriguez, Lorna, Risch, Harvey A, Renner, Stefan P, Poole, Elizabeth M, Pike, Malcolm C, Phelan, Catherine M, Pelttari, Liisa M, Pejovic, Tanja, Paul, James, Orlow, Irene, Zawiah Omar, Siti, Olson, Sara H, Odunsi, Kunle, Nickels, Stefan, Nevanlinna, Heli, Ness, Roberta B, Narod, Steven A, Nakanishi, Toru, Moysich, Kirsten B, Monteiro, Alvaro NA, Moes-Sosnowska, Joanna, Modugno, Francesmary, Menon, Usha, McLaughlin, John R, McGuire, Valerie, Matsuo, Keitaro, Mat Adenan, Noor Azmi, Massuger, Leon FAG, Lurie, Galina, Lundvall, Lene, Lubiński, Jan, Lissowska, Jolanta, Levine, Douglas A, Leminen, Arto, Lee, Alice W, Le, Nhu D, Lambrechts, Sandrina, Lambrechts, Diether, Kupryjanczyk, Jolanta, Krakstad, Camilla, Konecny, Gottfried E, Krüger Kjaer, Susanne, Kiemeney, Lambertus A, Kelemen, Linda E, Keeney, Gary L, Karlan, Beth Y, Karevan, Rod, Kalli, Kimberly R, Kajiyama, Hiroaki, Ji, Bu-Tian, Jensen, Allan, and Jakubowska, Anna

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Ovarian Cancer, Cancer, Human Genome, Rare Diseases, Prevention, Aetiology, 2.1 Biological and endogenous factors, DNA Methylation, Epigenesis, Genetic, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Hepatocyte Nuclear Factor 1-beta, Humans, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, PRACTICAL Consortium, Australian Ovarian Cancer Study Group, Australian Cancer Study
Abstract

HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing in serous epithelial ovarian cancer, leading us to hypothesize that variation in this gene differentially associates with epithelial ovarian cancer risk according to histological subtype. Here we comprehensively map variation in HNF1B with respect to epithelial ovarian cancer risk and analyse DNA methylation and expression profiles across histological subtypes. Different single-nucleotide polymorphisms associate with invasive serous (rs7405776 odds ratio (OR)=1.13, P=3.1 × 10(-10)) and clear cell (rs11651755 OR=0.77, P=1.6 × 10(-8)) epithelial ovarian cancer. Risk alleles for the serous subtype associate with higher HNF1B-promoter methylation in these tumours. Unmethylated, expressed HNF1B, primarily present in clear cell tumours, coincides with a CpG island methylator phenotype affecting numerous other promoters throughout the genome. Different variants in HNF1B associate with risk of serous and clear cell epithelial ovarian cancer; DNA methylation and expression patterns are also notably distinct between these subtypes. These findings underscore distinct mechanisms driving different epithelial ovarian cancer histological subtypes.

Published
2013

112. Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics

Author

Feng, Yen-Chen Anne, Cho, Kelly, Lindstrom, Sara, Kraft, Peter, Cormack, Jean, Liang, Liming, Driver, Jane A., Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Gruber, Stephen B., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Peters, Ulrike, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Hunter, David J., Lindström, Sara, Kraft, Peter, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Severi, Gianluca, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Kraft, Peter, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Bickeböller, Heike, Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Landi, Maria Teresa, Heinrich, Joachim, Risch, Angela, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Amos, Christopher I., IGAP Consortium, Colorectal Transdisciplinary Study (CORECT), Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), and Transdisciplinary Research in Cancer of the Lung (TRICL)

Published
2017
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113. Haem iron intake and risk of lung cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort

Author

Ward, Heather A., Whitman, Julia, Muller, David C., Johansson, Mattias, Jakszyn, Paula, Weiderpass, Elisabete, Palli, Domenico, Fanidi, Anouar, Vermeulen, Roel, Tjønneland, Anne, Hansen, Louise, Dahm, Christina C., Overvad, Kim, Severi, Gianluca, Boutron-Ruault, Marie-Christine, Affret, Aurélie, Kaaks, Rudolf, Fortner, Renee, Boeing, Heiner, Trichopoulou, Antonia, La Vecchia, Carlo, Kotanidou, Anastasia, Berrino, Franco, Krogh, Vittorio, Tumino, Rosario, Ricceri, Fulvio, Panico, Salvatore, Bueno-de-Mesquita, H. Bas, Peeters, Petra H., Nøst, Therese Haugdahl, Sandanger, Torkjel M., Quirós, Jose Ramón, Agudo, Antonio, Rodríguez-Barranco, Miguel, Larrañaga, Nerea, Huerta, Jose Maria, Ardanaz, Eva, Drake, Isabel, Brunnström, Hans, Johansson, Mikael, Grankvist, Kjell, Travis, Ruth C., Freisling, Heinz, Stepien, Magdalena, Merritt, Melissa A., Riboli, Elio, and Cross, Amanda J.

Published
2019
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114. Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Author

Bien, Stephanie A., Su, Yu-Ru, Conti, David V., Harrison, Tabitha A., Qu, Conghui, Guo, Xingyi, Lu, Yingchang, Albanes, Demetrius, Auer, Paul L., Banbury, Barbara L., Berndt, Sonja I., Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D., Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Chan, Andrew T., Chang-Claude, Jenny, Chen, Sai, Connolly, Charles M., Easton, Douglas F., Feskens, Edith J. M., Gallinger, Steven, Giles, Graham G., Gunter, Marc J., Hampe, Jochen, Huyghe, Jeroen R., Hoffmeister, Michael, Hudson, Thomas J., Jacobs, Eric J., Jenkins, Mark A., Kampman, Ellen, Kang, Hyun Min, Kühn, Tilman, Küry, Sébastien, Lejbkowicz, Flavio, Le Marchand, Loic, Milne, Roger L., Li, Li, Li, Christopher I., Lindblom, Annika, Lindor, Noralane M., Martín, Vicente, McNeil, Caroline E., Melas, Marilena, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Pharaoh, Paul D. P., Potter, John D., Qu, Chenxu, Riboli, Elio, Rennert, Gad, Sala, Núria, Schafmayer, Clemens, Scacheri, Peter C., Schmit, Stephanie L., Severi, Gianluca, Slattery, Martha L., Smith, Joshua D., Trichopoulou, Antonia, Tumino, Rosario, Ulrich, Cornelia M., van Duijnhoven, Fränzel J. B., Van Guelpen, Bethany, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Abecasis, Goncalo R., Casey, Graham, Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, Zheng, Wei, and Peters, Ulrike

Published
2019
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115. Genome-wide association study of glioma and meta-analysis

Author

Rajaraman, Preetha, Melin, Beatrice S, Wang, Zhaoming, McKean-Cowdin, Roberta, Michaud, Dominique S, Wang, Sophia S, Bondy, Melissa, Houlston, Richard, Jenkins, Robert B, Wrensch, Margaret, Yeager, Meredith, Ahlbom, Anders, Albanes, Demetrius, Andersson, Ulrika, Freeman, Laura E Beane, Buring, Julie E, Butler, Mary Ann, Braganza, Melissa, Carreon, Tania, Feychting, Maria, Fleming, Sarah J, Gapstur, Susan M, Gaziano, J Michael, Giles, Graham G, Hallmans, Goran, Henriksson, Roger, Hoffman-Bolton, Judith, Inskip, Peter D, Johansen, Christoffer, Kitahara, Cari M, Lathrop, Mark, Liu, Chenwei, Le Marchand, Loic, Linet, Martha S, Lonn, Stefan, Peters, Ulrike, Purdue, Mark P, Rothman, Nathaniel, Ruder, Avima M, Sanson, Marc, Sesso, Howard D, Severi, Gianluca, Shu, Xiao-Ou, Simon, Matthias, Stampfer, Meir, Stevens, Victoria L, Visvanathan, Kala, White, Emily, Wolk, Alicja, Zeleniuch-Jacquotte, Anne, Zheng, Wei, Decker, Paul, Enciso-Mora, Victor, Fridley, Brooke, Gao, Yu-Tang, Kosel, Matthew, Lachance, Daniel H, Lau, Ching, Rice, Terri, Swerdlow, Anthony, Wiemels, Joseph L, Wiencke, John K, Shete, Sanjay, Xiang, Yong-Bing, Xiao, Yuanyuan, Hoover, Robert N, Fraumeni, Joseph F, Chatterjee, Nilanjan, Hartge, Patricia, and Chanock, Stephen J

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Prevention, Brain Cancer, Neurosciences, Cancer, Human Genome, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Aged, Brain Neoplasms, Case-Control Studies, Cohort Studies, Cyclin-Dependent Kinase Inhibitor p15, DNA Helicases, Female, Genome-Wide Association Study, Glioblastoma, Glioma, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Telomerase, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
Abstract

Gliomas account for approximately 80 % of all primary malignant brain tumors and, despite improvements in clinical care over the last 20 years, remain among the most lethal tumors, underscoring the need for gaining new insights that could translate into clinical advances. Recent genome-wide association studies (GWAS) have identified seven new susceptibility regions. We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 controls (from 14 cohort studies, 3 case-control studies, and 1 population-based case-only study) and found evidence of strong replication for three of the seven previously reported associations at 20q13.33 (RTEL), 5p15.33 (TERT), and 9p21.3 (CDKN2BAS), and consistent association signals for the remaining four at 7p11.2 (EGFR both loci), 8q24.21 (CCDC26) and 11q23.3 (PHLDB1). The direction and magnitude of the signal were consistent for samples from cohort and case-control studies, but the strength of the association was more pronounced for loci rs6010620 (20q,13.33; RTEL) and rs2736100 (5p15.33, TERT) in cohort studies despite the smaller number of cases in this group, likely due to relatively more higher grade tumors being captured in the cohort studies. We further examined the 85 most promising single nucleotide polymorphism (SNP) markers identified in our study in three replication sets (5,015 cases and 11,601 controls), but no new markers reached genome-wide significance. Our findings suggest that larger studies focusing on novel approaches as well as specific tumor subtypes or subgroups will be required to identify additional common susceptibility loci for glioma risk.

Published
2012

116. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer.

Author

Weischer, Maren, Nordestgaard, Børge G, Pharoah, Paul, Bolla, Manjeet K, Nevanlinna, Heli, Van't Veer, Laura J, Garcia-Closas, Montserrat, Hopper, John L, Hall, Per, Andrulis, Irene L, Devilee, Peter, Fasching, Peter A, Anton-Culver, Hoda, Lambrechts, Diether, Hooning, Maartje, Cox, Angela, Giles, Graham G, Burwinkel, Barbara, Lindblom, Annika, Couch, Fergus J, Mannermaa, Arto, Grenaker Alnæs, Grethe, John, Esther M, Dörk, Thilo, Flyger, Henrik, Dunning, Alison M, Wang, Qin, Muranen, Taru A, van Hien, Richard, Figueroa, Jonine, Southey, Melissa C, Czene, Kamila, Knight, Julia A, Tollenaar, Rob AEM, Beckmann, Matthias W, Ziogas, Argyrios, Christiaens, Marie-Rose, Collée, Johanna Margriet, Reed, Malcolm WR, Severi, Gianluca, Marme, Frederik, Margolin, Sara, Olson, Janet E, Kosma, Veli-Matti, Kristensen, Vessela N, Miron, Alexander, Bogdanova, Natalia, Shah, Mitul, Blomqvist, Carl, Broeks, Annegien, Sherman, Mark, Phillips, Kelly-Anne, Li, Jingmei, Liu, Jianjun, Glendon, Gord, Seynaeve, Caroline, Ekici, Arif B, Leunen, Karin, Kriege, Mieke, Cross, Simon S, Baglietto, Laura, Sohn, Christof, Wang, Xianshu, Kataja, Vesa, Børresen-Dale, Anne-Lise, Meyer, Andreas, Easton, Douglas F, Schmidt, Marjanka K, and Bojesen, Stig E

Subjects
Humans, Breast Neoplasms, Neoplasms, Second Primary, Genetic Predisposition to Disease, Prognosis, Case-Control Studies, Prospective Studies, Genotype, Heterozygote, Germ-Line Mutation, Middle Aged, Female, Checkpoint Kinase 2, Protein Serine-Threonine Kinases, Breast Cancer, Clinical Research, Cancer, Prevention, Genetics, Estrogen, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeWe tested the hypotheses that CHEK2*1100delC heterozygosity is associated with increased risk of early death, breast cancer-specific death, and risk of a second breast cancer in women with a first breast cancer.Patients and methodsFrom 22 studies participating in the Breast Cancer Association Consortium, 25,571 white women with invasive breast cancer were genotyped for CHEK2*1100delC and observed for up to 20 years (median, 6.6 years). We examined risk of early death and breast cancer-specific death by estrogen receptor status and risk of a second breast cancer after a first breast cancer in prospective studies.ResultsCHEK2*1100delC heterozygosity was found in 459 patients (1.8%). In women with estrogen receptor-positive breast cancer, multifactorially adjusted hazard ratios for heterozygotes versus noncarriers were 1.43 (95% CI, 1.12 to 1.82; log-rank P = .004) for early death and 1.63 (95% CI, 1.24 to 2.15; log-rank P < .001) for breast cancer-specific death. In all women, hazard ratio for a second breast cancer was 2.77 (95% CI, 2.00 to 3.83; log-rank P < .001) increasing to 3.52 (95% CI, 2.35 to 5.27; log-rank P < .001) in women with estrogen receptor-positive first breast cancer only.ConclusionAmong women with estrogen receptor-positive breast cancer, CHEK2*1100delC heterozygosity was associated with a 1.4-fold risk of early death, a 1.6-fold risk of breast cancer-specific death, and a 3.5-fold risk of a second breast cancer. This is one of the few examples of a genetic factor that influences long-term prognosis being documented in an extensive series of women with breast cancer.

Published
2012

117. Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC).

Author

Hein, Rebecca, Maranian, Melanie, Hopper, John, Kapuscinski, Miroslaw, Southey, Melissa, Park, Daniel, Schmidt, Marjanka, Broeks, Annegien, Hogervorst, Frans, Bueno-de-Mesquita, H, Muir, Kenneth, Lophatananon, Artitaya, Rattanamongkongul, Suthee, Puttawibul, Puttisak, Fasching, Peter, Hein, Alexander, Ekici, Arif, Beckmann, Matthias, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Marmee, Frederick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Cordina-Duverger, Emilie, Menegaux, Florence, Truong, Thérèse, Bojesen, Stig, Nordestgaard, Børge, Flyger, Henrik, Milne, Roger, Perez, Jose, Zamora, M, Benítez, Javier, Bernstein, Leslie, Clarke, Christina, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Rahman, Nazneen, Seal, Sheila, Turnbull, Clare, Renwick, Anthony, Meindl, Alfons, Schott, Sarah, Bartram, Claus, Schmutzler, Rita, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, Karstens, Johann, Hillemanns, Peter, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia, Zalutsky, Iosif, Antonenkova, Natalia, Bermisheva, Marina, Prokovieva, Darya, Farahtdinova, Albina, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana, Chen, Xiaoqing, Beesley, Jonathan, Lambrechts, Diether, Zhao, Hui, Neven, Patrick, Wildiers, Hans, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Couch, Fergus, Olson, Janet, Wang, Xianshu, Fredericksen, Zachary, Giles, Graham, Baglietto, Laura, McLean, Catriona, and Severi, Gianluca

Subjects
Asia, Breast Neoplasms, Chromosomes, Human, Pair 6, Europe, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Receptors, Estrogen, Risk Factors
Abstract

The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effects were independent. Both SNPs are significantly associated with breast cancer risk in both ethnic groups. Per-allele ORs are higher in Asian than in European studies [rs2046210: OR (A/G) = 1.36 (95% CI 1.26-1.48), p = 7.6 × 10(-14) in Asians and 1.09 (95% CI 1.07-1.11), p = 6.8 × 10(-18) in Europeans. rs12662670: OR (G/T) = 1.29 (95% CI 1.19-1.41), p = 1.2 × 10(-9) in Asians and 1.12 (95% CI 1.08-1.17), p = 3.8 × 10(-9) in Europeans]. SNP rs2046210 is associated with a significantly greater risk of ER- than ER+ tumours in Europeans [OR (ER-) = 1.20 (95% CI 1.15-1.25), p = 1.8 × 10(-17) versus OR (ER+) = 1.07 (95% CI 1.04-1.1), p = 1.3 × 10(-7), p(heterogeneity) = 5.1 × 10(-6)]. In these Asian studies, by contrast, there is no clear evidence of a differential association by tumour receptor status. Each SNP is associated with risk after adjustment for the other SNP. These results suggest the presence of two variants at 6q25.1 each independently associated with breast cancer risk in Asians and in Europeans. Of these two, the one tagged by rs2046210 is associated with a greater risk of ER- tumours.

Published
2012

118. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Author

Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, GENICA Network, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert AEM, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, kConFab, AOCS Study Group, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, SWE-BRCA, Loman, Niklas, Karlsson, Per, and Stenmark Askmalm, Marie

Subjects
GENICA Network, kConFab, AOCS Study Group, SWE-BRCA, HEBON, EMBRACE, BCAC/CIMBA, Chromosomes, Human, Pair 6, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Receptors, Estrogen, Confidence Intervals, Proportional Hazards Models, Odds Ratio, Risk Factors, Heterozygote, Polymorphism, Single Nucleotide, Alleles, Middle Aged, Female, Genetic Association Studies, Chromosomes, Human, Pair 6, Polymorphism, Single Nucleotide, Receptors, Estrogen, General Science & Technology
Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

Published
2012

121. 7q21-rs6964587 and breast cancer risk: an extended case–control study by the Breast Cancer Association Consortium

Author

Milne, Roger L, Lorenzo-Bermejo, Justo, Burwinkel, Barbara, Malats, Núria, Arias, Jose Ignacio, Zamora, M Pilar, Benítez, Javier, Humphreys, Manjeet K, García-Closas, Montserrat, Chanock, Stephen J, Lissowska, Jolanta, Sherman, Mark E, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Anton-Culver, Hoda, Ziogas, Argyrios, Devilee, Peter, van Asperen, Christie J, Tollenaar, Rob AEM, Seynaeve, Caroline, Hall, Per, Czene, Kamila, Liu, Jianjun, Irwanto, Astrid K, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, Nordestgaard, Børge G, Bojesen, Stig E, Flyger, Henrik, Margolin, Sara, Lindblom, Annika, Fasching, Peter A, Schulz-Wendtland, Ruediger, Ekici, Arif B, Beckmann, Matthias W, Wang-Gohrke, Shan, Shen, Chen-Yang, Yu, Jyh-Cherng, Hsu, Huan-Ming, Wu, Pei-Ei, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, English, Dallas R, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Beesley, Jonathan, Chen, Xiaoqing, Investigators, kConFab, Group, AOCS, Fletcher, Olivia, Gibson, Lorna, dos Santos Silva, Isabel, Peto, Julian, Frank, Bernd, Heil, Joerg, Meindl, Alfons, Chang-Claude, Jenny, Hein, Rebecca, Vrieling, Alina, Flesch-Janys, Dieter, Southey, Melissa C, Smith, Letitia, Apicella, Carmel, Hopper, John L, Dunning, Alison M, Pooley, Karen A, Pharoah, Paul DP, Hamann, Ute, Pesch, Beate, Ko, Yon-Dschun, Network, The GENICA, Easton, Douglas F, and Chenevix-Trench, Georgia

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Breast Cancer, Clinical Research, Cancer, Aetiology, 2.1 Biological and endogenous factors, A Kinase Anchor Proteins, Alleles, Asian People, Breast Neoplasms, Case-Control Studies, Chromosomes, Human, Pair 7, Cytoskeletal Proteins, Female, Genes, Recessive, Genetic Predisposition to Disease, Humans, Logistic Models, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors, White People, AOCS Group, GENICA Network, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundUsing the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies.MethodsThe authors genotyped 14,843 invasive case patients and 19,852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression.ResultsFor white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33,376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p = 0.001). The OR was greater at younger ages (p trend = 0.01).ConclusionThis may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.

Published
2011

122. Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.

Author

Yang, Xiaohong R, Chang-Claude, Jenny, Goode, Ellen L, Couch, Fergus J, Nevanlinna, Heli, Milne, Roger L, Gaudet, Mia, Schmidt, Marjanka K, Broeks, Annegien, Cox, Angela, Fasching, Peter A, Hein, Rebecca, Spurdle, Amanda B, Blows, Fiona, Driver, Kristy, Flesch-Janys, Dieter, Heinz, Judith, Sinn, Peter, Vrieling, Alina, Heikkinen, Tuomas, Aittomäki, Kristiina, Heikkilä, Päivi, Blomqvist, Carl, Lissowska, Jolanta, Peplonska, Beata, Chanock, Stephen, Figueroa, Jonine, Brinton, Louise, Hall, Per, Czene, Kamila, Humphreys, Keith, Darabi, Hatef, Liu, Jianjun, Van 't Veer, Laura J, van Leeuwen, Flora E, Andrulis, Irene L, Glendon, Gord, Knight, Julia A, Mulligan, Anna Marie, O'Malley, Frances P, Weerasooriya, Nayana, John, Esther M, Beckmann, Matthias W, Hartmann, Arndt, Weihbrecht, Sebastian B, Wachter, David L, Jud, Sebastian M, Loehberg, Christian R, Baglietto, Laura, English, Dallas R, Giles, Graham G, McLean, Catriona A, Severi, Gianluca, Lambrechts, Diether, Vandorpe, Thijs, Weltens, Caroline, Paridaens, Robert, Smeets, Ann, Neven, Patrick, Wildiers, Hans, Wang, Xianshu, Olson, Janet E, Cafourek, Victoria, Fredericksen, Zachary, Kosel, Matthew, Vachon, Celine, Cramp, Helen E, Connley, Daniel, Cross, Simon S, Balasubramanian, Sabapathy P, Reed, Malcolm WR, Dörk, Thilo, Bremer, Michael, Meyer, Andreas, Karstens, Johann H, Ay, Aysun, Park-Simon, Tjoung-Won, Hillemanns, Peter, Arias Pérez, Jose Ignacio, Menéndez Rodríguez, Primitiva, Zamora, Pilar, Benítez, Javier, Ko, Yon-Dschun, Fischer, Hans-Peter, Hamann, Ute, Pesch, Beate, Brüning, Thomas, Justenhoven, Christina, Brauch, Hiltrud, Eccles, Diana M, Tapper, William J, Gerty, Sue M, Sawyer, Elinor J, Tomlinson, Ian P, Jones, Angela, Kerin, Michael, Miller, Nicola, McInerney, Niall, Anton-Culver, Hoda, and Ziogas, Argyrios

Subjects
Humans, Breast Neoplasms, Obesity, Receptor, erbB-2, Receptors, Estrogen, Receptors, Progesterone, Body Mass Index, Logistic Models, Odds Ratio, Risk Factors, Case-Control Studies, Age Factors, Parity, Parturition, Menarche, Female, Keratin-5, ErbB Receptors, Biomarkers, Tumor, Receptor, ErbB-2, Prevention, Cancer, Aging, Breast Cancer, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundPrevious studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors.MethodsWe pooled tumor marker and epidemiological risk factor data from 35,568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium. Logistic regression models were used in case-case analyses to estimate associations between epidemiological risk factors and tumor subtypes, and case-control analyses to estimate associations between epidemiological risk factors and the risk of developing specific tumor subtypes in 12 population-based studies. All statistical tests were two-sided.ResultsIn case-case analyses, of the epidemiological risk factors examined, early age at menarche (≤12 years) was less frequent in case patients with PR(-) than PR(+) tumors (P = .001). Nulliparity (P = 3 × 10(-6)) and increasing age at first birth (P = 2 × 10(-9)) were less frequent in ER(-) than in ER(+) tumors. Obesity (body mass index [BMI] ≥ 30 kg/m(2)) in younger women (≤50 years) was more frequent in ER(-)/PR(-) than in ER(+)/PR(+) tumors (P = 1 × 10(-7)), whereas obesity in older women (>50 years) was less frequent in PR(-) than in PR(+) tumors (P = 6 × 10(-4)). The triple-negative (ER(-)/PR(-)/HER2(-)) or core basal phenotype (CBP; triple-negative and cytokeratins [CK]5/6(+) and/or epidermal growth factor receptor [EGFR](+)) accounted for much of the heterogeneity in parity-related variables and BMI in younger women. Case-control analyses showed that nulliparity, increasing age at first birth, and obesity in younger women showed the expected associations with the risk of ER(+) or PR(+) tumors but not triple-negative (nulliparity vs parity, odds ratio [OR] = 0.94, 95% confidence interval [CI] = 0.75 to 1.19, P = .61; 5-year increase in age at first full-term birth, OR = 0.95, 95% CI = 0.86 to 1.05, P = .34; obesity in younger women, OR = 1.36, 95% CI = 0.95 to 1.94, P = .09) or CBP tumors.ConclusionsThis study shows that reproductive factors and BMI are most clearly associated with hormone receptor-positive tumors and suggest that triple-negative or CBP tumors may have distinct etiology.

Published
2011

123. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the Breast Cancer Association Consortium: a combined case-control study

Author

Milne, Roger L, Gaudet, Mia M, Spurdle, Amanda B, Fasching, Peter A, Couch, Fergus J, Benítez, Javier, Arias Pérez, José Ignacio, Zamora, M Pilar, Malats, Núria, dos Santos Silva, Isabel, Gibson, Lorna J, Fletcher, Olivia, Johnson, Nichola, Anton-Culver, Hoda, Ziogas, Argyrios, Figueroa, Jonine, Brinton, Louise, Sherman, Mark E, Lissowska, Jolanta, Hopper, John L, Dite, Gillian S, Apicella, Carmel, Southey, Melissa C, Sigurdson, Alice J, Linet, Martha S, Schonfeld, Sara J, Freedman, D Michal, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Auvinen, Päivi, Andrulis, Irene L, Glendon, Gord, Knight, Julia A, Weerasooriya, Nayana, Cox, Angela, Reed, Malcolm WR, Cross, Simon S, Dunning, Alison M, Ahmed, Shahana, Shah, Mitul, Brauch, Hiltrud, Ko, Yon-Dschun, Brüning, Thomas, hiltrud.brauch@ikp-stuttgart.de, Lambrechts, Diether, Reumers, Joke, Smeets, Ann, Wang-Gohrke, Shan, Hall, Per, Czene, Kamila, Liu, Jianjun, Irwanto, Astrid K, Chenevix-Trench, Georgia, Holland, Helene, Georgia.Trench@qimr.edu.au, Giles, Graham G, Baglietto, Laura, Severi, Gianluca, Bojensen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, John, Esther M, West, Dee W, Whittemore, Alice S, Vachon, Celine, Olson, Janet E, Fredericksen, Zachary, Kosel, Matthew, Hein, Rebecca, Vrieling, Alina, Flesch-Janys, Dieter, Heinz, Judith, Beckmann, Matthias W, Heusinger, Katharina, Ekici, Arif B, Haeberle, Lothar, Humphreys, Manjeet K, Morrison, Jonathan, Easton, Doug F, Pharoah, Paul D, García-Closas, Montserrat, Goode, Ellen L, and Chang-Claude, Jenny

Abstract

Abstract Introduction Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in the Breast Cancer Association Consortium. Methods We evaluated two-way interactions between each of age at menarche, ever having had a live birth, number of live births, age at first birth and body mass index (BMI) and each of 12 single nucleotide polymorphisms (SNPs) (10q26-rs2981582 (FGFR2), 8q24-rs13281615, 11p15-rs3817198 (LSP1), 5q11-rs889312 (MAP3K1), 16q12-rs3803662 (TOX3), 2q35-rs13387042, 5p12-rs10941679 (MRPS30), 17q23-rs6504950 (COX11), 3p24-rs4973768 (SLC4A7), CASP8-rs17468277, TGFB1-rs1982073 and ESR1-rs3020314). Interactions were tested for by fitting logistic regression models including per-allele and linear trend main effects for SNPs and risk factors, respectively, and single-parameter interaction terms for linear departure from independent multiplicative effects. Results These analyses were applied to data for up to 26,349 invasive breast cancer cases and up to 32,208 controls from 21 case-control studies. No statistical evidence of interaction was observed beyond that expected by chance. Analyses were repeated using data from 11 population-based studies, and results were very similar. Conclusions The relative risks for breast cancer associated with the common susceptibility variants identified to date do not appear to vary across women with different reproductive histories or body mass index (BMI). The assumption of multiplicative combined effects for these established genetic and other risk factors in risk prediction models appears justified.

Published
2010

124. Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor–Negative Breast Cancer Survival

Author

Azzato, Elizabeth M, Tyrer, Jonathan, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Schulz-Wendtland, Rüdiger, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Milne, Roger L, Arias, José Ignacio, Menéndez, Primitiva, Benítez, Javier, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Beesley, Jonathan, Chen, Xiaoqing, Chenevix-Trench, Georgia, Couch, Fergus J, Olson, Janet E, Fredericksen, Zachary S, Wang, Xianshu, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, Southey, Melissa C, Devilee, Peter, Tollenaar, Rob AEM, Seynaeve, Caroline, García-Closas, Montserrat, Lissowska, Jolanta, Sherman, Mark E, Bolton, Kelly L, Hall, Per, Czene, Kamila, Cox, Angela, Brock, Ian W, Elliott, Graeme C, Reed, Malcolm WR, Greenberg, David, Anton-Culver, Hoda, Ziogas, Argyrios, Humphreys, Manjeet, Easton, Douglas F, Caporaso, Neil E, and Pharoah, Paul DP

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prevention, Genetics, Breast Cancer, Human Genome, Cancer, Adult, Aged, Alleles, Biomarkers, Tumor, Breast Neoplasms, Chromosomes, Human, Pair 15, Female, Genotype, Germ-Line Mutation, Humans, Membrane Transport Proteins, Middle Aged, Polymorphism, Single Nucleotide, Proportional Hazards Models, Receptors, Estrogen, Research Design, Risk Assessment, Risk Factors, Survival Analysis, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundTraditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival.MethodsWe evaluated possible associations between overall survival after a breast cancer diagnosis and 10 621 germline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26 978 person-years at risk) that were genotyped previously in the SEARCH study with high-density oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5' nuclease assay or mass spectrometry and overall survival information for up to 14 096 patients with invasive breast cancer (including 2303 deaths and 70 019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided.ResultsIn the hypothesis-generating dataset, SNP rs4778137 (C>G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 x 10(-5)). This association was also observed in the validation dataset (HR of death per rare allele carried = 0.88, 95% CI = 0.78 to 0.99, P = .03) and in the combined dataset (HR of death per rare allele carried = 0.82, 95% CI = 0.73 to 0.92, P = 5 x 10(-4)).ConclusionThe rare G allele of the OCA2 polymorphism, rs4778137, may be associated with improved overall survival among patients with estrogen receptor-negative breast cancer.

Published
2010

126. Genetic variation in the ADIPOQ gene, adiponectin concentrations and risk of colorectal cancer: a Mendelian Randomization analysis using data from three large cohort studies

Author

Nimptsch, Katharina, Song, Mingyang, Aleksandrova, Krasimira, Katsoulis, Michail, Freisling, Heinz, Jenab, Mazda, Gunter, Marc J., Tsilidis, Konstantinos K., Weiderpass, Elisabete, Bueno-De-Mesquita, H. Bas, Chong, Dawn Q., Jensen, Majken K., Wu, Chunsen, Overvad, Kim, Kühn, Tilman, Barrdahl, Myrto, Melander, Olle, Jirström, Karin, Peeters, Petra H., Sieri, Sabina, Panico, Salvatore, Cross, Amanda J., Riboli, Elio, Van Guelpen, Bethany, Myte, Robin, Huerta, José María, Rodriguez-Barranco, Miguel, Quirós, José Ramón, Dorronsoro, Miren, Tjønneland, Anne, Olsen, Anja, Travis, Ruth, Boutron-Ruault, Marie-Christine, Carbonnel, Franck, Severi, Gianluca, Bonet, Catalina, Palli, Domenico, Janke, Jürgen, Lee, Young-Ae, Boeing, Heiner, Giovannucci, Edward L., Ogino, Shuji, Fuchs, Charles S., Rimm, Eric, Wu, Kana, Chan, Andrew T., and Pischon, Tobias

Published
2017

127. Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042

Author

Milne, Roger L, Benítez, Javier, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Arias, José Ignacio, Zamora, M Pilar, Burwinkel, Barbara, Bartram, Claus R, Meindl, Alfons, Schmutzler, Rita K, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Southey, Melissa C, Smith, Letitia, Spurdle, Amanda B, Hopper, John L, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Dörk, Thilo, Devilee, Peter, van Asperen, Christie J, Tollenaar, Rob AEM, Seynaeve, Caroline, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Yuqing, Ahmed, Shahana, Dunning, Alison M, Maranian, Melanie, Pharoah, Paul DP, Chenevix-Trench, Georgia, Beesley, Jonathan, Investigators, kConFab, Group, AOCS, Bogdanova, Natalia V, Antonenkova, Natalia N, Zalutsky, Iosif V, Anton-Culver, Hoda, Ziogas, Argyrios, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Haas, Susanne, Fasching, Peter A, Strick, Reiner, Ekici, Arif B, Beckmann, Matthias W, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, English, Dallas R, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Turnbull, Clare, Hines, Sarah, Renwick, Anthony, Rahman, Nazneen, Nordestgaard, Børge G, Bojesen, Stig E, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, García-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise A, Chang-Claude, Jenny, Wang-Gohrke, Shan, Shen, Chen-Yang, Wang, Hui-Chun, Yu, Jyh-Cherng, Chen, Sou-Tong, Bermisheva, Marina, Nikolaeva, Tatjana, Khusnutdinova, Elza, Humphreys, Manjeet K, Morrison, Jonathan, Platte, Radka, Easton, Douglas F, and Consortium, on behalf of the Breast Cancer Association

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Breast Cancer, Clinical Research, Cancer, Human Genome, Estrogen, Adult, Aged, Asian People, Biomarkers, Tumor, Breast Neoplasms, Carcinoma, Ductal, Breast, Carcinoma, Intraductal, Noninfiltrating, Case-Control Studies, Confidence Intervals, Confounding Factors, Epidemiologic, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Linkage Disequilibrium, Middle Aged, Neoplasms, Hormone-Dependent, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, White People, kConFab Investigators, AOCS Group, Breast Cancer Association Consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundA recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium.Methods2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided.ResultsWe found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P(trend) = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P > or = .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002).ConclusionThe rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

Published
2009

128. Lung cancer risk discrimination of prediagnostic proteomics measurements compared with existing prediction tools

Author

Feng, Xiaoshuang, primary, Wu, Wendy Yi-Ying, additional, Onwuka, Justina Ucheojor, additional, Haider, Zahra, additional, Alcala, Karine, additional, Smith-Byrne, Karl, additional, Zahed, Hana, additional, Guida, Florence, additional, Wang, Renwei, additional, Bassett, Julie K, additional, Stevens, Victoria, additional, Wang, Ying, additional, Weinstein, Stephanie, additional, Freedman, Neal D, additional, Chen, Chu, additional, Tinker, Lesley, additional, Nøst, Therese Haugdahl, additional, Koh, Woon-Puay, additional, Muller, David, additional, Colorado-Yohar, Sandra M, additional, Tumino, Rosario, additional, Hung, Rayjean J, additional, Amos, Christopher I, additional, Lin, Xihong, additional, Zhang, Xuehong, additional, Arslan, Alan A, additional, Sánchez, Maria-Jose, additional, Sørgjerd, Elin Pettersen, additional, Severi, Gianluca, additional, Hveem, Kristian, additional, Brennan, Paul, additional, Langhammer, Arnulf, additional, Milne, Roger L, additional, Yuan, Jian-Min, additional, Melin, Beatrice, additional, Johansson, Mikael, additional, Robbins, Hilary A, additional, and Johansson, Mattias, additional

Published
2023
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130. Plasma levels of OPN (ng/ml) in HCC Cases and matched Controls. from Circulating Osteopontin and Prediction of Hepatocellular Carcinoma Development in a Large European Population

Author

Duarte-Salles, Talita, primary, Misra, Sandeep, primary, Stepien, Magdalena, primary, Plymoth, Amelie, primary, Muller, David, primary, Overvad, Kim, primary, Olsen, Anja, primary, Tjønneland, Anne, primary, Baglietto, Laura, primary, Severi, Gianluca, primary, Boutron-Ruault, Marie-Christine, primary, Turzanski-Fortner, Renee, primary, Kaaks, Rudolf, primary, Boeing, Heiner, primary, Aleksandrova, Krasimira, primary, Trichopoulou, Antonia, primary, Lagiou, Pagona, primary, Bamia, Christina, primary, Pala, Valeria, primary, Palli, Domenico, primary, Mattiello, Amalia, primary, Tumino, Rosario, primary, Naccarati, Alessio, primary, Bueno-de-Mesquita, H.B(as)., primary, Peeters, Petra H., primary, Weiderpass, Elisabete, primary, Quirós, J. Ramón, primary, Agudo, Antonio, primary, Sánchez-Cantalejo, Emilio, primary, Ardanaz, Eva, primary, Gavrila, Diana, primary, Dorronsoro, Miren, primary, Werner, Mårten, primary, Hemmingsson, Oskar, primary, Ohlsson, Bodil, primary, Sjöberg, Klas, primary, Wareham, Nicholas J., primary, Khaw, Kay-Tee, primary, Bradbury, Kathryn E., primary, Gunter, Marc J., primary, Cross, Amanda J., primary, Riboli, Elio, primary, Jenab, Mazda, primary, Hainaut, Pierre, primary, and Beretta, Laura, primary

Published
2023
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131. Data from Circulating Osteopontin and Prediction of Hepatocellular Carcinoma Development in a Large European Population

Author

Duarte-Salles, Talita, primary, Misra, Sandeep, primary, Stepien, Magdalena, primary, Plymoth, Amelie, primary, Muller, David, primary, Overvad, Kim, primary, Olsen, Anja, primary, Tjønneland, Anne, primary, Baglietto, Laura, primary, Severi, Gianluca, primary, Boutron-Ruault, Marie-Christine, primary, Turzanski-Fortner, Renee, primary, Kaaks, Rudolf, primary, Boeing, Heiner, primary, Aleksandrova, Krasimira, primary, Trichopoulou, Antonia, primary, Lagiou, Pagona, primary, Bamia, Christina, primary, Pala, Valeria, primary, Palli, Domenico, primary, Mattiello, Amalia, primary, Tumino, Rosario, primary, Naccarati, Alessio, primary, Bueno-de-Mesquita, H.B(as)., primary, Peeters, Petra H., primary, Weiderpass, Elisabete, primary, Quirós, J. Ramón, primary, Agudo, Antonio, primary, Sánchez-Cantalejo, Emilio, primary, Ardanaz, Eva, primary, Gavrila, Diana, primary, Dorronsoro, Miren, primary, Werner, Mårten, primary, Hemmingsson, Oskar, primary, Ohlsson, Bodil, primary, Sjöberg, Klas, primary, Wareham, Nicholas J., primary, Khaw, Kay-Tee, primary, Bradbury, Kathryn E., primary, Gunter, Marc J., primary, Cross, Amanda J., primary, Riboli, Elio, primary, Jenab, Mazda, primary, Hainaut, Pierre, primary, and Beretta, Laura, primary

Published
2023
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132. Supplementary Figures Legends from Circulating Osteopontin and Prediction of Hepatocellular Carcinoma Development in a Large European Population

Author

Duarte-Salles, Talita, primary, Misra, Sandeep, primary, Stepien, Magdalena, primary, Plymoth, Amelie, primary, Muller, David, primary, Overvad, Kim, primary, Olsen, Anja, primary, Tjønneland, Anne, primary, Baglietto, Laura, primary, Severi, Gianluca, primary, Boutron-Ruault, Marie-Christine, primary, Turzanski-Fortner, Renee, primary, Kaaks, Rudolf, primary, Boeing, Heiner, primary, Aleksandrova, Krasimira, primary, Trichopoulou, Antonia, primary, Lagiou, Pagona, primary, Bamia, Christina, primary, Pala, Valeria, primary, Palli, Domenico, primary, Mattiello, Amalia, primary, Tumino, Rosario, primary, Naccarati, Alessio, primary, Bueno-de-Mesquita, H.B(as)., primary, Peeters, Petra H., primary, Weiderpass, Elisabete, primary, Quirós, J. Ramón, primary, Agudo, Antonio, primary, Sánchez-Cantalejo, Emilio, primary, Ardanaz, Eva, primary, Gavrila, Diana, primary, Dorronsoro, Miren, primary, Werner, Mårten, primary, Hemmingsson, Oskar, primary, Ohlsson, Bodil, primary, Sjöberg, Klas, primary, Wareham, Nicholas J., primary, Khaw, Kay-Tee, primary, Bradbury, Kathryn E., primary, Gunter, Marc J., primary, Cross, Amanda J., primary, Riboli, Elio, primary, Jenab, Mazda, primary, Hainaut, Pierre, primary, and Beretta, Laura, primary

Published
2023
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133. Cubic spline for the association between OPN levels and HCC from Circulating Osteopontin and Prediction of Hepatocellular Carcinoma Development in a Large European Population

Author

Duarte-Salles, Talita, primary, Misra, Sandeep, primary, Stepien, Magdalena, primary, Plymoth, Amelie, primary, Muller, David, primary, Overvad, Kim, primary, Olsen, Anja, primary, Tjønneland, Anne, primary, Baglietto, Laura, primary, Severi, Gianluca, primary, Boutron-Ruault, Marie-Christine, primary, Turzanski-Fortner, Renee, primary, Kaaks, Rudolf, primary, Boeing, Heiner, primary, Aleksandrova, Krasimira, primary, Trichopoulou, Antonia, primary, Lagiou, Pagona, primary, Bamia, Christina, primary, Pala, Valeria, primary, Palli, Domenico, primary, Mattiello, Amalia, primary, Tumino, Rosario, primary, Naccarati, Alessio, primary, Bueno-de-Mesquita, H.B(as)., primary, Peeters, Petra H., primary, Weiderpass, Elisabete, primary, Quirós, J. Ramón, primary, Agudo, Antonio, primary, Sánchez-Cantalejo, Emilio, primary, Ardanaz, Eva, primary, Gavrila, Diana, primary, Dorronsoro, Miren, primary, Werner, Mårten, primary, Hemmingsson, Oskar, primary, Ohlsson, Bodil, primary, Sjöberg, Klas, primary, Wareham, Nicholas J., primary, Khaw, Kay-Tee, primary, Bradbury, Kathryn E., primary, Gunter, Marc J., primary, Cross, Amanda J., primary, Riboli, Elio, primary, Jenab, Mazda, primary, Hainaut, Pierre, primary, and Beretta, Laura, primary

Published
2023
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134. Supplementary Tables from Circulating Osteopontin and Prediction of Hepatocellular Carcinoma Development in a Large European Population

Author

Duarte-Salles, Talita, primary, Misra, Sandeep, primary, Stepien, Magdalena, primary, Plymoth, Amelie, primary, Muller, David, primary, Overvad, Kim, primary, Olsen, Anja, primary, Tjønneland, Anne, primary, Baglietto, Laura, primary, Severi, Gianluca, primary, Boutron-Ruault, Marie-Christine, primary, Turzanski-Fortner, Renee, primary, Kaaks, Rudolf, primary, Boeing, Heiner, primary, Aleksandrova, Krasimira, primary, Trichopoulou, Antonia, primary, Lagiou, Pagona, primary, Bamia, Christina, primary, Pala, Valeria, primary, Palli, Domenico, primary, Mattiello, Amalia, primary, Tumino, Rosario, primary, Naccarati, Alessio, primary, Bueno-de-Mesquita, H.B(as)., primary, Peeters, Petra H., primary, Weiderpass, Elisabete, primary, Quirós, J. Ramón, primary, Agudo, Antonio, primary, Sánchez-Cantalejo, Emilio, primary, Ardanaz, Eva, primary, Gavrila, Diana, primary, Dorronsoro, Miren, primary, Werner, Mårten, primary, Hemmingsson, Oskar, primary, Ohlsson, Bodil, primary, Sjöberg, Klas, primary, Wareham, Nicholas J., primary, Khaw, Kay-Tee, primary, Bradbury, Kathryn E., primary, Gunter, Marc J., primary, Cross, Amanda J., primary, Riboli, Elio, primary, Jenab, Mazda, primary, Hainaut, Pierre, primary, and Beretta, Laura, primary

Published
2023
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135. Association of ESR1 gene tagging SNPs with breast cancer risk

Author

Dunning, Alison M, Healey, Catherine S, Baynes, Caroline, Maia, Ana-Teresa, Scollen, Serena, Vega, Ana, Rodríguez, Raquel, Barbosa-Morais, Nuno L, Ponder, Bruce AJ, Low, Yen-Ling, Bingham, Sheila, Haiman, Christopher A, Le Marchand, Loic, Broeks, Annegien, Schmidt, Marjanka K, Hopper, John, Southey, Melissa, Beckmann, Matthias W, Fasching, Peter A, Peto, Julian, Johnson, Nichola, Bojesen, Stig E, Nordestgaard, Børge, Milne, Roger L, Benitez, Javier, Hamann, Ute, Ko, Yon, Schmutzler, Rita K, Burwinkel, Barbara, Schürmann, Peter, Dörk, Thilo, Heikkinen, Tuomas, Nevanlinna, Heli, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Chen, Xiaoqing, Spurdle, Amanda, Change-Claude, Jenny, Flesch-Janys, Dieter, Couch, Fergus J, Olson, Janet E, Severi, Gianluca, Baglietto, Laura, Børresen-Dale, Anne-Lise, Kristensen, Vessela, Hunter, David J, Hankinson, Susan E, Devilee, Peter, Vreeswijk, Maaike, Lissowska, Jolanta, Brinton, Louise, Liu, Jianjun, Hall, Per, Kang, Daehee, Yoo, Keun-Young, Shen, Chen-Yang, Yu, Jyh-Cherng, Anton-Culver, Hoda, Ziogoas, Argyrios, Sigurdson, Alice, Struewing, Jeff, Easton, Douglas F, Garcia-Closas, Montserrat, Humphreys, Manjeet K, Morrison, Jonathan, Pharoah, Paul DP, Pooley, Karen A, and Chenevix-Trench, Georgia

Subjects
Genetics, Cancer, Breast Cancer, Prevention, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Breast Neoplasms, Estrogen Receptor alpha, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Neoplasm Staging, Polymorphism, Single Nucleotide, RNA, Neoplasm, SEARCH, EPIC, MEC, ABCS, ABCFS, BBCC, BBCS, CGPS, CNIO-BCS, GENICA, GC-HBOC, HABCS, HEBCS, KARBAC, KBCS, kConFab and the AOCS Management Group, MARIE, for MCBCS, MCCS, NBCS, NHS, ORIGO, PBCS, SASBAC, SEBCS, TWBCS, UCIBCS, USRTS, BCAC, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55,000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. Carriers of the c-allele have an odds ratio (OR) of 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P = 0.004. There is significant heterogeneity between studies, P = 0.002. The increased risk appears largely confined to oestrogen receptor-positive tumour risk. The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms.

Published
2009

137. DNA methylome analysis identifies accelerated epigenetic ageing associated with postmenopausal breast cancer susceptibility

Author

Ambatipudi, Srikant, Horvath, Steve, Perrier, Flavie, Cuenin, Cyrille, Hernandez-Vargas, Hector, Le Calvez-Kelm, Florence, Durand, Geoffroy, Byrnes, Graham, Ferrari, Pietro, Bouaoun, Liacine, Sklias, Athena, Chajes, Véronique, Overvad, Kim, Severi, Gianluca, Baglietto, Laura, Clavel-Chapelon, Françoise, Kaaks, Rudolf, Barrdahl, Myrto, Boeing, Heiner, Trichopoulou, Antonia, Lagiou, Pagona, Naska, Androniki, Masala, Giovanna, Agnoli, Claudia, Polidoro, Silvia, Tumino, Rosario, Panico, Salvatore, Dollé, Martijn, Peeters, Petra H.M., Onland-Moret, N. Charlotte, Sandanger, Torkjel M., Nøst, Therese H., Weiderpass, Elisabete, Quirós, J. Ramón, Agudo, Antonio, Rodriguez-Barranco, Miguel, Huerta Castaño, José María, Barricarte, Aurelio, Fernández, Ander Matheu, Travis, Ruth C., Vineis, Paolo, Muller, David C., Riboli, Elio, Gunter, Marc, Romieu, Isabelle, and Herceg, Zdenko

Published
2017
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138. Socioeconomic status and the 25 × 25 risk factors as determinants of premature mortality: a multicohort study and meta-analysis of 1·7 million men and women

Author

Alenius, Harri, Avendano, Mauricio, Barros, Henrique, Bochud, Murielle, Carmeli, Cristian, Carra, Luca, Castagné, Raphaele, Chadeau-Hyam, Marc, Clavel-Chapelon, Françoise, Costa, Giuseppe, Courtin, Emilie, Delpierre, Cyrille, D'Errico, Angelo, Dugué, Pierre-Antoine, Elliott, Paul, Fraga, Silvia, Gares, Valérie, Giles, Graham, Goldberg, Marcel, Greco, Dario, Hodge, Allison, Irving, Michelle Kelly, Karisola, Piia, Kivimäki, Mika, Krogh, Vittorio, Lang, Thierry, Layte, Richard, Lepage, Benoit, Mackenbach, Johan, Marmot, Michael, McCrory, Cathal, Milne, Roger, Muennig, Peter, Nusselder, Wilma, Panico, Salvatore, Petrovic, Dusan, Polidoro, Silvia, Preisig, Martin, Raitakari, Olli, Ribeiro, Ana Isabel, Ricceri, Fulvio, Robinson, Oliver, Valverde, Jose Rubio, Sacerdote, Carlotta, Satolli, Roberto, Severi, Gianluca, Shipley, Martin J, Stringhini, Silvia, Tumino, Rosario, Vineis, Paolo, Vollenweider, Peter, Zins, Marie, Jokela, Markus, Avendaño, Mauricio, Guida, Florence, d'Errico, Angelo, Giles, Graham G, Kelly-Irving, Michelle, Lasserre, Aurélie M, Marmot, Michael G, Kawachi, Ichiro, Steptoe, Andrew, and Mackenbach, Johan P

Published
2017
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139. Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

Author

Seyed Khoei, Nazlisadat, Jenab, Mazda, Murphy, Neil, Banbury, Barbara L., Carreras-Torres, Robert, Viallon, Vivian, Kühn, Tilman, Bueno-de-Mesquita, Bas, Aleksandrova, Krasimira, Cross, Amanda J., Weiderpass, Elisabete, Stepien, Magdalena, Bulmer, Andrew, Tjønneland, Anne, Boutron-Ruault, Marie-Christine, Severi, Gianluca, Carbonnel, Franck, Katzke, Verena, Boeing, Heiner, Bergmann, Manuela M., Trichopoulou, Antonia, Karakatsani, Anna, Martimianaki, Georgia, Palli, Domenico, Tagliabue, Giovanna, Panico, Salvatore, Tumino, Rosario, Sacerdote, Carlotta, Skeie, Guri, Merino, Susana, Bonet, Catalina, Rodríguez-Barranco, Miguel, Gil, Leire, Chirlaque, Maria-Dolores, Ardanaz, Eva, Myte, Robin, Hultdin, Johan, Perez-Cornago, Aurora, Aune, Dagfinn, Tsilidis, Konstantinos K., Albanes, Demetrius, Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Brenner, Hermann, Campbell, Peter T., Casey, Graham, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Cotterchio, Michelle, Gallinger, Steven, Gruber, Stephen B., Haile, Robert W., Hampe, Jochen, Hoffmeister, Michael, Hopper, John L., Hsu, Li, Huyghe, Jeroen R., Jenkins, Mark A., Joshi, Amit D., Kampman, Ellen, Larsson, Susanna C., Le Marchand, Loic, Li, Christopher I., Li, Li, Lindblom, Annika, Lindor, Noralane M., Martín, Vicente, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Parfrey, Patrick S., Pharoah, Paul D. P., Rennert, Gad, Sakoda, Lori C., Schafmayer, Clemens, Schmit, Stephanie L., Schoen, Robert E., Slattery, Martha L., Thibodeau, Stephen N., Ulrich, Cornelia M., van Duijnhoven, Franzel J. B., Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zhang, Xuehong, Ferrari, Pietro, Anton, Gabriele, Peters, Annette, Peters, Ulrike, Gunter, Marc J., Wagner, Karl-Heinz, and Freisling, Heinz

Published
2020
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141. Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

Author

Papadimitriou, Nikos, Dimou, Niki, Tsilidis, Konstantinos K., Banbury, Barbara, Martin, Richard M., Lewis, Sarah J., Kazmi, Nabila, Robinson, Timothy M., Albanes, Demetrius, Aleksandrova, Krasimira, Berndt, Sonja I., Timothy Bishop, D., Brenner, Hermann, Buchanan, Daniel D., Bueno-de-Mesquita, Bas, Campbell, Peter T., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Ellingjord-Dale, Merete, Figueiredo, Jane C., Gallinger, Steven J., Giles, Graham G., Giovannucci, Edward, Gruber, Stephen B., Gsur, Andrea, Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Harrison, Tabitha A., Hoffmeister, Michael, Hopper, John L., Hsu, Li, María Huerta, José, Huyghe, Jeroen R., Jenkins, Mark A., Keku, Temitope O., Kühn, Tilman, La Vecchia, Carlo, Le Marchand, Loic, Li, Christopher I., Li, Li, Lindblom, Annika, Lindor, Noralane M., Lynch, Brigid, Markowitz, Sanford D., Masala, Giovanna, May, Anne M., Milne, Roger, Monninkhof, Evelyn, Moreno, Lorena, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Perduca, Vittorio, Pharoah, Paul D. P., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Riboli, Elio, Sánchez, Maria-Jose, Schmit, Stephanie L., Schoen, Robert E., Severi, Gianluca, Sieri, Sabina, Slattery, Martha L., Song, Mingyang, Tangen, Catherine M., Thibodeau, Stephen N., Travis, Ruth C., Trichopoulou, Antonia, Ulrich, Cornelia M., van Duijnhoven, Franzel J. B., Van Guelpen, Bethany, Vodicka, Pavel, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Peters, Ulrike, Gunter, Marc J., and Murphy, Neil

Published
2020
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142. Lifestyle factors and risk of multimorbidity of cancer and cardiometabolic diseases: a multinational cohort study

Author

Freisling, Heinz, Viallon, Vivian, Lennon, Hannah, Bagnardi, Vincenzo, Ricci, Cristian, Butterworth, Adam S., Sweeting, Michael, Muller, David, Romieu, Isabelle, Bazelle, Pauline, Kvaskoff, Marina, Arveux, Patrick, Severi, Gianluca, Bamia, Christina, Kühn, Tilman, Kaaks, Rudolf, Bergmann, Manuela, Boeing, Heiner, Tjønneland, Anne, Olsen, Anja, Overvad, Kim, Dahm, Christina C., Menéndez, Virginia, Agudo, Antonio, Sánchez, Maria-Jose, Amiano, Pilar, Santiuste, Carmen, Gurrea, Aurelio Barricarte, Tong, Tammy Y. N., Schmidt, Julie A., Tzoulaki, Ioanna, Tsilidis, Konstantinos K., Ward, Heather, Palli, Domenico, Agnoli, Claudia, Tumino, Rosario, Ricceri, Fulvio, Panico, Salvatore, Picavet, H. Susan J., Bakker, Marije, Monninkhof, Evelyn, Nilsson, Peter, Manjer, Jonas, Rolandsson, Olov, Thysell, Elin, Weiderpass, Elisabete, Jenab, Mazda, Riboli, Elio, Vineis, Paolo, Danesh, John, Wareham, Nick J., Gunter, Marc J., and Ferrari, Pietro

Published
2020
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143. The blood metabolome of incident kidney cancer: A case-control study nested within the MetKid consortium

Author

Guida, Florence, Tan, Vanessa Y., Corbin, Laura J., Smith-Byrne, Karl, Alcala, Karine, Langenberg, Claudia, Stewart, Isobel D., Butterworth, Adam S., Surendran, Praveen, Achaintre, David, Adamski, Jerzy, Amiano Exezarreta, Pilar, Bergmann, Manuela M., Bull, Caroline J., Dahm, Christina C., Gicquiau, Audrey, Giles, Graham G., Gunter, Marc J., Haller, Toomas, Langhammer, Arnulf, Larose, Tricia L., Ljungberg, Börje, Metspalu, Andres, Milne, Roger L., Muller, David C., Nøst, Therese H., Pettersen Sørgjerd, Elin, Prehn, Cornelia, Riboli, Elio, Rinaldi, Sabina, Rothwell, Joseph A., Scalbert, Augustin, Schmidt, Julie A., Severi, Gianluca, Sieri, Sabina, Vermeulen, Roel, Vincent, Emma E., Waldenberger, Melanie, Timpson, Nicholas J., and Johansson, Mattias

Subjects
Kidney cancer -- Risk factors -- Development and progression -- Physiological aspects, Metabolites -- Health aspects -- Measurement, Body mass index, Biological sciences
Abstract

Background Excess bodyweight and related metabolic perturbations have been implicated in kidney cancer aetiology, but the specific molecular mechanisms underlying these relationships are poorly understood. In this study, we sought to identify circulating metabolites that predispose kidney cancer and to evaluate the extent to which they are influenced by body mass index (BMI). Methods and findings We assessed the association between circulating levels of 1,416 metabolites and incident kidney cancer using pre-diagnostic blood samples from up to 1,305 kidney cancer case-control pairs from 5 prospective cohort studies. Cases were diagnosed on average 8 years after blood collection. We found 25 metabolites robustly associated with kidney cancer risk. In particular, 14 glycerophospholipids (GPLs) were inversely associated with risk, including 8 phosphatidylcholines (PCs) and 2 plasmalogens. The PC with the strongest association was PC ae C34:3 with an odds ratio (OR) for 1 standard deviation (SD) increment of 0.75 (95% confidence interval [CI]: 0.68 to 0.83, p = 2.6 x 10.sup.-8). In contrast, 4 amino acids, including glutamate (OR for 1 SD = 1.39, 95% CI: 1.20 to 1.60, p = 1.6 x 10.sup.-5 ), were positively associated with risk. Adjusting for BMI partly attenuated the risk association for some-but not all-metabolites, whereas other known risk factors of kidney cancer, such as smoking and alcohol consumption, had minimal impact on the observed associations. A mendelian randomisation (MR) analysis of the influence of BMI on the blood metabolome highlighted that some metabolites associated with kidney cancer risk are influenced by BMI. Specifically, elevated BMI appeared to decrease levels of several GPLs that were also found inversely associated with kidney cancer risk (e.g., -0.17 SD change [ß.sub.BMI ] in 1-(1-enyl-palmitoyl)-2-linoleoyl-GPC (P-16:0/18:2) levels per SD change in BMI, p = 3.4 x 10.sup.-5). BMI was also associated with increased levels of glutamate (ß.sub.BMI : 0.12, p = 1.5 x 10.sup.-3). While our results were robust across the participating studies, they were limited to study participants of European descent, and it will, therefore, be important to evaluate if our findings can be generalised to populations with different genetic backgrounds. Conclusions This study suggests a potentially important role of the blood metabolome in kidney cancer aetiology by highlighting a wide range of metabolites associated with the risk of developing kidney cancer and the extent to which changes in levels of these metabolites are driven by BMI-the principal modifiable risk factor of kidney cancer., Author(s): Florence Guida 1, Vanessa Y. Tan 2,3, Laura J. Corbin 2,3, Karl Smith-Byrne 1, Karine Alcala 1, Claudia Langenberg 4, Isobel D. Stewart 4, Adam S. Butterworth 5,6,7,8, Praveen [...]

Published
2021
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145. Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Author

Bien, Stephanie A., Su, Yu-Ru, Conti, David V., Harrison, Tabitha A., Qu, Conghui, Guo, Xingyi, Lu, Yingchang, Albanes, Demetrius, Auer, Paul L., Banbury, Barbara L., Berndt, Sonja I., Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D., Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Chan, Andrew T., Chang-Claude, Jenny, Chen, Sai, Connolly, Charles M., Easton, Douglas F., Feskens, Edith J. M., Gallinger, Steven, Giles, Graham G., Gunter, Marc J., Hampe, Jochen, Huyghe, Jeroen R., Hoffmeister, Michael, Hudson, Thomas J., Jacobs, Eric J., Jenkins, Mark A., Kampman, Ellen, Kang, Hyun Min, Kühn, Tilman, Küry, Sébastien, Lejbkowicz, Flavio, Le Marchand, Loic, Milne, Roger L., Li, Li, Li, Christopher I., Lindblom, Annika, Lindor, Noralane M., Martín, Vicente, McNeil, Caroline E., Melas, Marilena, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Pharaoh, Paul D. P., Potter, John D., Qu, Chenxu, Riboli, Elio, Rennert, Gad, Sala, Núria, Schafmayer, Clemens, Scacheri, Peter C., Schmit, Stephanie L., Severi, Gianluca, Slattery, Martha L., Smith, Joshua D., Trichopoulou, Antonia, Tumino, Rosario, Ulrich, Cornelia M., van Duijnhoven, Fränzel J. B., Van Guelpen, Bethany, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Abeçasis, Goncalo R., Casey, Graham, Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, Zheng, Wei, and Peters, Ulrike

Published
2019
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146. Appendix from Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk

Author

MacInnis, Robert J., primary, Schmidt, Daniel F., primary, Makalic, Enes, primary, Severi, Gianluca, primary, FitzGerald, Liesel M., primary, Reumann, Matthias, primary, Kapuscinski, Miroslaw K., primary, Kowalczyk, Adam, primary, Zhou, Zeyu, primary, Goudey, Benjamin, primary, Qian, Guoqi, primary, Bui, Quang M., primary, Park, Daniel J., primary, Freeman, Adam, primary, Southey, Melissa C., primary, Al Olama, Ali Amin, primary, Kote-Jarai, Zsofia, primary, Eeles, Rosalind A., primary, Hopper, John L., primary, and Giles, Graham G., primary

Published
2023
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147. Supplementary Materials and Methods from A Meta-analysis of Individual Participant Data Reveals an Association between Circulating Levels of IGF-I and Prostate Cancer Risk

Author

Travis, Ruth C., primary, Appleby, Paul N., primary, Martin, Richard M., primary, Holly, Jeff M.P., primary, Albanes, Demetrius, primary, Black, Amanda, primary, Bueno-de-Mesquita, H. Bas, primary, Chan, June M., primary, Chen, Chu, primary, Chirlaque, Maria-Dolores, primary, Cook, Michael B., primary, Deschasaux, Mélanie, primary, Donovan, Jenny L., primary, Ferrucci, Luigi, primary, Galan, Pilar, primary, Giles, Graham G., primary, Giovannucci, Edward L., primary, Gunter, Marc J., primary, Habel, Laurel A., primary, Hamdy, Freddie C., primary, Helzlsouer, Kathy J., primary, Hercberg, Serge, primary, Hoover, Robert N., primary, Janssen, Joseph A.M.J.L., primary, Kaaks, Rudolf, primary, Kubo, Tatsuhiko, primary, Le Marchand, Loic, primary, Metter, E. Jeffrey, primary, Mikami, Kazuya, primary, Morris, Joan K., primary, Neal, David E., primary, Neuhouser, Marian L., primary, Ozasa, Kotaro, primary, Palli, Domenico, primary, Platz, Elizabeth A., primary, Pollak, Michael N., primary, Price, Alison J., primary, Roobol, Monique J., primary, Schaefer, Catherine, primary, Schenk, Jeannette M., primary, Severi, Gianluca, primary, Stampfer, Meir J., primary, Stattin, Pär, primary, Tamakoshi, Akiko, primary, Tangen, Catherine M., primary, Touvier, Mathilde, primary, Wald, Nicholas J., primary, Weiss, Noel S., primary, Ziegler, Regina G., primary, Key, Timothy J., primary, and Allen, Naomi E., primary

Published
2023
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148. Data from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Author

Amin Al Olama, Ali, primary, Benlloch, Sara, primary, Antoniou, Antonis C., primary, Giles, Graham G., primary, Severi, Gianluca, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Donovan, Jenny L., primary, Muir, Kenneth, primary, Schleutker, Johanna, primary, Henderson, Brian E., primary, Haiman, Christopher A., primary, Schumacher, Fredrick R., primary, Pashayan, Nora, primary, Pharoah, Paul D.P., primary, Ostrander, Elaine A., primary, Stanford, Janet L., primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Chambers, Suzanne K., primary, Weischer, Maren, primary, Nordestgaard, Børge G., primary, Ingles, Sue A., primary, Sorensen, Karina D., primary, Orntoft, Torben F., primary, Park, Jong Y., primary, Cybulski, Cezary, primary, Maier, Christiane, primary, Doerk, Thilo, primary, Dickinson, Joanne L., primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Rebbeck, Timothy R., primary, Zeigler-Johnson, Charnita, primary, Habuchi, Tomonori, primary, Thibodeau, Stephen N., primary, Cooney, Kathleen A., primary, Chappuis, Pierre O., primary, Hutter, Pierre, primary, Kaneva, Radka P., primary, Foulkes, William D., primary, Zeegers, Maurice P., primary, Lu, Yong-Jie, primary, Zhang, Hong-Wei, primary, Stephenson, Robert, primary, Cox, Angela, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, FitzGerald, Liesel, primary, Leongamornlert, Daniel, primary, Saunders, Edward, primary, Tymrakiewicz, Malgorzata, primary, Guy, Michelle, primary, Dadaev, Tokhir, primary, Little, Sarah J., primary, Govindasami, Koveela, primary, Sawyer, Emma, primary, Wilkinson, Rosemary, primary, Herkommer, Kathleen, primary, Hopper, John L., primary, Lophatonanon, Aritaya, primary, Rinckleb, Antje E., primary, Kote-Jarai, Zsofia, primary, Eeles, Rosalind A., primary, and Easton, Douglas F., primary

Published
2023
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149. Supplementary Figure Legends from A Meta-analysis of Individual Participant Data Reveals an Association between Circulating Levels of IGF-I and Prostate Cancer Risk

Author

Travis, Ruth C., primary, Appleby, Paul N., primary, Martin, Richard M., primary, Holly, Jeff M.P., primary, Albanes, Demetrius, primary, Black, Amanda, primary, Bueno-de-Mesquita, H. Bas, primary, Chan, June M., primary, Chen, Chu, primary, Chirlaque, Maria-Dolores, primary, Cook, Michael B., primary, Deschasaux, Mélanie, primary, Donovan, Jenny L., primary, Ferrucci, Luigi, primary, Galan, Pilar, primary, Giles, Graham G., primary, Giovannucci, Edward L., primary, Gunter, Marc J., primary, Habel, Laurel A., primary, Hamdy, Freddie C., primary, Helzlsouer, Kathy J., primary, Hercberg, Serge, primary, Hoover, Robert N., primary, Janssen, Joseph A.M.J.L., primary, Kaaks, Rudolf, primary, Kubo, Tatsuhiko, primary, Le Marchand, Loic, primary, Metter, E. Jeffrey, primary, Mikami, Kazuya, primary, Morris, Joan K., primary, Neal, David E., primary, Neuhouser, Marian L., primary, Ozasa, Kotaro, primary, Palli, Domenico, primary, Platz, Elizabeth A., primary, Pollak, Michael N., primary, Price, Alison J., primary, Roobol, Monique J., primary, Schaefer, Catherine, primary, Schenk, Jeannette M., primary, Severi, Gianluca, primary, Stampfer, Meir J., primary, Stattin, Pär, primary, Tamakoshi, Akiko, primary, Tangen, Catherine M., primary, Touvier, Mathilde, primary, Wald, Nicholas J., primary, Weiss, Noel S., primary, Ziegler, Regina G., primary, Key, Timothy J., primary, and Allen, Naomi E., primary

Published
2023
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150. Data from Cyclin D1 Splice Variants: Polymorphism, Risk, and Isoform-Specific Regulation in Prostate Cancer

Author

Comstock, Clay E.S., primary, Augello, Michael A., primary, Benito, Ruth Pe, primary, Karch, Jason, primary, Tran, Thai H., primary, Utama, Fransiscus E., primary, Tindall, Elizabeth A., primary, Wang, Ying, primary, Burd, Craig J., primary, Groh, Eric M., primary, Hoang, Hoa N., primary, Giles, Graham G., primary, Severi, Gianluca, primary, Hayes, Vanessa M., primary, Henderson, Brian E., primary, Le Marchand, Loic, primary, Kolonel, Laurence N., primary, Haiman, Christopher A., primary, Baffa, Raffaele, primary, Gomella, Leonard G., primary, Knudsen, Erik S., primary, Rui, Hallgeir, primary, Henshall, Susan M., primary, Sutherland, Robert L., primary, and Knudsen, Karen E., primary

Published
2023
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