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1. Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

Author

Kabisch, Maria, Bermejo, Justo Lorenzo, Dünnebier, Thomas, Ying, Shibo, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Shah, Mitul, Perkins, Barbara J, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Lambrechts, Diether, Neven, Patrick, Peeters, Stephanie, Weltens, Caroline, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Purrington, Kristen, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, dos-Santos-Silva, Isabel, Johnson, Nichola, Fletcher, Olivia, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Schmidt, Marjanka K, Broeks, Annegien, Cornelissen, Sten, Hogervorst, Frans BL, Li, Jingmei, Brand, Judith S, Humphreys, Keith, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Burwinkel, Barbara, Marmé, Frederik, Yang, Rongxi, Bugert, Peter, González-Neira, Anna, Benitez, Javier, Zamora, M Pilar, Perez, Jose I Arias, Cox, Angela, Cross, Simon S, Reed, Malcolm WR, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Haiman, Christopher A, Schumacher, Fredrick, Henderson, Brian E, Le Marchand, Loic, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J, Hollestelle, Antoinette, Kriege, Mieke, Koppert, Linetta B, Hopper, John L, Southey, Melissa C, Tsimiklis, Helen, Apicella, Carmel, Slettedahl, Seth, Toland, Amanda E, Vachon, Celine, Yannoukakos, Drakoulis, Giles, Graham G, Milne, Roger L, McLean, Catriona, Fasching, Peter A, Ruebner, Matthias, Ekici, Arif B, Beckmann, Matthias W, Brenner, Hermann, Dieffenbach, Aida K, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nicholas, Schoemaker, Minouk J, and Swerdlow, Anthony

Subjects
Cancer, Human Genome, Prevention, Breast Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, 3' Untranslated Regions, Aurora Kinase B, Breast Neoplasms, Case-Control Studies, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Inhibitor of Apoptosis Proteins, Polymorphism, Single Nucleotide, Receptors, Estrogen, Risk, Survivin, White People, kConFab Investigators, Australian Ovarian Cancer Study Group, GENICA Network, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

The chromosomal passenger complex (CPC) plays a pivotal role in the regulation of cell division. Therefore, inherited CPC variability could influence tumor development. The present candidate gene approach investigates the relationship between single nucleotide polymorphisms (SNPs) in genes encoding key CPC components and breast cancer risk. Fifteen SNPs in four CPC genes (INCENP, AURKB, BIRC5 and CDCA8) were genotyped in 88 911 European women from 39 case-control studies of the Breast Cancer Association Consortium. Possible associations were investigated in fixed-effects meta-analyses. The synonymous SNP rs1675126 in exon 7 of INCENP was associated with overall breast cancer risk [per A allele odds ratio (OR) 0.95, 95% confidence interval (CI) 0.92-0.98, P = 0.007] and particularly with estrogen receptor (ER)-negative breast tumors (per A allele OR 0.89, 95% CI 0.83-0.95, P = 0.0005). SNPs not directly genotyped were imputed based on 1000 Genomes. The SNPs rs1047739 in the 3' untranslated region and rs144045115 downstream of INCENP showed the strongest association signals for overall (per T allele OR 1.03, 95% CI 1.00-1.06, P = 0.0009) and ER-negative breast cancer risk (per A allele OR 1.06, 95% CI 1.02-1.10, P = 0.0002). Two genotyped SNPs in BIRC5 were associated with familial breast cancer risk (top SNP rs2071214: per G allele OR 1.12, 95% CI 1.04-1.21, P = 0.002). The data suggest that INCENP in the CPC pathway contributes to ER-negative breast cancer susceptibility in the European population. In spite of a modest contribution of CPC-inherited variants to the total burden of sporadic and familial breast cancer, their potential as novel targets for breast cancer treatment should be further investigated.

Published
2015

2. Data from Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer

Author

Stevens, Kristen N., primary, Vachon, Celine M., primary, Lee, Adam M., primary, Slager, Susan, primary, Lesnick, Timothy, primary, Olswold, Curtis, primary, Fasching, Peter A., primary, Miron, Penelope, primary, Eccles, Diana, primary, Carpenter, Jane E., primary, Godwin, Andrew K., primary, Ambrosone, Christine, primary, Winqvist, Robert, primary, Brauch, Hiltrud, primary, Schmidt, Marjanka K., primary, Cox, Angela, primary, Cross, Simon S., primary, Sawyer, Elinor, primary, Hartmann, Arndt, primary, Beckmann, Matthias W., primary, Schulz-Wendtland, Rüdiger, primary, Ekici, Arif B., primary, Tapper, William J., primary, Gerty, Susan M., primary, Durcan, Lorraine, primary, Graham, Nikki, primary, Hein, Rebecca, primary, Nickels, Stephan, primary, Flesch-Janys, Dieter, primary, Heinz, Judith, primary, Sinn, Hans-Peter, primary, Konstantopoulou, Irene, primary, Fostira, Florentia, primary, Pectasides, Dimitrios, primary, Dimopoulos, Athanasios M., primary, Fountzilas, George, primary, Clarke, Christine L., primary, Balleine, Rosemary, primary, Olson, Janet E., primary, Fredericksen, Zachary, primary, Diasio, Robert B., primary, Pathak, Harsh, primary, Ross, Eric, primary, Weaver, JoEllen, primary, Rüdiger, Thomas, primary, Försti, Asta, primary, Dünnebier, Thomas, primary, Ademuyiwa, Foluso, primary, Kulkarni, Swati, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Ko, Yon-Dschun, primary, Van Limbergen, Erik, primary, Janssen, Hilde, primary, Peto, Julian, primary, Fletcher, Olivia, primary, Giles, Graham G., primary, Baglietto, Laura, primary, Verhoef, Senno, primary, Tomlinson, Ian, primary, Kosma, Veli-Matti, primary, Beesley, Jonathan, primary, Greco, Dario, primary, Blomqvist, Carl, primary, Irwanto, Astrid, primary, Liu, Jianjun, primary, Blows, Fiona M., primary, Dawson, Sarah-Jane, primary, Margolin, Sara, primary, Mannermaa, Arto, primary, Martin, Nicholas G., primary, Montgomery, Grant W., primary, Lambrechts, Diether, primary, dos Santos Silva, Isabel, primary, Severi, Gianluca, primary, Hamann, Ute, primary, Pharoah, Paul, primary, Easton, Douglas F., primary, Chang-Claude, Jenny, primary, Yannoukakos, Drakoulis, primary, Nevanlinna, Heli, primary, Wang, Xianshu, primary, and Couch, Fergus J., primary

Published
2023
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3. Data from 19p13.1 Is a Triple-Negative–Specific Breast Cancer Susceptibility Locus

Author

Stevens, Kristen N., primary, Fredericksen, Zachary, primary, Vachon, Celine M., primary, Wang, Xianshu, primary, Margolin, Sara, primary, Lindblom, Annika, primary, Nevanlinna, Heli, primary, Greco, Dario, primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Chang-Claude, Jenny, primary, Vrieling, Alina, primary, Flesch-Janys, Dieter, primary, Sinn, Hans-Peter, primary, Wang-Gohrke, Shan, primary, Nickels, Stefan, primary, Brauch, Hiltrud, primary, Ko, Yon-Dschun, primary, Fischer, Hans-Peter, primary, Schmutzler, Rita K., primary, Meindl, Alfons, primary, Bartram, Claus R., primary, Schott, Sarah, primary, Engel, Christoph, primary, Godwin, Andrew K., primary, Weaver, JoEllen, primary, Pathak, Harsh B., primary, Sharma, Priyanka, primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Miron, Penelope, primary, Yannoukakos, Drakoulis, primary, Stavropoulou, Alexandra, primary, Fountzilas, George, primary, Gogas, Helen J., primary, Swann, Ruth, primary, Dwek, Miriam, primary, Perkins, Annie, primary, Milne, Roger L., primary, Benítez, Javier, primary, Zamora, María Pilar, primary, Pérez, José Ignacio Arias, primary, Bojesen, Stig E., primary, Nielsen, Sune F., primary, Nordestgaard, Børge G., primary, Flyger, Henrik, primary, Guénel, Pascal, primary, Truong, Thérèse, primary, Menegaux, Florence, primary, Cordina-Duverger, Emilie, primary, Burwinkel, Barbara, primary, Marmé, Frederick, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael J., primary, Peto, Julian, primary, Johnson, Nichola, primary, Fletcher, Olivia, primary, dos Santos Silva, Isabel, primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Hartmann, Arndt, primary, Ekici, Arif B., primary, Lophatananon, Artitaya, primary, Muir, Kenneth, primary, Puttawibul, Puttisak, primary, Wiangnon, Surapon, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Braaf, Linde M., primary, Rosenberg, Efraim H., primary, Hopper, John L., primary, Apicella, Carmel, primary, Park, Daniel J., primary, Southey, Melissa C., primary, Swerdlow, Anthony J., primary, Ashworth, Alan, primary, Orr, Nicholas, primary, Schoemaker, Minouk J., primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Bernstein, Leslie, primary, Dur, Christina Clarke, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Hsu, Huan-Ming, primary, Hsiung, Chia-Ni, primary, Hamann, Ute, primary, Dünnebier, Thomas, primary, Rüdiger, Thomas, primary, Ulmer, Hans Ulrich, primary, Pharoah, Paul P., primary, Dunning, Alison M., primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Cox, Angela, primary, Cross, Simon S., primary, Reed, Malcom W., primary, Hall, Per, primary, Czene, Kamila, primary, Ambrosone, Christine B., primary, Ademuyiwa, Foluso, primary, Hwang, Helena, primary, Eccles, Diana M., primary, Garcia-Closas, Montserrat, primary, Figueroa, Jonine D., primary, Sherman, Mark E., primary, Lissowska, Jolanta, primary, Devilee, Peter, primary, Seynaeve, Caroline, primary, Tollenaar, Rob A.E.M., primary, Hooning, Maartje J., primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, John, Esther M., primary, Miron, Alexander, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børresen-Dale, Anne-Lise, primary, Giles, Graham G., primary, Baglietto, Laura, primary, McLean, Catriona A., primary, Severi, Gianluca, primary, Kosel, Matthew L., primary, Pankratz, V.S., primary, Slager, Susan, primary, Olson, Janet E., primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Lambrechts, Diether, primary, Hatse, Sigrid, primary, Dieudonne, Anne-Sophie, primary, Christiaens, Marie-Rose, primary, Chenevix-Trench, Georgia, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Mannermaa, Arto, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Soini, Ylermi, primary, Easton, Douglas F., primary, and Couch, Fergus J., primary

Published
2023
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4. Supplementary Materials and Methods, Tables 1-5 from Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer

Author

Stevens, Kristen N., primary, Vachon, Celine M., primary, Lee, Adam M., primary, Slager, Susan, primary, Lesnick, Timothy, primary, Olswold, Curtis, primary, Fasching, Peter A., primary, Miron, Penelope, primary, Eccles, Diana, primary, Carpenter, Jane E., primary, Godwin, Andrew K., primary, Ambrosone, Christine, primary, Winqvist, Robert, primary, Brauch, Hiltrud, primary, Schmidt, Marjanka K., primary, Cox, Angela, primary, Cross, Simon S., primary, Sawyer, Elinor, primary, Hartmann, Arndt, primary, Beckmann, Matthias W., primary, Schulz-Wendtland, Rüdiger, primary, Ekici, Arif B., primary, Tapper, William J., primary, Gerty, Susan M., primary, Durcan, Lorraine, primary, Graham, Nikki, primary, Hein, Rebecca, primary, Nickels, Stephan, primary, Flesch-Janys, Dieter, primary, Heinz, Judith, primary, Sinn, Hans-Peter, primary, Konstantopoulou, Irene, primary, Fostira, Florentia, primary, Pectasides, Dimitrios, primary, Dimopoulos, Athanasios M., primary, Fountzilas, George, primary, Clarke, Christine L., primary, Balleine, Rosemary, primary, Olson, Janet E., primary, Fredericksen, Zachary, primary, Diasio, Robert B., primary, Pathak, Harsh, primary, Ross, Eric, primary, Weaver, JoEllen, primary, Rüdiger, Thomas, primary, Försti, Asta, primary, Dünnebier, Thomas, primary, Ademuyiwa, Foluso, primary, Kulkarni, Swati, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Ko, Yon-Dschun, primary, Van Limbergen, Erik, primary, Janssen, Hilde, primary, Peto, Julian, primary, Fletcher, Olivia, primary, Giles, Graham G., primary, Baglietto, Laura, primary, Verhoef, Senno, primary, Tomlinson, Ian, primary, Kosma, Veli-Matti, primary, Beesley, Jonathan, primary, Greco, Dario, primary, Blomqvist, Carl, primary, Irwanto, Astrid, primary, Liu, Jianjun, primary, Blows, Fiona M., primary, Dawson, Sarah-Jane, primary, Margolin, Sara, primary, Mannermaa, Arto, primary, Martin, Nicholas G., primary, Montgomery, Grant W., primary, Lambrechts, Diether, primary, dos Santos Silva, Isabel, primary, Severi, Gianluca, primary, Hamann, Ute, primary, Pharoah, Paul, primary, Easton, Douglas F., primary, Chang-Claude, Jenny, primary, Yannoukakos, Drakoulis, primary, Nevanlinna, Heli, primary, Wang, Xianshu, primary, and Couch, Fergus J., primary

Published
2023
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5. Supplementary Tables 1-13 from 19p13.1 Is a Triple-Negative–Specific Breast Cancer Susceptibility Locus

Author

Stevens, Kristen N., primary, Fredericksen, Zachary, primary, Vachon, Celine M., primary, Wang, Xianshu, primary, Margolin, Sara, primary, Lindblom, Annika, primary, Nevanlinna, Heli, primary, Greco, Dario, primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Chang-Claude, Jenny, primary, Vrieling, Alina, primary, Flesch-Janys, Dieter, primary, Sinn, Hans-Peter, primary, Wang-Gohrke, Shan, primary, Nickels, Stefan, primary, Brauch, Hiltrud, primary, Ko, Yon-Dschun, primary, Fischer, Hans-Peter, primary, Schmutzler, Rita K., primary, Meindl, Alfons, primary, Bartram, Claus R., primary, Schott, Sarah, primary, Engel, Christoph, primary, Godwin, Andrew K., primary, Weaver, JoEllen, primary, Pathak, Harsh B., primary, Sharma, Priyanka, primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Miron, Penelope, primary, Yannoukakos, Drakoulis, primary, Stavropoulou, Alexandra, primary, Fountzilas, George, primary, Gogas, Helen J., primary, Swann, Ruth, primary, Dwek, Miriam, primary, Perkins, Annie, primary, Milne, Roger L., primary, Benítez, Javier, primary, Zamora, María Pilar, primary, Pérez, José Ignacio Arias, primary, Bojesen, Stig E., primary, Nielsen, Sune F., primary, Nordestgaard, Børge G., primary, Flyger, Henrik, primary, Guénel, Pascal, primary, Truong, Thérèse, primary, Menegaux, Florence, primary, Cordina-Duverger, Emilie, primary, Burwinkel, Barbara, primary, Marmé, Frederick, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael J., primary, Peto, Julian, primary, Johnson, Nichola, primary, Fletcher, Olivia, primary, dos Santos Silva, Isabel, primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Hartmann, Arndt, primary, Ekici, Arif B., primary, Lophatananon, Artitaya, primary, Muir, Kenneth, primary, Puttawibul, Puttisak, primary, Wiangnon, Surapon, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Braaf, Linde M., primary, Rosenberg, Efraim H., primary, Hopper, John L., primary, Apicella, Carmel, primary, Park, Daniel J., primary, Southey, Melissa C., primary, Swerdlow, Anthony J., primary, Ashworth, Alan, primary, Orr, Nicholas, primary, Schoemaker, Minouk J., primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Bernstein, Leslie, primary, Dur, Christina Clarke, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Hsu, Huan-Ming, primary, Hsiung, Chia-Ni, primary, Hamann, Ute, primary, Dünnebier, Thomas, primary, Rüdiger, Thomas, primary, Ulmer, Hans Ulrich, primary, Pharoah, Paul P., primary, Dunning, Alison M., primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Cox, Angela, primary, Cross, Simon S., primary, Reed, Malcom W., primary, Hall, Per, primary, Czene, Kamila, primary, Ambrosone, Christine B., primary, Ademuyiwa, Foluso, primary, Hwang, Helena, primary, Eccles, Diana M., primary, Garcia-Closas, Montserrat, primary, Figueroa, Jonine D., primary, Sherman, Mark E., primary, Lissowska, Jolanta, primary, Devilee, Peter, primary, Seynaeve, Caroline, primary, Tollenaar, Rob A.E.M., primary, Hooning, Maartje J., primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, John, Esther M., primary, Miron, Alexander, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børresen-Dale, Anne-Lise, primary, Giles, Graham G., primary, Baglietto, Laura, primary, McLean, Catriona A., primary, Severi, Gianluca, primary, Kosel, Matthew L., primary, Pankratz, V.S., primary, Slager, Susan, primary, Olson, Janet E., primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Lambrechts, Diether, primary, Hatse, Sigrid, primary, Dieudonne, Anne-Sophie, primary, Christiaens, Marie-Rose, primary, Chenevix-Trench, Georgia, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Mannermaa, Arto, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Soini, Ylermi, primary, Easton, Douglas F., primary, and Couch, Fergus J., primary

Published
2023
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9. Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases

Author

Bermejo, Justo Lorenzo, Kabisch, Maria, Dünnebier, Thomas, Schnaidt, Sven, Melchior, Frauke, Fischer, Hans-Peter, Harth, Volker, Rabstein, Sylvia, Pesch, Beate, Brüning, Thomas, Justenhoven, Christina, Brauch, Hiltrud, Baisch, Christian, Ko, Yon-Dschun, and Hamann, Ute

Published
2013
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10. Polymorphisms in the and genes of the SUMO-conjugating system and breast cancer risk

Author

Dünnebier, Thomas, Bermejo, Justo Lorenzo, Haas, Susanne, Fischer, Hans-Peter, Pierl, Christiane B., Justenhoven, Christina, Brauch, Hiltrud, Baisch, Christian, Gilbert, Michael, Harth, Volker, Spickenheuer, Anne, Rabstein, Sylvia, Pesch, Beate, Brüning, Thomas, Ko, Yon-Dschun, Hamann, Ute, Molecular Genetics of Breast Cancer (B055), Deutsches Krebsforschungszentrum, Institute of Medical Biometry and Informatics, Heidelberg University Hospital [Heidelberg], Institute of Pathology, Medical Faculty of the University of Bonn, BGFA-Forschungsinstitut für Arbeitsmedizin der Deutschen Gesetzlichen Unfallversicherung, Ruhr University Bochum (RUB), Dr. Margarete Fischer-Bosch Institute for Clinical Pharmacology [Stuttgart], Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Department of Internal Medicine, and Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus

Subjects
and polymorphisms, Tumor grade, Multiple imputation, Breast cancer risk, SUMOylation
Abstract

International audience; SUMOylation consists in the covalent conjugation of small ubiquitin-related modifiers to target proteins. SUMOylation participates in processes that are tightly linked to tumorigenesis, and genetic variability in the SUMO-conjugating system may influence the development of breast cancer. We recently reported that variation in the gene encoding the SUMO-conjugating enzyme may affect the grade of breast tumors. Following comprehensive analyses for detection of putative functional polymorphisms in 14 genes of the SUMO system, we selected one coding SNP in and seven tag SNPs in for association analyses. Results were based on 1,021 cases, and 1,015 matched controls from the population-based GENICA study. Odds ratios (OR) and 95% confidence intervals (CI) were estimated by conditional logistic regression. To explore the association with polymorphisms closely linked to the genotyped variants, multiple imputation based on HapMap data was applied. The study revealed associations of four polymorphisms with risk of grade 1 tumors. Comparison of genotype and haplotype models indicated that the best representation of risk solely relied on rs7187167 under dominant penetrance. Women carrying the rare allele showed an increased risk of grade 1 tumors compared with common homozygotes (OR 1.87, 95% CI 1.18–2.95). This effect appeared to be stronger in women with a family history of breast or ovarian cancer. Imputation of polymorphisms in a 300-kb region around the genotyped polymorphisms identified no variants with stronger associations. Our findings suggest that genetic variation in may affect the risk of grade 1 breast tumors.

Published
2009

12. Exploring the association between genetic variation in the SUMO isopeptidase geneUSPL1and breast cancer through integration of data from the population-based GENICA study and external genetic databases

Author

Bermejo, Justo Lorenzo, primary, Kabisch, Maria, additional, Dünnebier, Thomas, additional, Schnaidt, Sven, additional, Melchior, Frauke, additional, Fischer, Hans-Peter, additional, Harth, Volker, additional, Rabstein, Sylvia, additional, Pesch, Beate, additional, Brüning, Thomas, additional, Justenhoven, Christina, additional, Brauch, Hiltrud, additional, Baisch, Christian, additional, Ko, Yon-Dschun, additional, and Hamann, Ute, additional

Published
2013
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13. 19p13.1 Is a Triple-Negative–Specific Breast Cancer Susceptibility Locus

Author

Stevens, Kristen N., primary, Fredericksen, Zachary, additional, Vachon, Celine M., additional, Wang, Xianshu, additional, Margolin, Sara, additional, Lindblom, Annika, additional, Nevanlinna, Heli, additional, Greco, Dario, additional, Aittomäki, Kristiina, additional, Blomqvist, Carl, additional, Chang-Claude, Jenny, additional, Vrieling, Alina, additional, Flesch-Janys, Dieter, additional, Sinn, Hans-Peter, additional, Wang-Gohrke, Shan, additional, Nickels, Stefan, additional, Brauch, Hiltrud, additional, Ko, Yon-Dschun, additional, Fischer, Hans-Peter, additional, Schmutzler, Rita K., additional, Meindl, Alfons, additional, Bartram, Claus R., additional, Schott, Sarah, additional, Engel, Christoph, additional, Godwin, Andrew K., additional, Weaver, JoEllen, additional, Pathak, Harsh B., additional, Sharma, Priyanka, additional, Brenner, Hermann, additional, Müller, Heiko, additional, Arndt, Volker, additional, Stegmaier, Christa, additional, Miron, Penelope, additional, Yannoukakos, Drakoulis, additional, Stavropoulou, Alexandra, additional, Fountzilas, George, additional, Gogas, Helen J., additional, Swann, Ruth, additional, Dwek, Miriam, additional, Perkins, Annie, additional, Milne, Roger L., additional, Benítez, Javier, additional, Zamora, María Pilar, additional, Pérez, José Ignacio Arias, additional, Bojesen, Stig E., additional, Nielsen, Sune F., additional, Nordestgaard, Børge G., additional, Flyger, Henrik, additional, Guénel, Pascal, additional, Truong, Thérèse, additional, Menegaux, Florence, additional, Cordina-Duverger, Emilie, additional, Burwinkel, Barbara, additional, Marmé, Frederick, additional, Schneeweiss, Andreas, additional, Sohn, Christof, additional, Sawyer, Elinor, additional, Tomlinson, Ian, additional, Kerin, Michael J., additional, Peto, Julian, additional, Johnson, Nichola, additional, Fletcher, Olivia, additional, dos Santos Silva, Isabel, additional, Fasching, Peter A., additional, Beckmann, Matthias W., additional, Hartmann, Arndt, additional, Ekici, Arif B., additional, Lophatananon, Artitaya, additional, Muir, Kenneth, additional, Puttawibul, Puttisak, additional, Wiangnon, Surapon, additional, Schmidt, Marjanka K., additional, Broeks, Annegien, additional, Braaf, Linde M., additional, Rosenberg, Efraim H., additional, Hopper, John L., additional, Apicella, Carmel, additional, Park, Daniel J., additional, Southey, Melissa C., additional, Swerdlow, Anthony J., additional, Ashworth, Alan, additional, Orr, Nicholas, additional, Schoemaker, Minouk J., additional, Anton-Culver, Hoda, additional, Ziogas, Argyrios, additional, Bernstein, Leslie, additional, Dur, Christina Clarke, additional, Shen, Chen-Yang, additional, Yu, Jyh-Cherng, additional, Hsu, Huan-Ming, additional, Hsiung, Chia-Ni, additional, Hamann, Ute, additional, Dünnebier, Thomas, additional, Rüdiger, Thomas, additional, Ulmer, Hans Ulrich, additional, Pharoah, Paul P., additional, Dunning, Alison M., additional, Humphreys, Manjeet K., additional, Wang, Qin, additional, Cox, Angela, additional, Cross, Simon S., additional, Reed, Malcom W., additional, Hall, Per, additional, Czene, Kamila, additional, Ambrosone, Christine B., additional, Ademuyiwa, Foluso, additional, Hwang, Helena, additional, Eccles, Diana M., additional, Garcia-Closas, Montserrat, additional, Figueroa, Jonine D., additional, Sherman, Mark E., additional, Lissowska, Jolanta, additional, Devilee, Peter, additional, Seynaeve, Caroline, additional, Tollenaar, Rob A.E.M., additional, Hooning, Maartje J., additional, Andrulis, Irene L., additional, Knight, Julia A., additional, Glendon, Gord, additional, Mulligan, Anna Marie, additional, Winqvist, Robert, additional, Pylkäs, Katri, additional, Jukkola-Vuorinen, Arja, additional, Grip, Mervi, additional, John, Esther M., additional, Miron, Alexander, additional, Alnæs, Grethe Grenaker, additional, Kristensen, Vessela, additional, Børresen-Dale, Anne-Lise, additional, Giles, Graham G., additional, Baglietto, Laura, additional, McLean, Catriona A., additional, Severi, Gianluca, additional, Kosel, Matthew L., additional, Pankratz, V.S., additional, Slager, Susan, additional, Olson, Janet E., additional, Radice, Paolo, additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Barile, Monica, additional, Lambrechts, Diether, additional, Hatse, Sigrid, additional, Dieudonne, Anne-Sophie, additional, Christiaens, Marie-Rose, additional, Chenevix-Trench, Georgia, additional, Beesley, Jonathan, additional, Chen, Xiaoqing, additional, Mannermaa, Arto, additional, Kosma, Veli-Matti, additional, Hartikainen, Jaana M., additional, Soini, Ylermi, additional, Easton, Douglas F., additional, and Couch, Fergus J., additional

Published
2012
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14. Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer

Author

Stevens, Kristen N., primary, Vachon, Celine M., additional, Lee, Adam M., additional, Slager, Susan, additional, Lesnick, Timothy, additional, Olswold, Curtis, additional, Fasching, Peter A., additional, Miron, Penelope, additional, Eccles, Diana, additional, Carpenter, Jane E., additional, Godwin, Andrew K., additional, Ambrosone, Christine, additional, Winqvist, Robert, additional, Brauch, Hiltrud, additional, Schmidt, Marjanka K., additional, Cox, Angela, additional, Cross, Simon S., additional, Sawyer, Elinor, additional, Hartmann, Arndt, additional, Beckmann, Matthias W., additional, Schulz-Wendtland, Rüdiger, additional, Ekici, Arif B., additional, Tapper, William J., additional, Gerty, Susan M., additional, Durcan, Lorraine, additional, Graham, Nikki, additional, Hein, Rebecca, additional, Nickels, Stephan, additional, Flesch-Janys, Dieter, additional, Heinz, Judith, additional, Sinn, Hans-Peter, additional, Konstantopoulou, Irene, additional, Fostira, Florentia, additional, Pectasides, Dimitrios, additional, Dimopoulos, Athanasios M., additional, Fountzilas, George, additional, Clarke, Christine L., additional, Balleine, Rosemary, additional, Olson, Janet E., additional, Fredericksen, Zachary, additional, Diasio, Robert B., additional, Pathak, Harsh, additional, Ross, Eric, additional, Weaver, JoEllen, additional, Rüdiger, Thomas, additional, Försti, Asta, additional, Dünnebier, Thomas, additional, Ademuyiwa, Foluso, additional, Kulkarni, Swati, additional, Pylkäs, Katri, additional, Jukkola-Vuorinen, Arja, additional, Ko, Yon-Dschun, additional, Van Limbergen, Erik, additional, Janssen, Hilde, additional, Peto, Julian, additional, Fletcher, Olivia, additional, Giles, Graham G., additional, Baglietto, Laura, additional, Verhoef, Senno, additional, Tomlinson, Ian, additional, Kosma, Veli-Matti, additional, Beesley, Jonathan, additional, Greco, Dario, additional, Blomqvist, Carl, additional, Irwanto, Astrid, additional, Liu, Jianjun, additional, Blows, Fiona M., additional, Dawson, Sarah-Jane, additional, Margolin, Sara, additional, Mannermaa, Arto, additional, Martin, Nicholas G., additional, Montgomery, Grant W., additional, Lambrechts, Diether, additional, dos Santos Silva, Isabel, additional, Severi, Gianluca, additional, Hamann, Ute, additional, Pharoah, Paul, additional, Easton, Douglas F., additional, Chang-Claude, Jenny, additional, Yannoukakos, Drakoulis, additional, Nevanlinna, Heli, additional, Wang, Xianshu, additional, and Couch, Fergus J., additional

Published
2011
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15. No association of polymorphisms in the cell polarity gene SCRIB with breast cancer risk

Author

Dünnebier, Thomas, primary, Schlaefer, Klaus, additional, Gilbert, Michael, additional, Baisch, Christian, additional, Justenhoven, Christina, additional, Brauch, Hiltrud, additional, Harth, Volker, additional, Spickenheuer, Anne, additional, Rabstein, Sylvia, additional, Pesch, Beate, additional, Brüning, Thomas, additional, Ko, Yon-Dschun, additional, and Hamann, Ute, additional

Published
2010
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16. Polymorphisms in the UBC9 and PIAS3 genes of the SUMO-conjugating system and breast cancer risk

Author

Dünnebier, Thomas, primary, Bermejo, Justo Lorenzo, additional, Haas, Susanne, additional, Fischer, Hans-Peter, additional, Pierl, Christiane B., additional, Justenhoven, Christina, additional, Brauch, Hiltrud, additional, Baisch, Christian, additional, Gilbert, Michael, additional, Harth, Volker, additional, Spickenheuer, Anne, additional, Rabstein, Sylvia, additional, Pesch, Beate, additional, Brüning, Thomas, additional, Ko, Yon-Dschun, additional, and Hamann, Ute, additional

Published
2009
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17. Common variants in theUBC9gene encoding the SUMO-conjugating enzyme are associated with breast tumor grade

Author

Dünnebier, Thomas, primary, Bermejo, Justo Lorenzo, additional, Haas, Susanne, additional, Fischer, Hans-Peter, additional, Pierl, Christiane B., additional, Justenhoven, Christina, additional, Brauch, Hiltrud, additional, Baisch, Christian, additional, Gilbert, Michael, additional, Harth, Volker, additional, Spickenheuer, Anne, additional, Rabstein, Sylvia, additional, Pesch, Beate, additional, Brüning, Thomas, additional, Ko, Yon-Dschun, additional, and Hamann, Ute, additional

Published
2009
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20. Estrogen Receptor Alpha and Nuclear Factor Y Coordinately Regulate the Transcription of the SUMO-Conjugating UBC9 Gene in MCF-7 Breast Cancer Cells.

Author

Ying, Shibo, Dünnebier, Thomas, Si, Jing, and Hamann, Ute

Subjects
*ESTROGEN receptors, *GENETIC regulation, *GENETIC code, *NEOPLASTIC cell transformation, *BREAST cancer, *GENETIC transcription
Abstract

UBC9 encodes a protein that conjugates small ubiquitin-related modifier (SUMO) to target proteins thereby changing their functions. Recently, it was noted that UBC9 expression and activity play a role in breast tumorigenesis and response to anticancer drugs. However, the underlying mechanism is poorly understood. To investigate the transcriptional regulation of the UBC9 gene, we identified and characterized its promoter and cis-elements. Promoter activity was tested using luciferase reporter assays. The binding of transcription factors to the promoter was detected by chromatin immunoprecipitation (ChIP), and their functional role was confirmed by siRNA knockdown. UBC9 mRNA and protein levels were measured by quantitative reverse transcription PCR and Western blot analysis, respectively. An increased expression of UBC9 mRNA and protein was found in MCF-7 breast cancer cells treated with 17β-estradiol (E2). Analysis of various deletion mutants revealed a 137 bp fragment upstream of the transcription initiation site to be sufficient for reporter gene transcription. Mutations of putative estrogen receptor α (ER-α) (one imperfect estrogen response element, ERE) and/or nuclear factor Y (NF-Y) binding sites (two CCAAT boxes) markedly reduced promoter activity. Similar results were obtained in ER-negative MDA-MB-231 cells except that the ERE mutation did not affect promoter activity. Additionally, promoter activity was stimulated upon E2 treatment and overexpression of ER-α or NF-YA in MCF-7 cells. ChIP confirmed direct binding of both transcription factors to the UBC9 promoter in vivo. Furthermore, UBC9 expression was diminished by ER-α and NF-Y siRNAs on the mRNA and protein levels. In conclusion, we identified the proximal UBC9 promoter and provided evidence that ER-α and NF-Y regulate UBC9 expression on the transcriptional level in response to E2 in MCF-7 cells. These findings may contribute to a better understanding of the regulation of UBC9 in ER-positive breast cancer and be useful for the development of cancer therapies targeting UBC9. [ABSTRACT FROM AUTHOR]

Published
2013
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21. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.

Author

Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Edlund CK, Ekici AB, Fasching PA, Feigelson HS, Flesch-Janys D, Fostira F, Försti A, Fountzilas G, Gerty SM, Giles GG, Godwin AK, Goodfellow P, Graham N, Greco D, Hamann U, Hankinson SE, Hartmann A, Hein R, Heinz J, Holbrook A, Hoover RN, Hu JJ, Hunter DJ, Ingles SA, Irwanto A, Ivanovich J, John EM, Johnson N, Jukkola-Vuorinen A, Kaaks R, Ko YD, Kolonel LN, Konstantopoulou I, Kosma VM, Kulkarni S, Lambrechts D, Lee AM, Marchand LL, Lesnick T, Liu J, Lindstrom S, Mannermaa A, Margolin S, Martin NG, Miron P, Montgomery GW, Nevanlinna H, Nickels S, Nyante S, Olswold C, Palmer J, Pathak H, Pectasides D, Perou CM, Peto J, Pharoah PD, Pooler LC, Press MF, Pylkäs K, Rebbeck TR, Rodriguez-Gil JL, Rosenberg L, Ross E, Rüdiger T, Silva Idos S, Sawyer E, Schmidt MK, Schulz-Wendtland R, Schumacher F, Severi G, Sheng X, Signorello LB, Sinn HP, Stevens KN, Southey MC, Tapper WJ, Tomlinson I, Hogervorst FB, Wauters E, Weaver J, Wildiers H, Winqvist R, Van Den Berg D, Wan P, Xia LY, Yannoukakos D, Zheng W, Ziegler RG, Siddiq A, Slager SL, Stram DO, Easton D, Kraft P, Henderson BE, and Couch FJ

Subjects
Black or African American, Aged, Breast Neoplasms ethnology, Breast Neoplasms metabolism, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Middle Aged, Polymorphism, Single Nucleotide, Receptors, Estrogen genetics, White People, Breast Neoplasms genetics, Genetic Loci, Membrane Proteins genetics, Neoplasm Proteins genetics, Receptors, Estrogen metabolism, Telomerase genetics
Abstract

Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 × 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 × 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.

Published
2011
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22. Mechanism of regulation of the bifunctional histidine kinase NtrB in Escherichia coli.

Author

Weiss V, Kramer G, Dünnebier T, and Flotho A

Subjects
Escherichia coli genetics, Escherichia coli Proteins genetics, Escherichia coli Proteins metabolism, Nitrogen metabolism, Phosphoprotein Phosphatases genetics, Protein Kinases genetics, Escherichia coli enzymology, Gene Expression Regulation, Bacterial, Phosphoprotein Phosphatases metabolism, Protein Kinases metabolism
Abstract

NtrB is the bifunctional histidine kinase for nitrogen regulation. Dependent on the availability of nitrogen, it either autophosphorylates and serves as the phosphodonor for its cognate response regulator, NtrC, or, it promotes the rapid dephosphorylation of NtrC-P. The activity of NtrB depends on the interaction of two subdomains within its transmitter domain, the H-domain and the kinase domain. Both phosphotransfer activity and phosphatase activity reside in the H-domain. When separately expressed, this domain acts as a phosphatase. Interaction with the kinase domain results in the inhibition of the phosphatase activity and the phosphorylation of the conserved histidine of the H-domain.

Published
2002

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