Hakutulokset - Catucci, Irene

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk Tekijä Catucci, Irene, Radice, Paolo, Milne, Roger L., Couch, Fergus J., Southey, Melissa C., Peterlongo, Paolo

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Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases Tekijä Catucci, Irene, Colombo, Mara, Verderio, Paolo, Bernard, Loris, Ficarazzi, Filomena, Mariette, Frederique, Barile, Monica, Peissel, Bernard, Cattaneo, Elisa, Manoukian, Siranoush, Radice, Paolo, Peterlongo, Paolo

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Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next? Tekijä Zuntini, Roberta, Bonora, Elena, Pradella, Laura Maria, Amato, Laura Benedetta, Vidone, Michele, De Fanti, Sara, Catucci, Irene, Cortesi, Laura, Medici, Veronica, Ferrari, Simona, Gasparre, Giuseppe, Peterlongo, Paolo, Sazzini, Marco, Turchetti, Daniela

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Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction Tekijä Caleca, Laura, Catucci, Irene, Figlioli, Gisella, De Cecco, Loris, Pesaran, Tina, Ward, Maggie, Volorio, Sara, Falanga, Anna, Marchetti, Marina, Iascone, Maria, Tondini, Carlo, Zambelli, Alberto, Azzollini, Jacopo, Manoukian, Siranoush, Radice, Paolo, Peterlongo, Paolo

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Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer predisposing gene PALB2 Tekijä Catucci, Irene, Casadei, Silvia, Ding, Yuan Chun, Volorio, Sara, Ficarazzi, Filomena, Falanga, Anna, Marchetti, Marina, Tondini, Carlo, Franchi, Michela, Adamson, Aaron, Mandel, Jessica, Walsh, Tom, Olopade, Olufunmilayo I, Manoukian, Siranoush, Radice, Paolo, Ricker, Charite, Weitzel, Jeffrey, King, Mary-Claire, Peterlongo, Paolo, Neuhausen, Susan L.

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Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy Tekijä Rizzolo, Piera, Silvestri, Valentina, Bucalo, Agostino, Zelli, Veronica, Valentini, Virginia, Catucci, Irene, Zanna, Ines, Masala, Giovanna, Bianchi, Simonetta, Spinelli, Alessandro Mauro, Tommasi, Stefania, Tibiletti, Maria Grazia, Russo, Antonio, Varesco, Liliana, Coppa, Anna, Calistri, Daniele, Cortesi, Laura, Viel, Alessandra, Bonanni, Bernardo, Azzollini, Jacopo, Manoukian, Siranoush, Montagna, Marco, Radice, Paolo, Palli, Domenico, Peterlongo, Paolo, Ottini, Laura

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Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy Tekijä Figlioli, Gisella, De Nicolo, Arcangela, Catucci, Irene, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Beltrami, Benedetta, Bonanni, Bernardo, Calvello, Mariarosaria, Bondavalli, Davide, Pasini, Barbara, Vignolo Lutati, Francesca, Ogliara, Paola, Zuradelli, Monica, Pensotti, Valeria, De Vecchi, Giovanna, Volorio, Sara, Verderio, Paolo, Pizzamiglio, Sara, Matullo, Giuseppe, Aneli, Serena, Birolo, Giovanni, Zanardi, Federica, Tondini, Carlo, Zambelli, Alberto, Livraghi, Luca, Franchi, Michela, Radice, Paolo, Peterlongo, Paolo

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Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles Tekijä Gracia-Aznarez, Francisco Javier, Fernandez, Victoria, Pita, Guillermo, Peterlongo, Paolo, Dominguez, Orlando, de la Hoya, Miguel, Duran, Mercedes, Osorio, Ana, Moreno, Leticia, Gonzalez-Neira, Anna, Rosa-Rosa, Juan Manuel, Sinilnikova, Olga, Mazoyer, Sylvie, Hopper, John, Lazaro, Conchi, Southey, Melissa, Odefrey, Fabrice, Manoukian, Siranoush, Catucci, Irene, Caldes, Trinidad, Lynch, Henry T., Hilbers, Florentine S. M., van Asperen, Christi J., Vasen, Hans F. A., Goldgar, David, Radice, Paolo, Devilee, Peter, Benitez, Javier

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

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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer Tekijä Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Lasheras, Sandra Viz, Pujol, Roser, Kiiski, Johanna I., Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E., Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guénel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamariña, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A.E.M., Torres, Diana, Troester, Melissa A., Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M., van Rensburg, Elizabeth J., van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Dörk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surrallés, Jordi, Peterlongo, Paolo

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS Tekijä Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen BM, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Spurdle, Amanda B, Investigators, kConFab, Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Olson, Janet E, Vachon, Celine, Pankratz, Vernon S, McLean, Catriona, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei, Hunter, David J, Lindstrom, Sara, Hankinson, Susan E, Kraft, Peter, Andrulis, Irene, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Jukkola-Vuorinen, Arja, Grip, Mervi, Kauppila, Saila, Devilee, Peter, Tollenaar, Robert A E M, Seynaeve, Caroline, Hollestelle, Antoinette, Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J, Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Eccles, Diana M, Rafiq, Sajjad, Tapper, William J, Gerty, Sue M, Hooning, Maartje J, Martens, John W M, Collée, J Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Brand, Judith S, Humphreys, Keith, Cox, Angela, Reed, Malcolm W R, Luccarini, Craig, Baynes, Caroline, Dunning, Alison M, Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rüdiger, Thomas, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Toland, Amanda E, Ambrosone, Christine B, Yannoukakos, Drakoulis, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, González-Neira, Anna, Pita, Guillermo, Alonso, M Rosario, Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Simard, Jacques, Dumont, Martine, Soucy, Penny, Eeles, Rosalind, Muir, Kenneth, Wiklund, Fredrik, Gronberg, Henrik, Schleutker, Johanna, Nordestgaard, Børge G, Weischer, Maren, Travis, Ruth C, Neal, David, Donovan, Jenny L, Hamdy, Freddie C, Khaw, Kay-Tee, Stanford, Janet L, Blot, William J, Thibodeau, Stephen, Schaid, Daniel J, Kelley, Joseph L, Maier, Christiane, Kibel, Adam S, Cybulski, Cezary, Cannon-Albright, Lisa, Butterbach, Katja, Park, Jong, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R, Kote-Jarai, Zsofia, Olama, Ali Amin Al, Benlloch, Sara, Renner, Stefan P, Hartmann, Arndt, Hein, Alexander, Ruebner, Matthias, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambretchs, Sandrina, Doherty, Jennifer A, Rossing, Mary Anne, Nickels, Stefan, Eilber, Ursula, Wang-Gohrke, Shan, Odunsi, Kunle, Sucheston-Campbell, Lara E, Friel, Grace, Lurie, Galina, Killeen, Jeffrey L, Wilkens, Lynne R, Goodman, Marc T, Runnebaum, Ingo, Hillemanns, Peter A, Pelttari, Liisa M, Butzow, Ralf, Modugno, Francesmary, Edwards, Robert P, Ness, Roberta B, Moysich, Kirsten B, du Bois, Andreas, Heitz, Florian, Harter, Philipp, Kommoss, Stefan, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Krüger, Høgdall, Estrid, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L, Fridley, Brooke L, Vierkant, Robert A, Cunningham, Julie M, Larson, Melissa C, Fogarty, Zachary C, Kalli, Kimberly R, Liang, Dong, Lu, Karen H, Hildebrandt, Michelle A T, Wu, Xifeng, Levine, Douglas A, Dao, Fanny, Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S, Marks, Jeffrey R, Akushevich, Lucy, Cramer, Daniel W, Schildkraut, Joellen, Terry, Kathryn L, Poole, Elizabeth M, Stampfer, Meir, Tworoger, Shelley S, Bandera, Elisa V, Orlow, Irene, Olson, Sara H, Bjorge, Line, Salvesen, Helga B, van Altena, Anne M, Aben, Katja K H, Kiemeney, Lambertus A, Massuger, Leon F A G, Pejovic, Tanja, Bean, Yukie, Brooks-Wilson, Angela, Kelemen, Linda E, Cook, Linda S, Le, Nhu D, Górski, Bohdan, Gronwald, Jacek, Menkiszak, Janusz, Høgdall, Claus K, Lundvall, Lene, Nedergaard, Lotte, Engelholm, Svend Aage, Dicks, Ed, Tyrer, Jonathan, Campbell, Ian, McNeish, Iain, Paul, James, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S, Rothstein, Joseph H, McGuire, Valerie, Sieh, Weiva, Cai, Hui, Shu, Xiao-Ou, Teten, Rachel T, Sutphen, Rebecca, McLaughlin, John R, Narod, Steven A, Phelan, Catherine M, Monteiro, Alvaro N, Fenstermacher, David, Lin, Hui-Yi, Permuth, Jennifer B, Sellers, Thomas A, Chen, Y Ann, Tsai, Ya-Yu, Chen, Zhihua, Gentry-Maharaj, Aleksandra, Gayther, Simon A, Ramus, Susan J, Menon, Usha, Wu, Anna H, Pearce, Celeste L, Van Den Berg, David, Pike, Malcolm C, Dansonka-Mieszkowska, Agnieszka, Plisiecka-Halasa, Joanna, Moes-Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul DP, Song, Honglin, Winship, Ingrid, Chenevix-Trench, Georgia, Giles, Graham G, Tavtigian, Sean V, Easton, Doug F, Milne, Roger L

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