Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

por Granados-Riveron, Javier T, Pope, Mark, Bu'Lock, Frances A, Thornborough, Christopher, Eason, Jacqueline, Setchfield, Kerry, Ketley, Ami, Kirk, Edwin P, Fatkin, Diane, Feneley, Michael P, Harvey, Richard P, Brook, J David
Publicado 2012

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

por Evers, Jochem M.G., Laskowski, Roman A., Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A., Kingston, Helen, Kini, Usha, Lampe, Anne K., Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J., Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M., Wright, Caroline F.
Publicado 2017

Prostate Cancer Risks for Male BRCA1 [Image: see text] and BRCA2 Mutation Carriers: A Prospective Cohort Study()

por Nyberg, Tommy, Frost, Debra, Barrowdale, Daniel, Evans, D. Gareth, Bancroft, Elizabeth, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela F., Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Gregory, Helen, Henderson, Alex, Izatt, Louise, Kennedy, M. John, Miller, Claire, Morrison, Patrick J., Murray, Alex, Ong, Kai-Ren, Porteous, Mary, Pottinger, Caroline, Rogers, Mark T., Side, Lucy, Snape, Katie, Walker, Lisa, Tischkowitz, Marc, Eeles, Rosalind, Easton, Douglas F., Antoniou, Antonis C.
Publicado 2020

Prostate Cancer Risk by BRCA2 Genomic Regions

por Nyberg, Tommy, Frost, Debra, Barrowdale, Daniel, Evans, D. Gareth, Bancroft, Elizabeth, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela F., Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Gregory, Helen, Henderson, Alex, Izatt, Louise, Kennedy, M. John, Miller, Claire, Morrison, Patrick J., Murray, Alex, Ong, Kai-Ren, Porteous, Mary, Pottinger, Caroline, Rogers, Mark T., Side, Lucy, Snape, Katie, Tripathi, Vishakha, Walker, Lisa, Tischkowitz, Marc, Eeles, Rosalind, Easton, Douglas F., Antoniou, Antonis C.
Publicado 2020

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

por Girardi, Fabio, Barnes, Daniel R, Barrowdale, Daniel, Frost, Debra, Brady, Angela F, Miller, Claire, Henderson, Alex, Donaldson, Alan, Murray, Alex, Brewer, Carole, Pottinger, Caroline, Evans, D Gareth, Eccles, Diana, Lalloo, Fiona, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai Ren, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Tischkowitz, Marc, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Eeles, Ros, Davidson, Rosemarie, Snape, Katie, Easton, Douglas F, Antoniou, Antonis C
Publicado 2018

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

por Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Publicado 2017

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

por Bernkopf, Marie, Abdullah, Ummi B., Bush, Stephen J., Wood, Katherine A., Ghaffari, Sahar, Giannoulatou, Eleni, Koelling, Nils, Maher, Geoffrey J., Thibaut, Loïc M., Williams, Jonathan, Blair, Edward M., Kelly, Fiona Blanco, Bloss, Angela, Burkitt-Wright, Emma, Canham, Natalie, Deng, Alexander T., Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Gardham, Alice, Hay, Eleanor, Holder, Muriel, Homfray, Tessa, Hurst, Jane A., Johnson, Diana, Jones, Wendy D., Kini, Usha, Kivuva, Emma, Kumar, Ajith, Lees, Melissa M., Leitch, Harry G., Morton, Jenny E. V., Németh, Andrea H., Ramachandrappa, Shwetha, Saunders, Katherine, Shears, Deborah J., Side, Lucy, Splitt, Miranda, Stewart, Alison, Stewart, Helen, Suri, Mohnish, Clouston, Penny, Davies, Robert W., Wilkie, Andrew O. M., Goriely, Anne
Publicado 2023

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

por Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., Littlejohn, Rebecca O., Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander P.A., Kant, Sarina G., McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid M.A., Douzgou, Sofia, Wall, Steven A., Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J., Twigg, Stephen R.F., Mathijssen, Irene M.J., Nellaker, Christoffer, Brunner, Han G., Wilkie, Andrew O.M.
Publicado 2018

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

por Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R., Neuhausen, Susan L., Hopper, John L., Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T., Andrulis, Irene L., Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S., Caputo, Sandrine M., Chung, Wendy K., Colas, Chrystelle, Colonna, Sarah V., Cook, Jackie, Daly, Mary B., de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Fehm, Tanja N., Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E., Golmard, Lisa, Greene, Mark H., Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M., Karlan, Beth Y., Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K., Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K., Senter, Leigha, Shariff, Saba, Singer, Christian F., Southey, Melissa C., Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Vega, Ana, Wagner, Sebastian A., Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Spurdle, Amanda B., Easton, Douglas F., Chenevix-Trench, Georgia, Ottini, Laura, Antoniou, Antonis C.
Publicado 2022

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

por Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segrè, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B. L., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Overeem Hansen, Thomas V., Nielsen, Finn C., Greene, Mark I., Mai, Phuong L., Osorio, Ana, Durán, Mercedes, Andres, Raquel, Benítez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth
Publicado 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

por Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segrè, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B. L., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Overeem Hansen, Thomas V., Nielsen, Finn C., Greene, Mark H., Mai, Phuong L., Osorio, Ana, Durán, Mercedes, Andres, Raquel, Benítez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth
Publicado 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

por Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segrè, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B. L., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Overeem Hansen, Thomas V., Nielsen, Finn C., Greene, Mark I., Mai, Phuong L., Osorio, Ana, Durán, Mercedes, Andres, Raquel, Benítez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth
Publicado 2010

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

por Qian, Frank, Rookus, Matti A., Leslie, Goska, Risch, Harvey A., Greene, Mark H., Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Ausems, Margreet G. E. M., Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Białkowska, Katarzyna, Bonadona, Valérie, Borde, Julika, Borg, Ake, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collée, J. Margriet, Collonge-Rame, Marie-Agnès, Couch, Fergus J., Daly, Mary B., Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dorfling, Cecilia M., Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K., Gómez Garcia, Encarna B., Hamann, Ute, Hauke, Jan, Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M., Karlan, Beth Y., Kets, Carolien M., Laitman, Yael, Lázaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Łukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M., Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Nehoray, Bita, Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C., Ottini, Laura, Parsons, Michael T., Peterlongo, Paolo, Pfeiler, Georg, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C., Salani, Ritu, Scheuner, Maren T., Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Simard, Jacques, Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tung, Nadine, van Asperen, Christi J., van Engelen, Klaartje, van Rensburg, Elizabeth J., Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitzel, Jeffrey N., Yannoukakos, Drakoulis, Antoniou, Antonis C., Goldgar, David E., Olopade, Olufunmilayo I., Chenevix-Trench, Georgia, Rebbeck, Timothy R., Huo, Dezheng
Publicado 2019

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

por Barnes, Daniel R, Silvestri, Valentina, Leslie, Goska, McGuffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Brady, Angela F, Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Cini, Giulia, Claes, Kathleen B M, Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V O, Hanson, Helen, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Izquierdo, Angel, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Johannsson, Oskar Th, John, Esther M, Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A, Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernández, Adria, Mai, Phuong L, Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N, Mebirouk, Noura, Meindl, Alfons, Montagna, Marco, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Murray, Alex, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nguyen-Dumont, Tu, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth H, Pinto, Pedro, Porteous, Mary E, Pottinger, Caroline, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Rønlund, Karina, Rump, Andreas, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Singer, Christian F, Stadler, Zsofia, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, Tripathi, Vishakha, Valentini, Virginia, van Asperen, Christi J, Venturelli, Marta, Viel, Alessandra, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Whaite, Anna, Zanna, Ines, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J, Schmutzler, Rita K, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Ottini, Laura
Publicado 2021

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

por Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Walker, Logan C.
Publicado 2022

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of B...

por Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas vO, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Muñoz-Repeto, Iván, Durán, Mercedes, Godino, Javier, Pertesi, Maroulio, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez García, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine MA, van der Luijt, Rob B, Os, Theo van, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew K, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schäfer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, François, Mazoyer, Sylvie, Léoné, Mélanie, Boutry-Kryza, Nadia, Hardouin, Agnès, Berthet, Pascaline, Muller, Danièle, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomäki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, Barkardottir, Rosa B, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, D'Andrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, Olopade, Olufunmilayo I, Weitzel, Jeffrey N, Lynch, Henry T, Ganz, Patricia A, Tomlinson, Gail E, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, Singer, Christian F, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Mai, Phuong L, Greene, Mark H, Imyanitov, Evgeny, O'Malley, Frances P, Ozcelik, Hilmi, Glendon, Gordon, Toland, Amanda E, Gerdes, Anne-Marie, Thomassen, Mads, Kruse, Torben A, Jensen, Uffe Birk, Skytte, Anne-Bine, Caligo, Maria A, Soller, Maria, Henriksson, Karin, Wachenfeldt, von Anna, Arver, Brita, Stenmark-Askmalm, Marie, Karlsson, Per, Ding, Yuan Chun, Neuhausen, Susan L, Beattie, Mary, Pharoah, Paul DP, Moysich, Kirsten B, Nathanson, Katherine L, Karlan, Beth Y, Gross, Jenny, John, Esther M, Daly, Mary B, Buys, Saundra M, Southey, Melissa C, Hopper, John L, Terry, Mary Beth, Chung, Wendy, Miron, Alexander F, Goldgar, David, Chenevix-Trench, Georgia, Easton, Douglas F, Andrulis, Irene L, Antoniou, Antonis C
Publicado 2011

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

por Couch, Fergus J., Wang, Xianshu, McGuffog, Lesley, Lee, Andrew, Olswold, Curtis, Kuchenbaecker, Karoline B., Soucy, Penny, Fredericksen, Zachary, Barrowdale, Daniel, Dennis, Joe, Gaudet, Mia M., Dicks, Ed, Kosel, Matthew, Healey, Sue, Sinilnikova, Olga M., Lee, Adam, Bacot, François, Vincent, Daniel, Hogervorst, Frans B. L., Peock, Susan, Stoppa-Lyonnet, Dominique, Jakubowska, Anna, Investigators, kConFab, Radice, Paolo, Schmutzler, Rita Katharina, Domchek, Susan M., Piedmonte, Marion, Singer, Christian F., Friedman, Eitan, Thomassen, Mads, Hansen, Thomas V. O., Neuhausen, Susan L., Szabo, Csilla I., Blanco, Ignacio, Greene, Mark H., Karlan, Beth Y., Garber, Judy, Phelan, Catherine M., Weitzel, Jeffrey N., Montagna, Marco, Olah, Edith, Andrulis, Irene L., Godwin, Andrew K., Yannoukakos, Drakoulis, Goldgar, David E., Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, Terry, Mary Beth, Daly, Mary B., van Rensburg, Elizabeth J., Hamann, Ute, Ramus, Susan J., Ewart Toland, Amanda, Caligo, Maria A., Olopade, Olufunmilayo I., Tung, Nadine, Claes, Kathleen, Beattie, Mary S., Southey, Melissa C., Imyanitov, Evgeny N., Tischkowitz, Marc, Janavicius, Ramunas, John, Esther M., Kwong, Ava, Diez, Orland, Balmaña, Judith, Barkardottir, Rosa B., Arun, Banu K., Rennert, Gad, Teo, Soo-Hwang, Ganz, Patricia A., Campbell, Ian, van der Hout, Annemarie H., van Deurzen, Carolien H. M., Seynaeve, Caroline, Gómez Garcia, Encarna B., van Leeuwen, Flora E., Meijers-Heijboer, Hanne E. J., Gille, Johannes J. P., Ausems, Margreet G. E. M., Blok, Marinus J., Ligtenberg, Marjolijn J. L., Rookus, Matti A., Devilee, Peter, Verhoef, Senno, van Os, Theo A. M., Wijnen, Juul T., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Izatt, Louise, Eeles, Rosalind A., Adlard, Julian, Eccles, Diana M., Cook, Jackie, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley, Morrison, Patrick J., Side, Lucy E., Donaldson, Alan, Houghton, Catherine, Rogers, Mark T., Dorkins, Huw, Eason, Jacqueline, Gregory, Helen, McCann, Emma, Murray, Alex, Calender, Alain, Hardouin, Agnès, Berthet, Pascaline, Delnatte, Capucine, Nogues, Catherine, Lasset, Christine, Houdayer, Claude, Leroux, Dominique, Rouleau, Etienne, Prieur, Fabienne, Damiola, Francesca, Sobol, Hagay, Coupier, Isabelle, Venat-Bouvet, Laurence, Castera, Laurent, Gauthier-Villars, Marion, Léoné, Mélanie, Pujol, Pascal, Mazoyer, Sylvie, Bignon, Yves-Jean, Złowocka-Perłowska, Elżbieta, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska, Katarzyna, Huzarski, Tomasz, Spurdle, Amanda B., Viel, Alessandra, Peissel, Bernard, Bonanni, Bernardo, Melloni, Giulia, Ottini, Laura, Papi, Laura, Varesco, Liliana, Tibiletti, Maria Grazia, Peterlongo, Paolo, Volorio, Sara, Manoukian, Siranoush, Pensotti, Valeria, Arnold, Norbert, Engel, Christoph, Deissler, Helmut, Gadzicki, Dorothea, Gehrig, Andrea, Kast, Karin, Rhiem, Kerstin, Meindl, Alfons, Niederacher, Dieter, Ditsch, Nina, Plendl, Hansjoerg, Preisler-Adams, Sabine, Engert, Stefanie, Sutter, Christian, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Weber, Bernhard H. F., Arver, Brita, Stenmark-Askmalm, Marie, Loman, Niklas, Rosenquist, Richard, Einbeigi, Zakaria, Nathanson, Katherine L., Rebbeck, Timothy R., Blank, Stephanie V., Cohn, David E., Rodriguez, Gustavo C., Small, Laurie, Friedlander, Michael, Bae-Jump, Victoria L., Fink-Retter, Anneliese, Rappaport, Christine, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Lindor, Noralane M., Kaufman, Bella, Shimon Paluch, Shani, Laitman, Yael, Skytte, Anne-Bine, Gerdes, Anne-Marie, Pedersen, Inge Sokilde, Moeller, Sanne Traasdahl, Kruse, Torben A., Jensen, Uffe Birk, Vijai, Joseph, Sarrel, Kara, Robson, Mark, Kauff, Noah, Mulligan, Anna Marie, Glendon, Gord, Ozcelik, Hilmi, Ejlertsen, Bent, Nielsen, Finn C., Jønson, Lars, Andersen, Mette K., Ding, Yuan Chun, Steele, Linda, Foretova, Lenka, Teulé, Alex, Lazaro, Conxi, Brunet, Joan, Pujana, Miquel Angel, Mai, Phuong L., Loud, Jennifer T., Walsh, Christine, Lester, Jenny, Orsulic, Sandra, Narod, Steven A., Herzog, Josef, Sand, Sharon R., Tognazzo, Silvia, Agata, Simona, Vaszko, Tibor, Weaver, Joellen, Stavropoulou, Alexandra V., Buys, Saundra S., Romero, Atocha, de la Hoya, Miguel, Aittomäki, Kristiina, Muranen, Taru A., Duran, Mercedes, Chung, Wendy K., Lasa, Adriana, Dorfling, Cecilia M., Miron, Alexander, Benitez, Javier, Senter, Leigha, Huo, Dezheng, Chan, Salina B., Sokolenko, Anna P., Chiquette, Jocelyne, Tihomirova, Laima, Friebel, Tara M., Agnarsson, Bjarni A., Lu, Karen H., Lejbkowicz, Flavio, James, Paul A., Hall, Per, Dunning, Alison M., Tessier, Daniel, Cunningham, Julie, Slager, Susan L., Wang, Chen, Hart, Steven, Stevens, Kristen, Simard, Jacques, Pastinen, Tomi, Pankratz, Vernon S., Offit, Kenneth, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C.
Publicado 2013