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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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2. Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome

Author: Alvarez-Mora, Maria Isabel, Santos, Cristina, Carreño-Gago, Lidia, Madrigal, Irene, Tejada, Maria Isabel, Martinez, Francisco, Izquierdo-Alvarez, Silvia, Garcia-Arumi, Elena, Mila, Montserrat, and Rodriguez-Revenga, Laia
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. MECP2 Gene Study in a Large Cohort: Testing of 240 Female Patients and 861 Healthy Controls (519 Females and 342 Males)

Author: Maortua, Hiart, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Martínez, María-Jesus, Guillen, Encarna, Domingo, María-Rosario, Calvo, María-Teresa, Guitart, Miriam, Gabau, Elisabeth, Botella, María-Pilar, Gener, Blanca, Rubio, Izaskun, López-Aríztegui, María-Asunción, and Tejada, María-Isabel
Published: 2013
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7. 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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8. 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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9. Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci

Author: Rosa-Rosa, Juan Manuel, Pita, Guillermo, Urioste, Miguel, Llort, Gemma, Brunet, Joan, Lázaro, Conxi, Blanco, Ignacio, Ramón y Cajal, Teresa, Díez, Orland, de la Hoya, Miguel, Caldés, Trinidad, Tejada, Maria-Isabel, González-Neira, Anna, and Benítez, Javier
Published: 2009
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10. Screening for Female Fragile X Premutation and Full Mutation Carriers : A Commentary on the Work of Wildhagen et al.

Author: Tejada, Maria Isabel and Duran, Mercedes
Published: 1999

11. Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2

Author: Beristain, Elena, Ibáñez, Berta, Vergara, Itziar, Martínez-Bouzas, Cristina, Guerra, Isabel, and Tejada, Maria Isabel
Published: 2010
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12. A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations

Author: Martínez-Bouzas, Cristina, Beristain, Elena, Ojembarrena, Enrique, Errasti, Jose, Mujika, Karmele, Viguera, Noelia, and Tejada, Maria Isabel
Published: 2009
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13. Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

Author: Plaja, Alberto, Lloveras, Elisabet, Martinez-Bouzas, Cristina, Barreña, Beatriz, Campo, Miguel Del, Fernández, Asunción, Herrero, Marta, Barranco, Laura, Palau, Nuria, López-Aríztegui, Asunción M., Català, Vicenç, and Tejada, Maria-Isabel
Published: 2013
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14. Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

Author: Ramus, Susan J., Kartsonaki, Christiana, Gayther, Simon A., Pharoah, Paul D. P., Sinilnikova, Olga M., Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, Neuhausen, Susan L., Ding, Yuan Chun, Nathanson, Katherine L., Domchek, Susan M., Jakubowska, Anna, Lubiński, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Górski, Bohdan, Cybulski, Cezary, Dębniak, Tadeusz, Osorio, Ana, Durán, Mercedes, Tejada, Maria-Isabel, Benítez, Javier, Hamann, Ute, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst, Madeleine A., Vreeswijk, Maaike P., Bodmer, Danielle, Ausems, Margreet G. E. M., van Os, Theo A., Asperen, Christi J., Blok, Marinus J., Meijers-Heijboer, Hanne E. J., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Dunning, Alison M., Evans, D. Gareth, Eeles, Ros, Pichert, Gabriella, Cole, Trevor, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Kennedy, M. John, Rogers, Mark T., Side, Lucy E., Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Barjhoux, Laure, Bonadona, Valérie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnès, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, Buys, Saundra S., Hopper, John L., Daly, Mary B., John, Esther M., Terry, Mary Beth, Goldgar, David, Hansen, Thomas v. O., Jønson, Lars, Ejlertsen, Bent, Agnarsson, Bjarni A., Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, Dutra-Clarke, Ana V. C., Przybylo, Jennifer A., Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N., Janavicius, Ramunas, Blanco, Ignacio, Lázaro, Conxi, Moysich, Kirsten B., Karlan, Beth Y., Gross, Jenny, Beattie, Mary S., Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Ruehl, Ina, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Simard, Jacques, Soucy, Penny, Spurdle, Amanda B., Holland, Helene, Chenevix-Trench, Georgia, Easton, Douglas F., and Antoniou, Antonis C.
Published: 2011
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15. 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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16. CHEK2 1100delC is present in familial breast cancer cases of the Basque Country

Author: Martínez-Bouzas, Cristina, Beristain, Elena, Guerra, Isabel, Gorostiaga, Javier, Mendizabal, Jose-Luis, De-Pablo, Jose-Luis, García-Alegría, Eva, Sanz-Parra, Arantza, and Tejada, Maria-Isabel
Published: 2007
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17. Systematic review of pharmacological treatments in fragile X syndrome

Author: Tejada Maria-Isabel, Ballesteros Javier, and Rueda Jose-Ramon
Subjects: Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract Background Fragile X syndrome (FXS) is considered the most common cause of inherited mental retardation. Affected people have mental impairment that can include Attention Deficit and/or Hyperactivity Disorder (ADHD), autism disorder, and speech and behavioural disorders. Several pharmacological interventions have been proposed to treat those impairments. Methods Systematic review of the literature and summary of the evidence from clinical controlled trials that compared at least one pharmacological treatment with placebo or other treatment in individuals with diagnosis of FXS syndrome and assessed the efficacy and/or safety of the treatments. Studies were identified by a search of PubMed, EMBASE and the Cochrane Databases using the terms fragile X and treatment. Risk of bias of the studies was assessed by using the Cochrane Collaboration criteria. Results The search identified 276 potential articles and 14 studies satisfied inclusion criteria. Of these, 10 studies on folic acid (9 with crossover design, only 1 of them with good methodological quality and low risk of bias) did not find in general significant improvements. A small sample size trial assessed dextroamphetamine and methylphenidate in patients with an additional diagnosis of ADHD and found some improvements in those taking methylphenidate, but the length of follow-up was too short. Two studies on L-acetylcarnitine, showed positive effects and no side effects in patients with an additional diagnosis of ADHD. Finally, one study on patients with an additional diagnosis of autism assessed ampakine compound CX516 and found no significant differences between treatment and placebo. Regarding safety, none of the studies that assessed that area found relevant side effects, but the number of patients included was too small to detect side effects with low incidence. Conclusion Currently there is no robust evidence to support recommendations on pharmacological treatments in patients with FXS in general or in those with an additional diagnosis of ADHD or autism.
Published: 2009
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18. 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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19. 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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20. 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

21. Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study

Author: Merino, Sonia, primary, Ibarluzea, Nekane, additional, Maortua, Hiart, additional, Prieto, Begoña, additional, Rouco, Idoia, additional, López-Aríztegui, Maria-Asunción, additional, and Tejada, Maria-Isabel, additional
Published: 2016
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22. Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer

Author: Rubio, Izaskun, primary, Ibáñez-Feijoo, Eduardo, additional, Andrés, Leire, additional, Aguirre, Elena, additional, Balmaña, Judith, additional, Blay, Pilar, additional, Llort, Gemma, additional, González-Santiago, Santiago, additional, Maortua, Hiart, additional, Tejada, Maria Isabel, additional, and Martinez-Bouzas, Cristina, additional
Published: 2016
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23. L-acetylcarnitine for treating fragile X syndrome

Author: Rueda, José-Ramón, primary, Guillén, Virginia, additional, Ballesteros, Javier, additional, Tejada, Maria-Isabel, additional, and Solà, Ivan, additional
Published: 2015
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24. 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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25. Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

Author: Sherman, Stephanie L, primary, Curnow, Eliza C, additional, Easley, Charles A, additional, Jin, Peng, additional, Hukema, Renate K, additional, Tejada, Maria Isabel, additional, Willemsen, Rob, additional, and Usdin, Karen, additional
Published: 2014
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26. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Author: Ramus, Susan J, Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Sinilnikova, Olga M, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A, Jensen, Uffe Birk, Skytte, Anne-Bine, Caligo, Maria A, Liljegren, Annelie, Lindblom, Annika, Olsson, Håkan, Kristoffersson, Ulf, Stenmark-Askmalm, Marie, Melin, Beatrice, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowocka, Elżbieta, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Toloczko-Grabarek, Aleksandra, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Tejada, Maria-Isabel, Hamann, Ute, Rookus, Matti, van Leeuwen, Flora E, Aalfs, Cora M, Meijers-Heijboer, Hanne E J, van Asperen, Christi J, van Roozendaal, K E P, Hoogerbrugge, Nicoline, Collée, J Margriet, Kriege, Mieke, van der Luijt, Rob B, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J, Walker, Lisa, Porteous, Mary E, Kennedy, M John, Pathak, Harsh, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, Caux-Moncoutier, Virginie, de Pauw, Antoine, Gauthier-Villars, Marion, Mazoyer, Sylvie, Léoné, Mélanie, Calender, Alain, Lasset, Christine, Bonadona, Valérie, Hardouin, Agnès, Berthet, Pascaline, Bignon, Yves-Jean, Uhrhammer, Nancy, Faivre, Laurence, Loustalot, Catherine, Buys, Saundra, Daly, Mary, Miron, Alex, Terry, Mary Beth, Chung, Wendy K, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Tea, Muy-Kheng, Pfeiler, Georg, Fink-Retter, Anneliese, Hansen, Thomas v O, Ejlertsen, Bent, Johannsson, Oskar Th, Offit, Kenneth, Kirchhoff, Tomas, Gaudet, Mia M, Vijai, Joseph, Robson, Mark, Piedmonte, Marion, Phillips, Kelly-Anne, Van Le, Linda, Hoffman, James S, Ewart Toland, Amanda, Montagna, Marco, Tognazzo, Silvia, Imyanitov, Evgeny, Issacs, Claudine, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Iganacio, Tornero, Eva, Navarro, Matilde, Moysich, Kirsten B, Karlan, Beth Y, Gross, Jenny, Olah, Edith, Vaszko, Tibor, Teo, Soo-Hwang, Ganz, Patricia A, Beattie, Mary S, Dorfling, Cecelia M, van Rensburg, Elizabeth J, Diez, Orland, Kwong, Ava, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorotehea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Schäfer, Dieter, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Plante, Marie, Spurdle, Amanda B, Neuhausen, Susan L, Ding, Yuan Chun, Wang, Xianshu, Lindor, Noralane, Fredericksen, Zachary, Pankratz, V Shane, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Bonanni, Bernardo, Bernard, Loris, Dolcetti, Riccardo, Papi, Laura, Ottini, Laura, Radice, Paolo, Greene, Mark H, Mai, Phuong L, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Pharoah, Paul D P, Gayther, Simon A, Simard, Jacques, Easton, Douglas F, Couch, Fergus J, Chenevix-Trench, Georgia, Ramus, Susan J, Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Sinilnikova, Olga M, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A, Jensen, Uffe Birk, Skytte, Anne-Bine, Caligo, Maria A, Liljegren, Annelie, Lindblom, Annika, Olsson, Håkan, Kristoffersson, Ulf, Stenmark-Askmalm, Marie, Melin, Beatrice, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowocka, Elżbieta, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Toloczko-Grabarek, Aleksandra, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Tejada, Maria-Isabel, Hamann, Ute, Rookus, Matti, van Leeuwen, Flora E, Aalfs, Cora M, Meijers-Heijboer, Hanne E J, van Asperen, Christi J, van Roozendaal, K E P, Hoogerbrugge, Nicoline, Collée, J Margriet, Kriege, Mieke, van der Luijt, Rob B, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J, Walker, Lisa, Porteous, Mary E, Kennedy, M John, Pathak, Harsh, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, Caux-Moncoutier, Virginie, de Pauw, Antoine, Gauthier-Villars, Marion, Mazoyer, Sylvie, Léoné, Mélanie, Calender, Alain, Lasset, Christine, Bonadona, Valérie, Hardouin, Agnès, Berthet, Pascaline, Bignon, Yves-Jean, Uhrhammer, Nancy, Faivre, Laurence, Loustalot, Catherine, Buys, Saundra, Daly, Mary, Miron, Alex, Terry, Mary Beth, Chung, Wendy K, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Tea, Muy-Kheng, Pfeiler, Georg, Fink-Retter, Anneliese, Hansen, Thomas v O, Ejlertsen, Bent, Johannsson, Oskar Th, Offit, Kenneth, Kirchhoff, Tomas, Gaudet, Mia M, Vijai, Joseph, Robson, Mark, Piedmonte, Marion, Phillips, Kelly-Anne, Van Le, Linda, Hoffman, James S, Ewart Toland, Amanda, Montagna, Marco, Tognazzo, Silvia, Imyanitov, Evgeny, Issacs, Claudine, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Iganacio, Tornero, Eva, Navarro, Matilde, Moysich, Kirsten B, Karlan, Beth Y, Gross, Jenny, Olah, Edith, Vaszko, Tibor, Teo, Soo-Hwang, Ganz, Patricia A, Beattie, Mary S, Dorfling, Cecelia M, van Rensburg, Elizabeth J, Diez, Orland, Kwong, Ava, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Heidemann, Simone, Niederacher, Dieter, Preisler-Adams, Sabine, Gadzicki, Dorotehea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Schäfer, Dieter, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Plante, Marie, Spurdle, Amanda B, Neuhausen, Susan L, Ding, Yuan Chun, Wang, Xianshu, Lindor, Noralane, Fredericksen, Zachary, Pankratz, V Shane, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Bonanni, Bernardo, Bernard, Loris, Dolcetti, Riccardo, Papi, Laura, Ottini, Laura, Radice, Paolo, Greene, Mark H, Mai, Phuong L, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Pharoah, Paul D P, Gayther, Simon A, Simard, Jacques, Easton, Douglas F, Couch, Fergus J, and Chenevix-Trench, Georgia
Abstract: Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 × 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 × 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 × 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer.
Published: 2012
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27. Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

Author: Ramus, Susan J, Kartsonaki, Christiana, A Gayther, Simon, D P Pharoah, Paul, M Sinilnikova, Olga, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, J Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, H Greene, Mark, L Mai, Phuong, L Andrulis, Irene, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, A Kruse, Torben, Cruger, Dorthe, Birk Jensen, Uffe, Adelaide Caligo, Maria, Olsson, Hakan, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, L Neuhausen, Susan, Chun Ding, Yuan, L Nathanson, Katherine, M Domchek, Susan, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Gorski, Bohdan, Cybulski, Cezary, Debniak, Tadeusz, Osorio, Ana, Tejada, Maria-Isabel, Benitez, Javier, Hamann, Ute, A Rookus, Matti, Verhoef, Senno, A Tilanus-Linthorst, Madeleine, P Vreeswijk, Maaike, Bodmer, Danielle, G E M Ausems, Margreet, A van Os, Theo, J Asperen, Christi, J Blok, Marinus, E J Meijers-Heijboer, Hanne, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, M Dunning, Alison, Gareth Evans, D, Eeles, Ros, Cole, Trevor, Hodgson, Shirley, J Morrison, Patrick, Porteous, Mary, John Kennedy, M, T Rogers, Mark, E Side, Lucy, Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Bonadona, Valerie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnes, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, S Buys, Saundra, L Hopper, John, B Daly, Mary, M John, Esther, Beth Terry, Mary, Goldgar, David, V O Hansen, Thomas, Jonson, Lars, Ejlertsen, Bent, A Agnarsson, Bjarni, Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, V C Dutra-Clarke, Ana, A Przybylo, Jennifer, Montagna, Marco, Casella, Cinzia, N Imyanitov, Evgeny, Janavicius, Ramunas, Blanco, Ignacio, Lazaro, Conxi, B Moysich, Kirsten, Y Karlan, Beth, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, Nevanlinna, Heli, Aittomaeki, Kristiina, Simard, Jacques, Soucy, Penny, B Spurdle, Amanda, Holland, Helene, Chenevix-Trench, Georgia, F Easton, Douglas, C Antoniou, Antonis, Ramus, Susan J, Kartsonaki, Christiana, A Gayther, Simon, D P Pharoah, Paul, M Sinilnikova, Olga, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, J Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, H Greene, Mark, L Mai, Phuong, L Andrulis, Irene, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, A Kruse, Torben, Cruger, Dorthe, Birk Jensen, Uffe, Adelaide Caligo, Maria, Olsson, Hakan, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, L Neuhausen, Susan, Chun Ding, Yuan, L Nathanson, Katherine, M Domchek, Susan, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Gorski, Bohdan, Cybulski, Cezary, Debniak, Tadeusz, Osorio, Ana, Tejada, Maria-Isabel, Benitez, Javier, Hamann, Ute, A Rookus, Matti, Verhoef, Senno, A Tilanus-Linthorst, Madeleine, P Vreeswijk, Maaike, Bodmer, Danielle, G E M Ausems, Margreet, A van Os, Theo, J Asperen, Christi, J Blok, Marinus, E J Meijers-Heijboer, Hanne, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, M Dunning, Alison, Gareth Evans, D, Eeles, Ros, Cole, Trevor, Hodgson, Shirley, J Morrison, Patrick, Porteous, Mary, John Kennedy, M, T Rogers, Mark, E Side, Lucy, Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Bonadona, Valerie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnes, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, S Buys, Saundra, L Hopper, John, B Daly, Mary, M John, Esther, Beth Terry, Mary, Goldgar, David, V O Hansen, Thomas, Jonson, Lars, Ejlertsen, Bent, A Agnarsson, Bjarni, Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, V C Dutra-Clarke, Ana, A Przybylo, Jennifer, Montagna, Marco, Casella, Cinzia, N Imyanitov, Evgeny, Janavicius, Ramunas, Blanco, Ignacio, Lazaro, Conxi, B Moysich, Kirsten, Y Karlan, Beth, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, Nevanlinna, Heli, Aittomaeki, Kristiina, Simard, Jacques, Soucy, Penny, B Spurdle, Amanda, Holland, Helene, Chenevix-Trench, Georgia, F Easton, Douglas, and C Antoniou, Antonis
Abstract: Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2. Methods We genotyped rs3814113 in 10 029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided. Results The minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 x 10(-9)) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 x 10(-4)). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%. Conclusion Common genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation.
Published: 2011
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28. 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., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, and Easton, Douglas F
Abstract: The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers., SWE-BRCA collaborators: Hans Ehrencrona, Richard Rosenquist Brandell and Niklas Dahl, Institutionen för genetik och patologi, Department of Genetics and Pathology, Uppsala University Hospital
Published: 2010
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29. L-acetylcarnitine for fragile X syndrome

Author: Rueda, José-Ramón, primary, Guillén, Virginia, additional, Ballesteros, Javier, additional, Tejada, Maria-Isabel, additional, and Solà, Ivan, additional
Published: 2012
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30. Folic acid for fragile X syndrome

Author: Rueda, José-Ramón, primary, Ballesteros, Javier, additional, Guillen, Virginia, additional, Tejada, Maria-Isabel, additional, and Solà, Ivan, additional
Published: 2011
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31. Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

Author: Madrigal, Irene, primary, Xunclà, Mar, additional, Tejada, Maria Isabel, additional, Martínez, Francisco, additional, Fernández-Carvajal, Isabel, additional, Pérez-Jurado, Luís Alberto, additional, Rodriguez-Revenga, Laia, additional, and Milà, Montserrat, additional
Published: 2011
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32. 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, additional, McGuffog, Lesley, additional, Sinilnikova, Olga M., additional, Healey, Sue, additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Rebbeck, Timothy R., additional, Weitzel, Jeffrey N., additional, Lynch, Henry T., additional, Isaacs, Claudine, additional, Ganz, Patricia A., additional, Tomlinson, Gail, additional, Olopade, Olufunmilayo I., additional, Couch, Fergus J., additional, Wang, Xianshu, additional, Lindor, Noralane M., additional, Pankratz, Vernon S., additional, Radice, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Barile, Monica, additional, Viel, Alessandra, additional, Allavena, Anna, additional, Dall'Olio, Valentina, additional, Peterlongo, Paolo, additional, Szabo, Csilla I., additional, Zikan, Michal, additional, Claes, Kathleen, additional, Poppe, Bruce, additional, Foretova, Lenka, additional, Mai, Phuong L., additional, Greene, Mark H., additional, Rennert, Gad, additional, Lejbkowicz, Flavio, additional, Glendon, Gord, additional, Ozcelik, Hilmi, additional, Andrulis, Irene L., additional, Thomassen, Mads, additional, Gerdes, Anne-Marie, additional, Sunde, Lone, additional, Cruger, Dorthe, additional, Birk Jensen, Uffe, additional, Caligo, Maria, additional, Friedman, Eitan, additional, Kaufman, Bella, additional, Laitman, Yael, additional, Milgrom, Roni, additional, Dubrovsky, Maya, additional, Cohen, Shimrit, additional, Borg, Ake, additional, Jernström, Helena, additional, Lindblom, Annika, additional, Rantala, Johanna, additional, Stenmark-Askmalm, Marie, additional, Melin, Beatrice, additional, Nathanson, Kate, additional, Domchek, Susan, additional, Jakubowska, Ania, additional, Lubinski, Jan, additional, Huzarski, Tomasz, additional, Osorio, Ana, additional, Lasa, Adriana, additional, Durán, Mercedes, additional, Tejada, Maria-Isabel, additional, Godino, Javier, additional, Benitez, Javier, additional, Hamann, Ute, additional, Kriege, Mieke, additional, Hoogerbrugge, Nicoline, additional, van der Luijt, Rob B., additional, Asperen, Christi J. van, additional, Devilee, Peter, additional, Meijers-Heijboer, E.J., additional, Blok, Marinus J., additional, Aalfs, Cora M., additional, Hogervorst, Frans, additional, Rookus, Matti, additional, Cook, Margaret, additional, Oliver, Clare, additional, Frost, Debra, additional, Conroy, Don, additional, Evans, D. Gareth, additional, Lalloo, Fiona, additional, Pichert, Gabriella, additional, Davidson, Rosemarie, additional, Cole, Trevor, additional, Cook, Jackie, additional, Paterson, Joan, additional, Hodgson, Shirley, additional, Morrison, Patrick J., additional, Porteous, Mary E., additional, Walker, Lisa, additional, Kennedy, M. John, additional, Dorkins, Huw, additional, Peock, Susan, additional, Godwin, Andrew K., additional, Stoppa-Lyonnet, Dominique, additional, de Pauw, Antoine, additional, Mazoyer, Sylvie, additional, Bonadona, Valérie, additional, Lasset, Christine, additional, Dreyfus, Hélène, additional, Leroux, Dominique, additional, Hardouin, Agnès, additional, Berthet, Pascaline, additional, Faivre, Laurence, additional, Loustalot, Catherine, additional, Noguchi, Tetsuro, additional, Sobol, Hagay, additional, Rouleau, Etienne, additional, Nogues, Catherine, additional, Frénay, Marc, additional, Vénat-Bouvet, Laurence, additional, Hopper, John L., additional, Daly, Mary B., additional, Terry, Mary B., additional, John, Esther M., additional, Buys, Saundra S., additional, Yassin, Yosuf, additional, Miron, Alexander, additional, Goldgar, David, additional, Singer, Christian F., additional, Dressler, Anne Catharina, additional, Gschwantler-Kaulich, Daphne, additional, Pfeiler, Georg, additional, Hansen, Thomas V.O., additional, Jønson, Lars, additional, Agnarsson, Bjarni A., additional, Kirchhoff, Tomas, additional, Offit, Kenneth, additional, Devlin, Vincent, additional, Dutra-Clarke, Ana, additional, Piedmonte, Marion, additional, Rodriguez, Gustavo C., additional, Wakeley, Katie, additional, Boggess, John F., additional, Basil, Jack, additional, Schwartz, Peter E., additional, Blank, Stephanie V., additional, Toland, Amanda Ewart, additional, Montagna, Marco, additional, Casella, Cinzia, additional, Imyanitov, Evgeny, additional, Tihomirova, Laima, additional, Blanco, Ignacio, additional, Lazaro, Conxi, additional, Ramus, Susan J., additional, Sucheston, Lara, additional, Karlan, Beth Y., additional, Gross, Jenny, additional, Schmutzler, Rita, additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Lochmann, Magdalena, additional, Arnold, Norbert, additional, Heidemann, Simone, additional, Varon-Mateeva, Raymonda, additional, Niederacher, Dieter, additional, Sutter, Christian, additional, Deissler, Helmut, additional, Gadzicki, Dorothea, additional, Preisler-Adams, Sabine, additional, Kast, Karin, additional, Schönbuchner, Ines, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Aittomäki, Kristiina, additional, Nevanlinna, Heli, additional, Simard, Jacques, additional, Spurdle, Amanda B., additional, Holland, Helene, additional, Chen, Xiaoqing, additional, Platte, Radka, additional, Chenevix-Trench, Georgia, additional, and Easton, Douglas F., additional
Published: 2010
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33. Folic acid for fragile X syndrome

Author: Rueda, José-Ramón, primary, Ballesteros, Javier, additional, Guillen, Virginia, additional, Tejada, Maria-Isabel, additional, and Solà, Ivan, additional
Published: 2010
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34. Systematic review of pharmacological treatments in fragile X syndrome

Author: Rueda, Jose-Ramon, primary, Ballesteros, Javier, additional, and Tejada, Maria-Isabel, additional
Published: 2009
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35. Risk of cognitive impairment in female premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

Author: Mínguez, Mónica, primary, Ibáñez, Berta, additional, Ribate, Maria-Pilar, additional, Ramos, Feliciano, additional, García-Alegría, Eva, additional, Fernández-Rivas, Aránzazu, additional, Ruiz-Parra, Eduardo, additional, Poch, Marisa, additional, Alonso, Angel, additional, Martinez-Bouzas, Cristina, additional, Beristain, Elena, additional, and Tejada, Maria-Isabel, additional
Published: 2009
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36. Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome

Author: Tejada, Maria-Isabel, primary, García-Alegría, Eva, additional, Bilbao, Amaia, additional, Martínez-Bouzas, Cristina, additional, Beristain, Elena, additional, Poch, Marisa, additional, Ramos-Arroyo, Maria A., additional, López, Blanca, additional, Fernandez Carvajal, Isabel, additional, Ribate, Maria-Pilar, additional, and Ramos, Feliciano, additional
Published: 2008
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37. CHEK2 1100delC is present in familial breast cancer cases of the Basque Country

Author: Martínez-Bouzas, Cristina, primary, Beristain, Elena, additional, Guerra, Isabel, additional, Gorostiaga, Javier, additional, Mendizabal, Jose-Luis, additional, De-Pablo, Jose-Luis, additional, García-Alegría, Eva, additional, Sanz-Parra, Arantza, additional, and Tejada, Maria-Isabel, additional
Published: 2006
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38. Screening for Female Fragile X Premutation and Full Mutation Carriers

Author: Tejada, Maria Isabel, primary and Duran, Mercedes, additional
Published: 1999
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39. Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.

Author: García-Alegría, Eva, Ibáñez, Berta, Mínguez, Mónica, Poch, Marisa, Valiente, Alberto, Sanz-Parra, Arantza, Martinez-Bouzas, Cristina, Beristain, Elena, and Tejada, Maria-Isabel
Abstract: Fragile X syndrome is caused by the absence or reduction of the fragile X mental retardation protein (FMRP) because FMR1 gene expression is reduced. Alleles with repeat sizes of 55-200 are classified as premutations, and it has been demonstrated that FMR1 expression is elevated in the premutation range. However, the majority of the studies reported were performed in males. We studied FMR1 expression in 100 female fragile X family members from the northern region of Spain using quantitative (fluorescence) real-time polymerase chain reaction. Of these 100 women, 19 had normal alleles, 19 were full mutation carriers, and 62 were premutation carriers. After confirming differences between the three groups of females, and increased levels of the FMR1 transcript among premutation carriers, we found that the relationship between mRNA levels and repeat size is nonlinear. These results were obtained using a novel methodology that, based on the size of the CGG repeats, allows us to find out the most probable threshold from which the relationship between CGG repeat number and mRNA levels changes. Using this approach, a significant positive correlation between CGG repeats and total mRNA levels has been found in the premutation range <100 CGG, but this correlation diminishes from 100 onward. However, when correcting by the X inactivation ratio, mRNA levels increase as the number of CGG repeats increases, and this increase is highly significant over 100 CGG. We suggest that due to skewed X inactivation, mRNA levels tend to normalize in females when the number of CGG repeats increases.
Published: 2007
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40. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author: Noguchi, Tetsuro, Caldes, Trinidad, Caligo, Maria, Viel, Alessandra, Ramus, Susan J., Claes, Kathleen, Aalfs, Cora M., Kaufman, Bella, Friedman, Eitan, Manoukian, Siranoush, Jernström, Helena, Milgrom, Roni, Schönbuchner, Ines, Cole, Trevor, Allavena, Anna, Isaacs, Claudine, Lazaro, Conxi, Chen, Xiaoqing, Buys, Saundra S., Porteous, Mary E., Hansen, Thomas V.O., Wang, Xianshu, Hardouin, Agnès, Arnold, Norbert, Benitez, Javier, Engel, Christoph, Simard, Jacques, Cook, Jackie, Jensen, Uffe Birk, Preisler-Adams, Sabine, Rantala, Johanna, Walker, Lisa, Meindl, Alfons, Montagna, Marco, Beesley, Jonathan, Aittomäki, Kristiina, Terry, Mary B., Vénat-Bouvet, Laurence, Faivre, Laurence, Miron, Alexander, Domchek, Susan, McGuffog, Lesley, Zikan, Michal, Godino, Javier, Neuhausen, Susan L., Lindblom, Annika, Nathanson, Kate, Van Der Luijt, Rob B., Meijers-Heijboer, E. J., Hamann, Ute, Mazoyer, Sylvie, Davidson, Rosemarie, Hogervorst, Frans, Spurdle, Amanda B., Lalloo, Fiona, Rennert, Gad, Niederacher, Dieter, Zaffaroni, Daniela, Blanco, Ignacio, Wappenschmidt, Barbara, Szabo, Csilla I., Gadzicki, Dorothea, Dubrovsky, Maya, Peock, Susan, Dutra-Clarke, Ana, Ganz, Patricia A., Peterlongo, Paolo, Weitzel, Jeffrey N., Poppe, Bruce, Rodriguez, Gustavo C., Lasset, Christine, Bonadona, Valérie, Mai, Phuong L., Dorkins, Huw, Lubinski, Jan, Glendon, Gord, Holland, Helene, Frénay, Marc, Rebbeck, Timothy R., Hopper, John L., Blok, Marinus J., Offit, Kenneth, Borg, Ake, Lejbkowicz, Flavio, Devilee, Peter, Frost, Debra, Blank, Stephanie V., Kirchhoff, Tomas, Van Asperen, Christi J., Agnarsson, Bjarni A., Foretova, Lenka, Deissler, Helmut, Lindor, Noralane M., Nevanlinna, Heli, Kriege, Mieke, Toland, Amanda Ewart, Gschwantler-Kaulich, Daphne, Rouleau, Etienne, De Pauw, Antoine, Karlan, Beth Y., Goldgar, David, Oliver, Clare, Godwin, Andrew K., Olopade, Olufunmilayo I., Osorio, Ana, Easton, Douglas F., Cohen, Shimrit, Berthet, Pascaline, Tihomirova, Laima, Platte, Radka, Lasa, Adriana, Rookus, Matti, Conroy, Don, Couch, Fergus J., Loustalot, Catherine, Sobol, Hagay, Chenevix-Trench, Georgia, Piedmonte, Marion, Schwartz, Peter E., Imyanitov, Evgeny, Heidemann, Simone, Barile, Monica, Casella, Cinzia, Jnson, Lars, Laitman, Yael, Healey, Sue, Schmutzler, Rita, Cruger, Dorthe, Sunde, Lone, Ding, Yuan Chun, Nogues, Catherine, Dall'Olio, Valentina, Yassin, Yosuf, Antoniou, Antonis C., Leroux, Dominique, Sutter, Christian, Evans, D. Gareth, Huzarski, Tomasz, Daly, Mary B., Pichert, Gabriella, Lochmann, Magdalena, Kast, Karin, Gross, Jenny, Stoppa-Lyonnet, Dominique, Andrulis, Irene L., Melin, Beatrice, Dreyfus, Hélène, Stenmark-Askmalm, Marie, Gerdes, Anne Marie, Boggess, John F., Paterson, Joan, Kennedy, M. John, Thomassen, Mads, Pfeiler, Georg, Basil, Jack, Devlin, Vincent, Tejada, Maria Isabel, Hoogerbrugge, Nicoline, Cook, Margaret, De La Hoya, Miguel, Pankratz, Vernon S., Sucheston, Lara, Radice, Paolo, John, Esther M., Singer, Christian F., Peissel, Bernard, Lynch, Henry T., Varon-Mateeva, Raymonda, Hodgson, Shirley, Durán, Mercedes, Greene, Mark H., Wakeley, Katie, Sinilnikova, Olga M., Dressler, Anne Catharina, Ozcelik, Hilmi, Morrison, Patrick J., Jakubowska, Ania, and Tomlinson, Gail
Subjects: skin and connective tissue diseases, 3. Good health
Abstract: The known breast cancer (BC) susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1,LSP1 and 2q35 confer increased risks of BC for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of three additional SNPs, rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11 and rs10941679 at 5p12 and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased BC risk for BRCA2 carriers (per-allele Hazard Ratio (HR)=1.10, 95%CI:1.03-1.18, p=0.006 and HR=1.09, 95%CI:1.01-1.19, p=0.03, respectively). Neither SNP was associated with BC risk for BRCA1 carriers and rs6504950 was not associated with BC for either BRCA1 or BRCA2 carriers. Of the nine polymorphisms investigated, seven were associated with BC for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, p-values:7×10−11-0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (p=0.0049, 0.03 respectively). All risk associated polymorphisms appear to interact multiplicatively on BC risk for mutation carriers. Based on the joint genotype distribution of the seven risk associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e. between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing BC by age 80, compared with 42-50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences may be sufficient to influence the clinical management of mutation carriers.

41. 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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42. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Author: Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowocka E, Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A, Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM, Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Collée JM, Kriege M, van der Luijt RB, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D, Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Léoné M, Calender A, Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L, Loustalot C, Buys S, Daly M, Miron A, Terry MB, Chung WK, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Pfeiler G, Fink-Retter A, Hansen Tv, Ejlertsen B, Johannsson OT, Offit K, Kirchhoff T, Gaudet MM, Vijai J, Robson M, Piedmonte M, Phillips KA, Van Le L, Hoffman JS, Ewart Toland A, Montagna M, Tognazzo S, Imyanitov E, Issacs C, Janavicius R, Lazaro C, Blanco I, Tornero E, Navarro M, Moysich KB, Karlan BY, Gross J, Olah E, Vaszko T, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EJ, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Plante M, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H, Pharoah PD, Gayther SA, Simard J, Easton DF, Couch FJ, and Chenevix-Trench G
Subjects: Adult, Cohort Studies, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Middle Aged, Odds Ratio, Retrospective Studies, BRCA1 Protein genetics, BRCA2 Protein genetics, Mutation, Ovarian Neoplasms genetics, Polymorphism, Single Nucleotide
Abstract: Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 × 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 × 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 × 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer., (© 2012 Wiley Periodicals, Inc.)
Published: 2012
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