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1. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Author

Renieri, Alessandra, Dursun, Ali, Matilla-Duenas, Antoni, Cormand, Bru, Rivolta, Carlo, Ayuso, Carmen, Espinós, Carmen, Scerri, Christian, Yalnizoglu, Dilek, Soler, Doriette, Morava, Eva, Barbetti, Fabrizio, Forzano, Francesca, Mari, Francesca, Muntoni, Francesco, Tort, Frederic, Houlden, Henry James, Tejada, Maria-Isabel, Senderek, Jan, Benitez, Javier, De La Calle, Javier Corral, Serra, Jordi, Millán, José Ma, Segovia, Jose, Gimeno Blanes, Juan Ramon, Armstrong, Judith, Ozgul, Koksal, Vilarinho, Laura, Montoliu, Lluis, Posada, Manuel, Mencarelli, Maria Antonietta, Mora, Marina, Bianchi, Paola, Seeman, Pavel, Elliott, Perry M., Ferlini, Alessandra, Brice, Alexis, Wirth, Brunhilde, Hanna, Mike, Tabrizi, Sarah, Klockgether, Thomas, Timmerman, Vincent, Straub, Volker, Kurul, Semra Hiz, Oktay, Yavuz, Gungor, Serdal, Yaramis, Ahmet, Yis, Uluc, Macaya, Alfons, Ribes, Antonia, Pujol, Aurora, Lázaro, Conxi, Grinberg, Daniel, Tizzano, Eduardo, Cardellach, Francesc, Palau, Francesc, Milà, Montse, Gallano, Pia, Artuch, Rafael, MartiSeves, Ramon, Villanueva, Gonzalo, Vidal, Silvia, Garrabou, Gloria, Balcells, Susanna, Urreizti, Roser, López, Estrella, Cuscó, Ivon, Valenzuela, Irene, Sabater, Maria, Matalonga, Leslie, Laurie, Steven, Papakonstantinou, Anastasios, Piscia, Davide, Mereu, Elisabetta, Bullich, Gemma, Thompson, Rachel, Horvath, Rita, Pérez-Jurado, Luis, Riess, Olaf, Gut, Ivo, van Ommen, Gert-Jan, Lochmüller, Hanns, and Beltran, Sergi

Published
2020
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3. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Author

Rebbeck, Timothy R, Mitra, Nandita, Wan, Fei, Sinilnikova, Olga M, Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C, Nathanson, Katherine L, CIMBA Consortium, Laitman, Yael, Kushnir, Anya, Paluch-Shimon, Shani, Berger, Raanan, Zidan, Jamal, Friedman, Eitan, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Einbeigi, Zakaria, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Melin, Beatrice, Huo, Dezheng, Olopade, Olufunmilayo I, Seldon, Joyce, Ganz, Patricia A, Nussbaum, Robert L, Chan, Salina B, Odunsi, Kunle, Gayther, Simon A, Domchek, Susan M, Arun, Banu K, Lu, Karen H, Mitchell, Gillian, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Godwin, Andrew K, Pathak, Harsh, Ross, Eric, Daly, Mary B, Whittemore, Alice S, John, Esther M, Miron, Alexander, Terry, Mary Beth, Chung, Wendy K, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, Neuhausen, Susan L, Ding, Yuan Chun, Ejlertsen, Bent, Gerdes, Anne-Marie, Hansen, Thomas VO, Ramón y Cajal, Teresa, Osorio, Ana, Benitez, Javier, Godino, Javier, Tejada, Maria-Isabel, Duran, Mercedes, Weitzel, Jeffrey N, Bobolis, Kristie A, Sand, Sharon R, Fontaine, Annette, Savarese, Antonella, Pasini, Barbara, Peissel, Bernard, Bonanni, Bernardo, Zaffaroni, Daniela, Vignolo-Lutati, Francesca, Scuvera, Giulietta, Giannini, Giuseppe, Bernard, Loris, Genuardi, Maurizio, Radice, Paolo, Dolcetti, Riccardo, Manoukian, Siranoush, Pensotti, Valeria, Gismondi, Viviana, Yannoukakos, Drakoulis, Fostira, Florentia, Garber, Judy, Torres, Diana, Rashid, Muhammad Usman, Hamann, Ute, Peock, Susan, Frost, Debra, Platte, Radka, Evans, D Gareth, Eeles, Rosalind, Davidson, Rosemarie, and Eccles, Diana

Subjects
CIMBA Consortium, Humans, Breast Neoplasms, Ovarian Neoplasms, Genetic Predisposition to Disease, Nucleotides, Risk Factors, Age of Onset, Heterozygote, Mutation, Genes, BRCA1, Genes, BRCA2, Adult, Middle Aged, Female, Cancer, Prevention, Rare Diseases, Breast Cancer, Clinical Research, Ovarian Cancer, General & Internal Medicine, Medical and Health Sciences
Abstract

ImportanceLimited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.ObjectiveTo identify mutation-specific cancer risks for carriers of BRCA1/2.Design, setting, and participantsObservational study of women who were ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations. The international sample comprised 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations from 55 centers in 33 countries on 6 continents. We estimated hazard ratios for breast and ovarian cancer based on mutation type, function, and nucleotide position. We also estimated RHR, the ratio of breast vs ovarian cancer hazard ratios. A value of RHR greater than 1 indicated elevated breast cancer risk; a value of RHR less than 1 indicated elevated ovarian cancer risk.ExposuresMutations of BRCA1 or BRCA2.Main outcomes and measuresBreast and ovarian cancer risks.ResultsAmong BRCA1 mutation carriers, 9052 women (46%) were diagnosed with breast cancer, 2317 (12%) with ovarian cancer, 1041 (5%) with breast and ovarian cancer, and 7171 (37%) without cancer. Among BRCA2 mutation carriers, 6180 women (52%) were diagnosed with breast cancer, 682 (6%) with ovarian cancer, 272 (2%) with breast and ovarian cancer, and 4766 (40%) without cancer. In BRCA1, we identified 3 breast cancer cluster regions (BCCRs) located at c.179 to c.505 (BCCR1; RHR = 1.46; 95% CI, 1.22-1.74; P = 2 × 10(-6)), c.4328 to c.4945 (BCCR2; RHR = 1.34; 95% CI, 1.01-1.78; P = .04), and c. 5261 to c.5563 (BCCR2', RHR = 1.38; 95% CI, 1.22-1.55; P = 6 × 10(-9)). We also identified an ovarian cancer cluster region (OCCR) from c.1380 to c.4062 (approximately exon 11) with RHR = 0.62 (95% CI, 0.56-0.70; P = 9 × 10(-17)). In BRCA2, we observed multiple BCCRs spanning c.1 to c.596 (BCCR1; RHR = 1.71; 95% CI, 1.06-2.78; P = .03), c.772 to c.1806 (BCCR1'; RHR = 1.63; 95% CI, 1.10-2.40; P = .01), and c.7394 to c.8904 (BCCR2; RHR = 2.31; 95% CI, 1.69-3.16; P = .00002). We also identified 3 OCCRs: the first (OCCR1) spanned c.3249 to c.5681 that was adjacent to c.5946delT (6174delT; RHR = 0.51; 95% CI, 0.44-0.60; P = 6 × 10(-17)). The second OCCR spanned c.6645 to c.7471 (OCCR2; RHR = 0.57; 95% CI, 0.41-0.80; P = .001). Mutations conferring nonsense-mediated decay were associated with differential breast or ovarian cancer risks and an earlier age of breast cancer diagnosis for both BRCA1 and BRCA2 mutation carriers.Conclusions and relevanceBreast and ovarian cancer risks varied by type and location of BRCA1/2 mutations. With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of BRCA1 and BRCA2 mutations.

Published
2015

4. Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author

Antoniou, Antonis C., primary, Beesley, Jonathan, primary, McGuffog, Lesley, primary, Sinilnikova, Olga M., primary, Healey, Sue, primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Rebbeck, Timothy R., primary, Weitzel, Jeffrey N., primary, Lynch, Henry T., primary, Isaacs, Claudine, primary, Ganz, Patricia A., primary, Tomlinson, Gail, primary, Olopade, Olufunmilayo I., primary, Couch, Fergus J., primary, Wang, Xianshu, primary, Lindor, Noralane M., primary, Pankratz, Vernon S., primary, Radice, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Viel, Alessandra, primary, Allavena, Anna, primary, Dall'Olio, Valentina, primary, Peterlongo, Paolo, primary, Szabo, Csilla I., primary, Zikan, Michal, primary, Claes, Kathleen, primary, Poppe, Bruce, primary, Foretova, Lenka, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Rennert, Gad, primary, Lejbkowicz, Flavio, primary, Glendon, Gord, primary, Ozcelik, Hilmi, primary, Andrulis, Irene L., primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Sunde, Lone, primary, Cruger, Dorthe, primary, Birk Jensen, Uffe, primary, Caligo, Maria, primary, Friedman, Eitan, primary, Kaufman, Bella, primary, Laitman, Yael, primary, Milgrom, Roni, primary, Dubrovsky, Maya, primary, Cohen, Shimrit, primary, Borg, Ake, primary, Jernström, Helena, primary, Lindblom, Annika, primary, Rantala, Johanna, primary, Stenmark-Askmalm, Marie, primary, Melin, Beatrice, primary, Nathanson, Kate, primary, Domchek, Susan, primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Huzarski, Tomasz, primary, Osorio, Ana, primary, Lasa, Adriana, primary, Durán, Mercedes, primary, Tejada, Maria-Isabel, primary, Godino, Javier, primary, Benitez, Javier, primary, Hamann, Ute, primary, Kriege, Mieke, primary, Hoogerbrugge, Nicoline, primary, van der Luijt, Rob B., primary, Asperen, Christi J. van, primary, Devilee, Peter, primary, Meijers-Heijboer, E.J., primary, Blok, Marinus J., primary, Aalfs, Cora M., primary, Hogervorst, Frans, primary, Rookus, Matti, primary, Cook, Margaret, primary, Oliver, Clare, primary, Frost, Debra, primary, Conroy, Don, primary, Evans, D. Gareth, primary, Lalloo, Fiona, primary, Pichert, Gabriella, primary, Davidson, Rosemarie, primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Hodgson, Shirley, primary, Morrison, Patrick J., primary, Porteous, Mary E., primary, Walker, Lisa, primary, Kennedy, M. John, primary, Dorkins, Huw, primary, Peock, Susan, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, de Pauw, Antoine, primary, Mazoyer, Sylvie, primary, Bonadona, Valérie, primary, Lasset, Christine, primary, Dreyfus, Hélène, primary, Leroux, Dominique, primary, Hardouin, Agnès, primary, Berthet, Pascaline, primary, Faivre, Laurence, primary, Loustalot, Catherine, primary, Noguchi, Tetsuro, primary, Sobol, Hagay, primary, Rouleau, Etienne, primary, Nogues, Catherine, primary, Frénay, Marc, primary, Vénat-Bouvet, Laurence, primary, Hopper, John L., primary, Daly, Mary B., primary, Terry, Mary B., primary, John, Esther M., primary, Buys, Saundra S., primary, Yassin, Yosuf, primary, Miron, Alexander, primary, Goldgar, David, primary, Singer, Christian F., primary, Dressler, Anne Catharina, primary, Gschwantler-Kaulich, Daphne, primary, Pfeiler, Georg, primary, Hansen, Thomas V.O., primary, Jønson, Lars, primary, Agnarsson, Bjarni A., primary, Kirchhoff, Tomas, primary, Offit, Kenneth, primary, Devlin, Vincent, primary, Dutra-Clarke, Ana, primary, Piedmonte, Marion, primary, Rodriguez, Gustavo C., primary, Wakeley, Katie, primary, Boggess, John F., primary, Basil, Jack, primary, Schwartz, Peter E., primary, Blank, Stephanie V., primary, Toland, Amanda Ewart, primary, Montagna, Marco, primary, Casella, Cinzia, primary, Imyanitov, Evgeny, primary, Tihomirova, Laima, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Ramus, Susan J., primary, Sucheston, Lara, primary, Karlan, Beth Y., primary, Gross, Jenny, primary, Schmutzler, Rita, primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Lochmann, Magdalena, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Varon-Mateeva, Raymonda, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Dorothea, primary, Preisler-Adams, Sabine, primary, Kast, Karin, primary, Schönbuchner, Ines, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Aittomäki, Kristiina, primary, Nevanlinna, Heli, primary, Simard, Jacques, primary, Spurdle, Amanda B., primary, Holland, Helene, primary, Chen, Xiaoqing, primary, Platte, Radka, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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5. Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author

Antoniou, Antonis C., primary, Beesley, Jonathan, primary, McGuffog, Lesley, primary, Sinilnikova, Olga M., primary, Healey, Sue, primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Rebbeck, Timothy R., primary, Weitzel, Jeffrey N., primary, Lynch, Henry T., primary, Isaacs, Claudine, primary, Ganz, Patricia A., primary, Tomlinson, Gail, primary, Olopade, Olufunmilayo I., primary, Couch, Fergus J., primary, Wang, Xianshu, primary, Lindor, Noralane M., primary, Pankratz, Vernon S., primary, Radice, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Viel, Alessandra, primary, Allavena, Anna, primary, Dall'Olio, Valentina, primary, Peterlongo, Paolo, primary, Szabo, Csilla I., primary, Zikan, Michal, primary, Claes, Kathleen, primary, Poppe, Bruce, primary, Foretova, Lenka, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Rennert, Gad, primary, Lejbkowicz, Flavio, primary, Glendon, Gord, primary, Ozcelik, Hilmi, primary, Andrulis, Irene L., primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Sunde, Lone, primary, Cruger, Dorthe, primary, Birk Jensen, Uffe, primary, Caligo, Maria, primary, Friedman, Eitan, primary, Kaufman, Bella, primary, Laitman, Yael, primary, Milgrom, Roni, primary, Dubrovsky, Maya, primary, Cohen, Shimrit, primary, Borg, Ake, primary, Jernström, Helena, primary, Lindblom, Annika, primary, Rantala, Johanna, primary, Stenmark-Askmalm, Marie, primary, Melin, Beatrice, primary, Nathanson, Kate, primary, Domchek, Susan, primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Huzarski, Tomasz, primary, Osorio, Ana, primary, Lasa, Adriana, primary, Durán, Mercedes, primary, Tejada, Maria-Isabel, primary, Godino, Javier, primary, Benitez, Javier, primary, Hamann, Ute, primary, Kriege, Mieke, primary, Hoogerbrugge, Nicoline, primary, van der Luijt, Rob B., primary, Asperen, Christi J. van, primary, Devilee, Peter, primary, Meijers-Heijboer, E.J., primary, Blok, Marinus J., primary, Aalfs, Cora M., primary, Hogervorst, Frans, primary, Rookus, Matti, primary, Cook, Margaret, primary, Oliver, Clare, primary, Frost, Debra, primary, Conroy, Don, primary, Evans, D. Gareth, primary, Lalloo, Fiona, primary, Pichert, Gabriella, primary, Davidson, Rosemarie, primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Hodgson, Shirley, primary, Morrison, Patrick J., primary, Porteous, Mary E., primary, Walker, Lisa, primary, Kennedy, M. John, primary, Dorkins, Huw, primary, Peock, Susan, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, de Pauw, Antoine, primary, Mazoyer, Sylvie, primary, Bonadona, Valérie, primary, Lasset, Christine, primary, Dreyfus, Hélène, primary, Leroux, Dominique, primary, Hardouin, Agnès, primary, Berthet, Pascaline, primary, Faivre, Laurence, primary, Loustalot, Catherine, primary, Noguchi, Tetsuro, primary, Sobol, Hagay, primary, Rouleau, Etienne, primary, Nogues, Catherine, primary, Frénay, Marc, primary, Vénat-Bouvet, Laurence, primary, Hopper, John L., primary, Daly, Mary B., primary, Terry, Mary B., primary, John, Esther M., primary, Buys, Saundra S., primary, Yassin, Yosuf, primary, Miron, Alexander, primary, Goldgar, David, primary, Singer, Christian F., primary, Dressler, Anne Catharina, primary, Gschwantler-Kaulich, Daphne, primary, Pfeiler, Georg, primary, Hansen, Thomas V.O., primary, Jønson, Lars, primary, Agnarsson, Bjarni A., primary, Kirchhoff, Tomas, primary, Offit, Kenneth, primary, Devlin, Vincent, primary, Dutra-Clarke, Ana, primary, Piedmonte, Marion, primary, Rodriguez, Gustavo C., primary, Wakeley, Katie, primary, Boggess, John F., primary, Basil, Jack, primary, Schwartz, Peter E., primary, Blank, Stephanie V., primary, Toland, Amanda Ewart, primary, Montagna, Marco, primary, Casella, Cinzia, primary, Imyanitov, Evgeny, primary, Tihomirova, Laima, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Ramus, Susan J., primary, Sucheston, Lara, primary, Karlan, Beth Y., primary, Gross, Jenny, primary, Schmutzler, Rita, primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Lochmann, Magdalena, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Varon-Mateeva, Raymonda, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Dorothea, primary, Preisler-Adams, Sabine, primary, Kast, Karin, primary, Schönbuchner, Ines, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Aittomäki, Kristiina, primary, Nevanlinna, Heli, primary, Simard, Jacques, primary, Spurdle, Amanda B., primary, Holland, Helene, primary, Chen, Xiaoqing, primary, Platte, Radka, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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6. Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Author

Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, and von Bernuth, Horst

Published
2015
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7. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Author

Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, and Raymond, Lucy F.

Published
2015
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8. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Author

Matalonga, Leslie, primary, Laurie, Steven, additional, Papakonstantinou, Anastasios, additional, Piscia, Davide, additional, Mereu, Elisabetta, additional, Bullich, Gemma, additional, Thompson, Rachel, additional, Horvath, Rita, additional, Pérez-Jurado, Luis, additional, Riess, Olaf, additional, Gut, Ivo, additional, van Ommen, Gert-Jan, additional, Lochmüller, Hanns, additional, Beltran, Sergi, additional, Renieri, Alessandra, additional, Dursun, Ali, additional, Matilla-Duenas, Antoni, additional, Cormand, Bru, additional, Rivolta, Carlo, additional, Ayuso, Carmen, additional, Espinós, Carmen, additional, Scerri, Christian, additional, Yalnizoglu, Dilek, additional, Soler, Doriette, additional, Morava, Eva, additional, Barbetti, Fabrizio, additional, Forzano, Francesca, additional, Mari, Francesca, additional, Muntoni, Francesco, additional, Tort, Frederic, additional, Houlden, Henry James, additional, Tejada, Maria-Isabel, additional, Senderek, Jan, additional, Benitez, Javier, additional, De La Calle, Javier Corral, additional, Serra, Jordi, additional, Millán, José Ma, additional, Segovia, Jose, additional, Gimeno Blanes, Juan Ramon, additional, Armstrong, Judith, additional, Ozgul, Koksal, additional, Vilarinho, Laura, additional, Montoliu, Lluis, additional, Posada, Manuel, additional, Mencarelli, Maria Antonietta, additional, Mora, Marina, additional, Bianchi, Paola, additional, Seeman, Pavel, additional, Elliott, Perry M., additional, Ferlini, Alessandra, additional, Brice, Alexis, additional, Wirth, Brunhilde, additional, Hanna, Mike, additional, Tabrizi, Sarah, additional, Klockgether, Thomas, additional, Timmerman, Vincent, additional, Straub, Volker, additional, Kurul, Semra Hiz, additional, Oktay, Yavuz, additional, Gungor, Serdal, additional, Yaramis, Ahmet, additional, Yis, Uluc, additional, Macaya, Alfons, additional, Ribes, Antonia, additional, Pujol, Aurora, additional, Lázaro, Conxi, additional, Grinberg, Daniel, additional, Tizzano, Eduardo, additional, Cardellach, Francesc, additional, Palau, Francesc, additional, Milà, Montse, additional, Gallano, Pia, additional, Artuch, Rafael, additional, MartiSeves, Ramon, additional, Villanueva, Gonzalo, additional, Vidal, Silvia, additional, Garrabou, Gloria, additional, Balcells, Susanna, additional, Urreizti, Roser, additional, López, Estrella, additional, Cuscó, Ivon, additional, Valenzuela, Irene, additional, and Sabater, Maria, additional

Published
2020
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9. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Author

Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Abctctb, Investigators, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittom, Kristiina Äki, Fares, Al Ejeh, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G.M., Azzollini, Jacopo, François, Bacot, Balma, Judith Nã, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Anne-Lise, Børresen Dale, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brigitte, Bressac De Paillerets, Brewer, Carole, Brinton, Louise, Broberg, Per, Angela, Brooks Wilson, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Cald, Trinidad És, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban, Castelao, Castera, Laurent, Virginie, Caux Moncoutier, Chan, Salina B., Jenny, Chang Claude, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, J. M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, Leeneer, Kim De L., Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garciá-Saénz, José A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Grenaker, Grethe Alnæs I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler, Daphne Kaulich, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Mac Hteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Lænkholm, Anne Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Marchand, Loic Le, Lindström, Sara, Al-Ejeh, Fares, Margreet, G. M.Ausems, Bacot, François, Børresen-Dale, Anne Lise, Bressac-De, Brigitte Paillerets, Brooks-Wilson, Angela, Castelao, J. Esteban, Caux-Moncoutier, Virginie, Chang-Claude, Jenny, McLaes, Kathleen B., Leeneer, Kim De, Dieter, Flesch Janys, Gschwantler-Kaulich, Daphne, Keupers, MacHteld, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Won, Jong Lee, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Siranoush, Manoukian, Manson, Joann E., Margolin, Sara, Martens, John W., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Børge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai Ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria Isabel, Tengström, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teul, Alex E., Thöne, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A.M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans Ulrich, Vachon, Celine, Christi, Van Asperen J., Den Berg, David Van, Ouweland, Ans M.Vanden, Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garciá-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., Simard, Jacques, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Medical Oncology, Internal Medicine, Obstetrics & Gynecology, MUMC+: DA KG Lab Centraal Lab (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine

Subjects
0301 basic medicine, Oncology, Estrogen receptor, Genome-wide association study, consortium, Gene mutation, DISEASE, Breast cancer, Risk Factors, Receptors, common variants, BRCA2 MUTATION CARRIERS, Medicine and Health Sciences, CONFER SUSCEPTIBILITY, skin and connective tissue diseases, ovarian cancers, BRCA1 Protein, COMMON VARIANTS, Single Nucleotide, OVARIAN CANCERS, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Receptors, Estrogen, functional variants, Female, estrogen receptor, SNPs, EXPRESSION, medicine.medical_specialty, Heterozygote, SUSCEPTIBILITY LOCI, European Continental Ancestry Group, Breast cancer, estrogen receptor, SNPs, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, White People, Article, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, expression, medicine, Genetic predisposition, Genetics, Journal Article, Humans, Genetic Predisposition to Disease, ddc:610, Risk factor, Polymorphism, GENOME-WIDE ASSOCIATION, FUNCTIONAL VARIANTS, disease, CONSORTIUM, Case-control study, Biology and Life Sciences, medicine.disease, confer susceptibility, Estrogen, susceptibility loci, 030104 developmental biology, Mutation, genome-wide association, brca2 mutation carriers, Genome-Wide Association Study
Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10−8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

Published
2017
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10. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Author

Milne, Roger L, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindström, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K, McGuffog, Lesley, Wang, Qin, Aalfs, Cora M, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomäki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B, Amos, Christopher I, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Auber, Bernd, Auer, Paul L, Ausems, Margreet G E M, Azzollini, Jacopo, Bacot, François, Balmaña, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B, Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R, Blok, Marinus J, Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byun, Jinyoung, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D, Castelao, J Esteban, Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B M, Clarke, Christine L, Conner, Thomas, Conroy, Don M, Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G, Cross, Simon S, Cuk, Katarina, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre-Antoine, Dumont, Martine, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A, Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Sáenz, José A, Gaudet, Mia M, Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Goodfellow, Paul, Greene, Mark H, Alnæs, Grethe I Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V O, Harrington, Patricia, Hart, Steven N, Hartikainen, Jaana M, Healey, Catherine S, Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Bob, Hopper, John L, Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Hunter, David J, Imyanitov, Evgeny N, Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M, Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J, Kets, Carolien M, Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kim, Sung-Won, Knight, Julia A, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N, Kruse, Torben A, Kwong, Ava, Lænkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T, Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J, Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E, Manoukian, Siranoush, Manson, JoAnn E, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Nussbaum, Robert L, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Olswold, Curtis, Ong, Kai-Ren, Oosterwijk, Jan C, Orr, Nick, Osorio, Ana, Pankratz, V Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I A, Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C, Romero, Atocha, Romm, Jane, Rookus, Matti A, Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Daniel F, Schoemaker, Minouk J, Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J, Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J, Shu, Xiao-Ou, Side, Lucy E, Singer, Christian F, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla M, Tan, Yen Y, Taylor, Jack A, Tejada, Maria-Isabel, Tengström, Maria, Teo, Soo H, Terry, Mary B, Tessier, Daniel C, Teulé, Alex, Thöne, Kathrin, Thull, Darcy L, Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob A E M, Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J, Van Den Berg, David, van den Ouweland, Ans M W, van Rensburg, Elizabeth J, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S, Wijnen, Juul T, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Xia, Lucy, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K, Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R, Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K, Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K, Droit, Arnaud, Bader, Gary D, Pharoah, Paul D P, Couch, Fergus J, Easton, Douglas F, Kraft, Peter, Chenevix-Trench, Georgia, García-Closas, Montserrat, Schmidt, Marjanka K, Antoniou, Antonis C, Simard, Jacques, Milne, Roger L, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindström, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K, McGuffog, Lesley, Wang, Qin, Aalfs, Cora M, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomäki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B, Amos, Christopher I, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Auber, Bernd, Auer, Paul L, Ausems, Margreet G E M, Azzollini, Jacopo, Bacot, François, Balmaña, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B, Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R, Blok, Marinus J, Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byun, Jinyoung, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D, Castelao, J Esteban, Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B M, Clarke, Christine L, Conner, Thomas, Conroy, Don M, Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G, Cross, Simon S, Cuk, Katarina, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre-Antoine, Dumont, Martine, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A, Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Sáenz, José A, Gaudet, Mia M, Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Goodfellow, Paul, Greene, Mark H, Alnæs, Grethe I Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V O, Harrington, Patricia, Hart, Steven N, Hartikainen, Jaana M, Healey, Catherine S, Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Bob, Hopper, John L, Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Hunter, David J, Imyanitov, Evgeny N, Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M, Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J, Kets, Carolien M, Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kim, Sung-Won, Knight, Julia A, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N, Kruse, Torben A, Kwong, Ava, Lænkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T, Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J, Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E, Manoukian, Siranoush, Manson, JoAnn E, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Nussbaum, Robert L, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Olswold, Curtis, Ong, Kai-Ren, Oosterwijk, Jan C, Orr, Nick, Osorio, Ana, Pankratz, V Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I A, Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C, Romero, Atocha, Romm, Jane, Rookus, Matti A, Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Daniel F, Schoemaker, Minouk J, Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J, Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J, Shu, Xiao-Ou, Side, Lucy E, Singer, Christian F, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla M, Tan, Yen Y, Taylor, Jack A, Tejada, Maria-Isabel, Tengström, Maria, Teo, Soo H, Terry, Mary B, Tessier, Daniel C, Teulé, Alex, Thöne, Kathrin, Thull, Darcy L, Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob A E M, Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J, Van Den Berg, David, van den Ouweland, Ans M W, van Rensburg, Elizabeth J, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S, Wijnen, Juul T, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Xia, Lucy, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K, Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R, Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K, Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K, Droit, Arnaud, Bader, Gary D, Pharoah, Paul D P, Couch, Fergus J, Easton, Douglas F, Kraft, Peter, Chenevix-Trench, Georgia, García-Closas, Montserrat, Schmidt, Marjanka K, Antoniou, Antonis C, and Simard, Jacques

Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

Published
2017
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11. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Author

Schönewolf-Greulich, Bitten, Tejada, Maria-Isabel, Stephens, K, Hadzsiev, K, Gauthier, J, Brøndum-Nielsen, Karen, Pfundt, R, Ravn, Kirstine Johanne Theresia, Maortua, H, Gener, B, Martínez-Bouzas, C, Piton, A, Rouleau, G, Clayton-Smith, J, Kleefstra, T, Bisgaard, Anne-Marie, Tümer, Zeynep, Schönewolf-Greulich, Bitten, Tejada, Maria-Isabel, Stephens, K, Hadzsiev, K, Gauthier, J, Brøndum-Nielsen, Karen, Pfundt, R, Ravn, Kirstine Johanne Theresia, Maortua, H, Gener, B, Martínez-Bouzas, C, Piton, A, Rouleau, G, Clayton-Smith, J, Kleefstra, T, Bisgaard, Anne-Marie, and Tümer, Zeynep

Abstract

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues.

Published
2016

15. Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer

Author

Rebbeck, Timothy R., primary, Mitra, Nandita, additional, Wan, Fei, additional, Sinilnikova, Olga M., additional, Healey, Sue, additional, McGuffog, Lesley, additional, Mazoyer, Sylvie, additional, Chenevix-Trench, Georgia, additional, Easton, Douglas F., additional, Antoniou, Antonis C., additional, Nathanson, Katherine L., additional, Laitman, Yael, additional, Kushnir, Anya, additional, Paluch-Shimon, Shani, additional, Berger, Raanan, additional, Zidan, Jamal, additional, Friedman, Eitan, additional, Ehrencrona, Hans, additional, Stenmark-Askmalm, Marie, additional, Einbeigi, Zakaria, additional, Loman, Niklas, additional, Harbst, Katja, additional, Rantala, Johanna, additional, Melin, Beatrice, additional, Huo, Dezheng, additional, Olopade, Olufunmilayo I., additional, Seldon, Joyce, additional, Ganz, Patricia A., additional, Nussbaum, Robert L., additional, Chan, Salina B., additional, Odunsi, Kunle, additional, Gayther, Simon A., additional, Domchek, Susan M., additional, Arun, Banu K., additional, Lu, Karen H., additional, Mitchell, Gillian, additional, Karlan, Beth Y., additional, Walsh, Christine, additional, Lester, Jenny, additional, Godwin, Andrew K., additional, Pathak, Harsh, additional, Ross, Eric, additional, Daly, Mary B., additional, Whittemore, Alice S., additional, John, Esther M., additional, Miron, Alexander, additional, Terry, Mary Beth, additional, Chung, Wendy K., additional, Goldgar, David E., additional, Buys, Saundra S., additional, Janavicius, Ramunas, additional, Tihomirova, Laima, additional, Tung, Nadine, additional, Dorfling, Cecilia M., additional, van Rensburg, Elizabeth J., additional, Steele, Linda, additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Ejlertsen, Bent, additional, Gerdes, Anne-Marie, additional, Hansen, Thomas v. O., additional, Ramón y Cajal, Teresa, additional, Osorio, Ana, additional, Benitez, Javier, additional, Godino, Javier, additional, Tejada, Maria-Isabel, additional, Duran, Mercedes, additional, Weitzel, Jeffrey N., additional, Bobolis, Kristie A, additional, Sand, Sharon R., additional, Fontaine, Annette, additional, Savarese, Antonella, additional, Pasini, Barbara, additional, Peissel, Bernard, additional, Bonanni, Bernardo, additional, Zaffaroni, Daniela, additional, Vignolo-Lutati, Francesca, additional, Scuvera, Giulietta, additional, Giannini, Giuseppe, additional, Bernard, Loris, additional, Genuardi, Maurizio, additional, Radice, Paolo, additional, Dolcetti, Riccardo, additional, Manoukian, Siranoush, additional, Pensotti, Valeria, additional, Gismondi, Viviana, additional, Yannoukakos, Drakoulis, additional, Fostira, Florentia, additional, Garber, Judy, additional, Torres, Diana, additional, Rashid, Muhammad Usman, additional, Hamann, Ute, additional, Peock, Susan, additional, Frost, Debra, additional, Platte, Radka, additional, Evans, D. Gareth, additional, Eeles, Rosalind, additional, Davidson, Rosemarie, additional, Eccles, Diana, additional, Cole, Trevor, additional, Cook, Jackie, additional, Brewer, Carole, additional, Hodgson, Shirley, additional, Morrison, Patrick J., additional, Walker, Lisa, additional, Porteous, Mary E., additional, Kennedy, M. John, additional, Izatt, Louise, additional, Adlard, Julian, additional, Donaldson, Alan, additional, Ellis, Steve, additional, Sharma, Priyanka, additional, Schmutzler, Rita Katharina, additional, Wappenschmidt, Barbara, additional, Becker, Alexandra, additional, Rhiem, Kerstin, additional, Hahnen, Eric, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Engert, Stefanie, additional, Ditsch, Nina, additional, Arnold, Norbert, additional, Plendl, Hans Jörg, additional, Mundhenke, Christoph, additional, Niederacher, Dieter, additional, Fleisch, Markus, additional, Sutter, Christian, additional, Bartram, C. R., additional, Dikow, Nicola, additional, Wang-Gohrke, Shan, additional, Gadzicki, Dorothea, additional, Steinemann, Doris, additional, Kast, Karin, additional, Beer, Marit, additional, Varon-Mateeva, Raymonda, additional, Gehrig, Andrea, additional, Weber, Bernhard H., additional, Stoppa-Lyonnet, Dominique, additional, Houdayer, Claude, additional, Belotti, Muriel, additional, Gauthier-Villars, Marion, additional, Damiola, Francesca, additional, Boutry-Kryza, Nadia, additional, Lasset, Christine, additional, Sobol, Hagay, additional, Peyrat, Jean-Philippe, additional, Muller, Danièle, additional, Fricker, Jean-Pierre, additional, Collonge-Rame, Marie-Agnès, additional, Mortemousque, Isabelle, additional, Nogues, Catherine, additional, Rouleau, Etienne, additional, Isaacs, Claudine, additional, De Paepe, Anne, additional, Poppe, Bruce, additional, Claes, Kathleen, additional, De Leeneer, Kim, additional, Piedmonte, Marion, additional, Rodriguez, Gustavo, additional, Wakely, Katie, additional, Boggess, John, additional, Blank, Stephanie V., additional, Basil, Jack, additional, Azodi, Masoud, additional, Phillips, Kelly-Anne, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Romero, Atocha, additional, Nevanlinna, Heli, additional, Aittomäki, Kristiina, additional, van der Hout, Annemarie H., additional, Hogervorst, Frans B. L., additional, Verhoef, Senno, additional, Collée, J. Margriet, additional, Seynaeve, Caroline, additional, Oosterwijk, Jan C., additional, Gille, Johannes J. P., additional, Wijnen, Juul T., additional, Garcia, Encarna B. Gómez, additional, Kets, Carolien M., additional, Ausems, Margreet G. E. M., additional, Aalfs, Cora M., additional, Devilee, Peter, additional, Mensenkamp, Arjen R., additional, Kwong, Ava, additional, Olah, Edith, additional, Papp, Janos, additional, Diez, Orland, additional, Lazaro, Conxi, additional, Darder, Esther, additional, Blanco, Ignacio, additional, Salinas, Mónica, additional, Jakubowska, Anna, additional, Lubinski, Jan, additional, Gronwald, Jacek, additional, Jaworska-Bieniek, Katarzyna, additional, Durda, Katarzyna, additional, Sukiennicki, Grzegorz, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Cybulski, Cezary, additional, Toloczko-Grabarek, Aleksandra, additional, Zlowocka-Perlowska, Elzbieta, additional, Menkiszak, Janusz, additional, Arason, Adalgeir, additional, Barkardottir, Rosa B., additional, Simard, Jacques, additional, Laframboise, Rachel, additional, Montagna, Marco, additional, Agata, Simona, additional, Alducci, Elisa, additional, Peixoto, Ana, additional, Teixeira, Manuel R., additional, Spurdle, Amanda B., additional, Lee, Min Hyuk, additional, Park, Sue K., additional, Kim, Sung-Won, additional, Friebel, Tara M., additional, Couch, Fergus J., additional, Lindor, Noralane M., additional, Pankratz, Vernon S., additional, Guidugli, Lucia, additional, Wang, Xianshu, additional, Tischkowitz, Marc, additional, Foretova, Lenka, additional, Vijai, Joseph, additional, Offit, Kenneth, additional, Robson, Mark, additional, Rau-Murthy, Rohini, additional, Kauff, Noah, additional, Fink-Retter, Anneliese, additional, Singer, Christian F., additional, Rappaport, Christine, additional, Gschwantler-Kaulich, Daphne, additional, Pfeiler, Georg, additional, Tea, Muy-Kheng, additional, Berger, Andreas, additional, Greene, Mark H., additional, Mai, Phuong L., additional, Imyanitov, Evgeny N., additional, Toland, Amanda Ewart, additional, Senter, Leigha, additional, Bojesen, Anders, additional, Pedersen, Inge Sokilde, additional, Skytte, Anne-Bine, additional, Sunde, Lone, additional, Thomassen, Mads, additional, Moeller, Sanne Traasdahl, additional, Kruse, Torben A., additional, Jensen, Uffe Birk, additional, Caligo, Maria Adelaide, additional, Aretini, Paolo, additional, Teo, Soo-Hwang, additional, Selkirk, Christina G., additional, Hulick, Peter J., additional, and Andrulis, Irene, additional

Published
2015
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16. Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Author

Shoumo Bhattacharya, Olivera Spasic-Boskovic, Charles E. Schwartz, Catherine Cosgrove, Kathryn Friend, Keren J. Carss, F. Lucy Raymond, Roger E. Stevenson, Anna Hackett, Eric Haan, Zaamin B. Hussain, Matthew E. Hurles, Michael Field, Detelina Grozeva, James A B Floyd, Jozef Gecz, Maria-Isabel Tejada, Jamie Bentham, Mark A. Corbett, Bernard Keavney, Elizabeth Thompson, Marie Shaw, Alessandra Renieri, Cambridge Institute for Medical Research (CIMR), University of Cambridge [UK] (CAM), Department of Haematology, Hospital Universitario Cruces = Cruces University Hospital, University of Adelaide, Women’s and Children’s Hospital [Adelaide], Università degli Studi di Siena = University of Siena (UNISI), The Greenwood Genetic Center, Grozeva, Detelina, Carss, Keren, Spasic Boskovic, Olivera, Tejada, Maria Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charle, Floyd, James A. B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy, and Franco, Brunella

Subjects
Male, Proband, Developmental delay, Intellectual disability, Mendelian disease, Next-generation sequencing, Genetics, Genetics (clinical), Sequence analysis, Alleles, Cohort Studies, Computational Biology, Female, Humans, Inheritance Patterns, Intellectual Disability, Mutation, Polymorphism, Single Nucleotide, Genetic Association Studies, High-Throughput Nucleotide Sequencing, next‐generation sequencing, Biology, Bioinformatics, DNA sequencing, Genetic, medicine, Missense mutation, Polymorphism, Allele, developmental delay, intellectual disability, next-generation sequencing, Research Articles, ATRX, Single Nucleotide, medicine.disease, Settore MED/03 - Genetica Medica, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, CUL4B, Research Article
Abstract

International audience; To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or candidate ID-associated genes using targeted next-generation sequencing. Likely pathogenic rare variants were found in ß11% of the cases (113 variants in 107/986 individuals: ß8% of the individuals had a likely pathogenic loss-of-function [LoF] variant, whereas ß3% had a known pathogenic missense variant). Variants in SETD5, ATRX, CUL4B, MECP2, and ARID1B were the most common causes of ID. This study assessed the value of sequencing a cohort of probands to provide a molecular diagnosis of ID, without the availability of DNA from both parents for de novo sequence analysis. This modeling is clinically relevant as 28% of all UK families with dependent children are single parent households. In conclusion, to diagnose patients with ID in the absence of parental DNA, we recommend investigation of all LoF variants in known genes that cause ID and assessment of a limited list of proven pathogenic missense variants in these genes. This will provide 11% additional diagnostic yield beyond the 10%–15% yield from array CGH alone.

Published
2015
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