GENE-08. SCHWANNOMATOSIS SCHWANNOMAS HARBOR DISTINCT DNA METHYLATION PROFILES

od Mansouri, Sheila, Paganini, Irene, Karimi, Shirin, Suppiah, Suganth, Mamatjan, Yasin, Singh, Olivia, Stemmer-Rachamimov, Anat, Papi, Laura, Aldape, Kenneth, Zadeh, Gelareh
Wydane w Neuro Oncol (2018)

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

od Contini, Elisa, Paganini, Irene, Sestini, Roberta, Candita, Luisa, Capone, Gabriele Lorenzo, Barbetti, Lorenzo, Falconi, Serena, Frusconi, Sabrina, Giotti, Irene, Giuliani, Costanza, Torricelli, Francesca, Benelli, Matteo, Papi, Laura
Wydane w PLoS One (2015)

Expanding the mutational spectrum of LZTR1 in schwannomatosis

od Paganini, Irene, Chang, Vivian Y, Capone, Gabriele L, Vitte, Jeremie, Benelli, Matteo, Barbetti, Lorenzo, Sestini, Roberta, Trevisson, Eva, Hulsebos, Theo JM, Giovannini, Marco, Nelson, Stanley F, Papi, Laura
Wydane w Eur J Hum Genet (2015)

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

od Aretz, Stefan, Tricarico, Rossella, Papi, Laura, Spier, Isabel, Pin, Elisa, Horpaopan, Sukanya, Cordisco, Emanuela Lucci, Pedroni, Monica, Stienen, Dietlinde, Gentile, Annamaria, Panza, Anna, Piepoli, Ada, de Leon, Maurizio Ponz, Friedl, Waltraut, Viel, Alessandra, Genuardi, Maurizio
Wydane 2014

Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1

od Caleca, Laura, Putignano, Anna Laura, Colombo, Mara, Congregati, Caterina, Sarkar, Mohosin, Magliery, Thomas J., Ripamonti, Carla B., Foglia, Claudia, Peissel, Bernard, Zaffaroni, Daniela, Manoukian, Siranoush, Tondini, Carlo, Barile, Monica, Pensotti, Valeria, Bernard, Loris, Papi, Laura, Radice, Paolo
Wydane 2014

Update From the 2011 International Schwannomatosis Workshop: From Genetics to Diagnostic Criteria

od Plotkin, Scott R., Blakeley, Jaishri O., Evans, D. Gareth, Hanemann, C. Oliver, Hulsebos, Theo J.M., Hunter-Schaedle, Kim, Kalpana, Ganjam V., Korf, Bruce, Messiaen, Ludwine, Papi, Laura, Ratner, Nancy, Sherman, Larry S., Smith, Miriam J., Stemmer-Rachamimov, Anat O., Vitte, Jeremie, Giovannini, Marco
Wydane 2013

EPCO-04. GENOMIC AND EPIGENOMIC HALLMARKS OF SCHWANNOMATOSIS SCHWANNOMAS

od Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeff, Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Robert, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott, Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor, Aldape, Kenneth, Papi, Laura, Zadeh, Gelareh
Wydane w Neuro Oncol (2020)

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

od Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeffrey C., Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Roberta, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott R., Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor J., Aldape, Kenneth D., Papi, Laura, Zadeh, Gelareh
Wydane w Acta Neuropathol (2020)

Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

od Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeffrey C., Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Roberta, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott R., Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor J., Aldape, Kenneth D., Papi, Laura, Zadeh, Gelareh
Wydane w Acta Neuropathol (2020)

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

od Figlioli, Gisella, Kvist, Anders, Tham, Emma, Soukupova, Jana, Kleiblova, Petra, Muranen, Taru A, Andrieu, Nadine, Azzollini, Jacopo, Balmaña, Judith, Barroso, Alicia, Benítez, Javier, Bertelsen, Birgitte, Blanco, Ana, Bonanni, Bernardo, Borg, Åke, Brunet, Joan, Calistri, Daniele, Calvello, Mariarosaria, Chvojka, Stepan, Cortesi, Laura, Darder, Esther, Del Valle, Jesús, Diez, Orland, Consortium, ENIGMA, Eon-Marchais, Séverine, Fostira, Florentia, Gensini, Francesca, Houdayer, Claude, Janatova, Marketa, Kiiski, Johanna I, Konstantopoulou, Irene, Kubelka-Sabit, Katerina, Lázaro, Conxi, Lesueur, Fabienne, Manoukian, Siranoush, Marcinkute, Ruta, Mickys, Ugnius, Moncoutier, Virginie, Myszka, Aleksander, Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Norvilas, Rimvydas, Olah, Edith, Osorio, Ana, Papi, Laura, Peissel, Bernard, Peixoto, Ana, Plaseska-Karanfilska, Dijana, Pócza, Timea, Rossing, Maria, Rudaitis, Vilius, Santamariña, Marta, Santos, Catarina, Smichkoska, Snezhana, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Teixeira, Manuel, Törngren, Therese, Toss, Angela, Urioste, Miguel, Vega, Ana, Vlckova, Zdenka, Yannoukakos, Drakoulis, Zampiga, Valentina, Kleibl, Zdenek, Radice, Paolo, Nevanlinna, Heli, Ehrencrona, Hans, Janavicius, Ramunas, Peterlongo, Paolo
Wydane w Cancers (Basel) (2020)

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

od Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Puppa, Lara Della, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia, Silvestri, Valentina, Rizzolo, Piera, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana, Tommasi, Stefania, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra, Varesco, Liliana, Couch, Fergus J., Wang, Xianshu, Devilee, Peter, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra, Montagna, Marco, Cortesi, Laura, Diez, Orland, Balmaña, Judith, Hauke, Jan, Schmutzler, Rita K., Papi, Laura, Pujana, Miguel Angel, Lázaro, Conxi, Falanga, Anna, Offit, Kenneth, Vijai, Joseph, Campbell, Ian, Burwinkel, Barbara, Kvist, Anders, Ehrencrona, Hans, Mazoyer, Sylvie, Pizzamiglio, Sara, Verderio, Paolo, Surralles, Jordi, Rogan, Peter K., Radice, Paolo
Wydane w Hum Mol Genet (2015)

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

od Anderson, Carl A., Boucher, Gabrielle, Lees, Charlie W., Franke, Andre, D’Amato, Mauro, Taylor, Kent D., Lee, James C., Goyette, Philippe, Imielinski, Marcin, Latiano, Anna, Lagacé, Caroline, Scott, Regan, Amininejad, Leila, Bumpstead, Suzannah, Baidoo, Leonard, Baldassano, Robert N., Barclay, Murray, Bayless, Theodore M., Brand, Stephan, Büning, Carsten, Colombel, Jean-Frédéric, Denson, Lee A., De Vos, Martine, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Fehrmann, Rudolf S.N., Floyd, James A.B., Florin, Tim, Franchimont, Denis, Franke, Lude, Georges, Michel, Glas, Jürgen, Glazer, Nicole L., Guthery, Stephen L., Haritunians, Talin, Hayward, Nicholas K., Hugot, Jean-Pierre, Jobin, Gilles, Laukens, Debby, Lawrance, Ian, Lémann, Marc, Levine, Arie, Libioulle, Cecile, Louis, Edouard, McGovern, Dermot P., Milla, Monica, Montgomery, Grant W., Morley, Katherine I., Mowat, Craig, Ng, Aylwin, Newman, William, Ophoff, Roel A, Papi, Laura, Palmieri, Orazio, Peyrin-Biroulet, Laurent, Panés, Julián, Phillips, Anne, Prescott, Natalie J., Proctor, Deborah D., Roberts, Rebecca, Russell, Richard, Rutgeerts, Paul, Sanderson, Jeremy, Sans, Miquel, Schumm, Philip, Seibold, Frank, Sharma, Yashoda, Simms, Lisa, Seielstad, Mark, Steinhart, A. Hillary, Targan, Stephan R., van den Berg, Leonard H., Vatn, Morten, Verspaget, Hein, Walters, Thomas, Wijmenga, Cisca, Wilson, David C., Westra, Harm-Jan, Xavier, Ramnik J., Zhao, Zhen Z., Ponsioen, Cyriel Y., Andersen, Vibeke, Torkvist, Leif, Gazouli, Maria, Anagnou, Nicholas P., Karlsen, Tom H., Kupcinskas, Limas, Sventoraityte, Jurgita, Mansfield, John C., Kugathasan, Subra, Silverberg, Mark S., Halfvarson, Jonas, Rotter, Jerome I., Mathew, Christopher G., Griffiths, Anne M., Gearry, Richard, Ahmad, Tariq, Brant, Steven R., Chamaillard, Mathias, Satsangi, Jack, Cho, Judy H., Schreiber, Stefan, Daly, Mark J., Barrett, Jeffrey C., Parkes, Miles, Annese, Vito, Hakonarson, Hakon, Radford-Smith, Graham, Duerr, Richard H., Vermeire, Séverine, Weersma, Rinse K., Rioux, John D.
Wydane 2011

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

od Silvestri, Valentina, Leslie, Goska, Barnes, Daniel R., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Barkardottir, Rosa B., Barroso, Alicia, Barrowdale, Daniel, Benitez, Javier, Bonanni, Bernardo, Borg, Ake, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Capalbo, Carlo, Campbell, Ian, Chung, Wendy K., Claes, Kathleen B.M., Colonna, Sarah V., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, Diez, Orland, Ding, Yuan Chun, Domchek, Susan, Easton, Douglas F., Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Feliubadalò, Lidia, Foretova, Lenka, Fostira, Florentia, Géczi, Lajos, Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hogervorst, Frans B.L., Hopper, John L., Hulick, Peter J., Isaacs, Claudine, Izquierdo, Angel, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Konstantopoulou, Irene, Kurian, Allison W., Kwong, Ava, Landucci, Elisabetta, Lesueur, Fabienne, Loud, Jennifer T., Machackova, Eva, Mai, Phuong L., Majidzadeh-A, Keivan, Manoukian, Siranoush, Montagna, Marco, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L., Nevanlinna, Heli, Ngeow Yuen Ye, Joanne, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Papi, Laura, Park, Sue K., Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H., Pinto, Pedro, Porfirio, Berardino, Pujana, Miquel Angel, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rosenzweig, Barak, Rossing, Maria, Santamariña, Marta, Schmutzler, Rita K., Senter, Leigha, Simard, Jacques, Singer, Christian F., Solano, Angela R., Southey, Melissa C., Steele, Linda, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo H., Terry, Mary Beth, Thomassen, Mads, Toland, Amanda E., Torres-Esquius, Sara, Tung, Nadine, van Asperen, Christi J., Vega, Ana, Viel, Alessandra, Vierstraete, Jeroen, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yoon, Sook-Yee, Zorn, Kristin K., McGuffog, Lesley, Parsons, Michael T., Hamann, Ute, Greene, Mark H., Kirk, Judy A., Neuhausen, Susan L., Rebbeck, Timothy R., Tischkowitz, Marc, Chenevix-Trench, Georgia, Antoniou, Antonis C., Friedman, Eitan, Ottini, Laura
Wydane w JAMA Oncol (2020)

Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

od 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., Antoniou, Antonis C.
Wydane 2011

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

od Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L., Fox, Stephen, Karlan, Beth Y., Mitchell, Gillian, James, Paul, Thull, Darcy L., Zorn, Kristin K., Carter, Natalie J., Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Ramus, Susan J., Nussbaum, Robert L., Olopade, Olufunmilayo I., Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A., Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L., Glendon, Gord, Hulick, Peter J., Imyanitov, Evgeny N., Greene, Mark H., Mai, Phuong L., Singer, Christian F., Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J., Hallberg, Emily, Ruddy, Kathryn J., Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel R., Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B., Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen B. M., Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K., Evans, D. Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey N., Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas V. O., Steele, Linda, Ding, Yuan Chun, Tung, Nadine, Janavicius, Ramunas, Goldgar, David E., Buys, Saundra S., Daly, Mary B., Bane, Anita, Terry, Mary Beth, John, Esther M., Southey, Melissa, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Ottini, Laura
Wydane w Breast Cancer Res (2016)

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

od Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M, Caligo, Maria A, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per, Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B, van Os , Theo A, Verhoef, Senno, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez Garcia, Encarna B, Ligtenberg, Marjolijn J, Kriege, Mieke, Collée, J Margriet, Ausems, Margreet GEM, Oosterwijk, Jan C, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J, Walker, Lisa, Rogers, Mark T, Donaldson, Alan, Dorkins, Huw, Godwin, Andrew K, Bove, Betsy, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Buecher, Bruno, de Pauw, Antoine, Mazoyer, Sylvie, Calender, Alain, Léoné, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Sobol, Hagay, Frenay, Marc, Prieur, Fabienne, Ferrer, Sandra Fert, Mortemousque, Isabelle, Buys, Saundra, Daly, Mary, Miron, Alexander, Terry, Mary Beth, Hopper, John L, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Fink-Retter, Anneliese, Tea, Muy-Kheng, Kaulich, Daphne Geschwantler, Hansen, Thomas VO, Nielsen, Finn C, Barkardottir, Rosa B, Gaudet, Mia, Kirchhoff, Tomas, Joseph, Vijai, Dutra-Clarke, Ana, Offit, Kenneth, Piedmonte, Marion, Kirk, Judy, Cohn, David, Hurteau, Jean, Byron, John, Fiorica, James, Toland, Amanda E, Montagna, Marco, Oliani, Cristina, Imyanitov, Evgeny, Isaacs, Claudine, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Teulé, Alex, Valle, J Del, Gayther, Simon A, Odunsi, Kunle, Gross, Jenny, Karlan, Beth Y, Olah, Edith, Teo, Soo-Hwang, Ganz, Patricia A, Beattie, Mary S, Dorfling, Cecelia M, van Rensburg, Elizabeth Jansen, 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, Dorothea, Varon-Mateeva, Raymonda, Deissler, Helmut, Gehrig, Andrea, Sutter, Christian, Kast, Karin, Fiebig, Britta, Schäfer, Dieter, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Muranen, Taru A, Lespérance, Bernard, Spurdle, Amanda B, Neuhausen, Susan L, Ding, Yuan C, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Bonanni, Bernardo, Bernard, Loris, Dolcetti, Riccardo, Papi, Laura, Ottini, Laura, Radice, Paolo, Greene, Mark H, Loud, Jennifer T, Andrulis, Irene L, Ozcelik, Hilmi, Mulligan, Anna Marie, Glendon, Gord, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe B, Skytte, Anne-Bine, Kruse, Torben A, Chenevix-Trench, Georgia, Couch, Fergus J, Simard, Jacques, Easton, Douglas F
Wydane 2012

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer...

od Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B., Pastinen, Tomi, Droit, Arnaud, Lemaçon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J., Bobolis, Kristie, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caligo, Maria A., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Daly, Mary B., Damiola, Francesca, Davidson, Rosemarie, De la Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, Engel, Christoph, Gareth Evans, D., Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Hays, John L., Hogervorst, Frans B. L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y., Kets, Carolien M., Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maïté, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T., Manoukian, Siranoush, Mariani, Milena, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Oosterwijk, Jan C., Osorio, Ana, Papi, Laura, Park, Sue Kyung, Pedersen, Inge Sokilde, Peissel, Bernard, Segura, Pedro Perez, Peterlongo, Paolo, Phelan, Catherine M., Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rookus, Matti A., Schmutzler, Rita Katharina, Sevenet, Nicolas, Shah, Payal D., Singer, Christian F., Slavin, Thomas P., Snape, Katie, Sokolowska, Johanna, Sønderstrup, Ida Marie Heeholm, Southey, Melissa, Spurdle, Amanda B., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Tan, Yen, Tea, Muy-Kheng, Teixeira, Manuel R., Teulé, Alex, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tung, Nadine, van den Ouweland, Ans M. W., van der Luijt, Rob B., van Engelen, Klaartje, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wijnen, Juul T., Rebbeck, Timothy, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J., Nord, Silje, Easton, Douglas F., Antoniou, Antonis C., Simard, Jacques
Wydane w Breast Cancer Res Treat (2016)

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

od Kuchenbaecker, Karoline B., McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Soucy, Penny, Healey, Sue, Dennis, Joe, Lush, Michael, Robson, Mark, Spurdle, Amanda B., Ramus, Susan J., Mavaddat, Nasim, Terry, Mary Beth, Neuhausen, Susan L., Hamann, Ute, Southey, Melissa, John, Esther M., Chung, Wendy K., Daly, Mary B., Buys, Saundra S., Goldgar, David E., Dorfling, Cecilia M., van Rensburg, Elizabeth J., Ding, Yuan Chun, Ejlertsen, Bent, Gerdes, Anne-Marie, Hansen, Thomas V. O., Slager, Susan, Hallberg, Emily, Benitez, Javier, Osorio, Ana, Cohen, Nancy, Lawler, William, Weitzel, Jeffrey N., Peterlongo, Paolo, Pensotti, Valeria, Dolcetti, Riccardo, Barile, Monica, Bonanni, Bernardo, Azzollini, Jacopo, Manoukian, Siranoush, Peissel, Bernard, Radice, Paolo, Savarese, Antonella, Papi, Laura, Giannini, Giuseppe, Fostira, Florentia, Konstantopoulou, Irene, Adlard, Julian, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Eccles, Diana, Eeles, Ros, Ellis, Steve, Frost, Debra, Hodgson, Shirley, Izatt, Louise, Lalloo, Fiona, Ong, Kai-ren, Godwin, Andrew K., Arnold, Norbert, Dworniczak, Bernd, Engel, Christoph, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Kast, Karin, Meindl, Alfons, Niederacher, Dieter, Schmutzler, Rita Katharina, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Barjhoux, Laure, Collonge-Rame, Marie-Agnès, Elan, Camille, Golmard, Lisa, Barouk-Simonet, Emmanuelle, Lesueur, Fabienne, Mazoyer, Sylvie, Sokolowska, Joanna, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Claes, Kathleen B. M., Poppe, Bruce, de la Hoya, Miguel, Garcia-Barberan, Vanesa, Aittomäki, Kristiina, Nevanlinna, Heli, Ausems, Margreet G. E. M., de Lange, J. L., Gómez Garcia, Encarna B., Hogervorst, Frans B. L., Kets, Carolien M., Meijers-Heijboer, Hanne E. J., Oosterwijk, Jan C., Rookus, Matti A., van Asperen, Christi J., van den Ouweland, Ans M. W., van Doorn, Helena C., van Os, Theo A. M., Kwong, Ava, Olah, Edith, Diez, Orland, Brunet, Joan, Lazaro, Conxi, Teulé, Alex, Gronwald, Jacek, Jakubowska, Anna, Kaczmarek, Katarzyna, Lubinski, Jan, Sukiennicki, Grzegorz, Barkardottir, Rosa B., Chiquette, Jocelyne, Agata, Simona, Montagna, Marco, Teixeira, Manuel R., Park, Sue Kyung, Olswold, Curtis, Tischkowitz, Marc, Foretova, Lenka, Gaddam, Pragna, Vijai, Joseph, Pfeiler, Georg, Rappaport-Fuerhauser, Christine, Singer, Christian F., Tea, Muy-Kheng M., Greene, Mark H., Loud, Jennifer T., Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Hays, John L., Piedmonte, Marion, Rodriguez, Gustavo C., Martyn, Julie, Glendon, Gord, Mulligan, Anna Marie, Andrulis, Irene L., Toland, Amanda Ewart, Jensen, Uffe Birk, Kruse, Torben A., Pedersen, Inge Sokilde, Thomassen, Mads, Caligo, Maria A., Teo, Soo-Hwang, Berger, Raanan, Friedman, Eitan, Laitman, Yael, Arver, Brita, Borg, Ake, Ehrencrona, Hans, Rantala, Johanna, Olopade, Olufunmilayo I., Ganz, Patricia A., Nussbaum, Robert L., Bradbury, Angela R., Domchek, Susan M., Nathanson, Katherine L., Arun, Banu K., James, Paul, Karlan, Beth Y., Lester, Jenny, Simard, Jacques, Pharoah, Paul D. P., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C.
Wydane w J Natl Cancer Inst (2017)

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...

od 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
Wydane 2011

Ovarian Cancer Susceptibility Alleles and Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers

od 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, Toland, Amanda Ewart, Montagna, Marco, Tognazzo, Silvia, Imyanitov, Evgeny, Isaacs, Claudine, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, 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
Wydane 2012