Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases

Por Catucci, Irene, Colombo, Mara, Verderio, Paolo, Bernard, Loris, Ficarazzi, Filomena, Mariette, Frederique, Barile, Monica, Peissel, Bernard, Cattaneo, Elisa, Manoukian, Siranoush, Radice, Paolo, Peterlongo, Paolo
Publicado em 2012

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Por Colombo, Mara, De Vecchi, Giovanna, Caleca, Laura, Foglia, Claudia, Ripamonti, Carla B., Ficarazzi, Filomena, Barile, Monica, Varesco, Liliana, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo
Publicado em 2013

The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study

Por Iqbal, Javaid, Nussenzweig, Andre, Lubinski, Jan, Byrski, Tomasz, Eisen, Andrea, Bordeleau, Louise, Tung, Nadine M, Manoukian, Siranoush, Phelan, Catherine M, Sun, Ping, Narod, Steven A
Publicado no Br J Cancer (2016)

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

Por Azzollini, Jacopo, Pesenti, Chiara, Ferrari, Luca, Fontana, Laura, Calvello, Mariarosaria, Peissel, Bernard, Portera, Giorgio, Tabano, Silvia, Carcangiu, Maria Luisa, Riva, Paola, Miozzo, Monica, Manoukian, Siranoush
Publicado no PLoS One (2017)

miR-342 Regulates BRCA1 Expression through Modulation of ID4 in Breast Cancer

Por Crippa, Elisabetta, Lusa, Lara, De Cecco, Loris, Marchesi, Edoardo, Calin, George Adrian, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Daidone, Maria Grazia, Gariboldi, Manuela, Pierotti, Marco Alessandro
Publicado em 2014

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

Por Frigerio, Simona, Disciglio, Vittoria, Manoukian, Siranoush, Peissel, Bernard, Della Torre, Gabriella, Maurichi, Andrea, Collini, Paola, Pasini, Barbara, Gotti, Giacomo, Ferrari, Andrea, Rivoltini, Licia, Massimino, Maura, Rodolfo, Monica
Publicado em 2014

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

Por Roversi, Gaia, Picinelli, Chiara, Bestetti, Ilaria, Crippa, Milena, Perotti, Daniela, Ciceri, Sara, Saccheri, Fabiana, Collini, Paola, Poliani, Pietro L., Catania, Serena, Peissel, Bernard, Pagni, Fabio, Russo, Silvia, Peterlongo, Paolo, Manoukian, Siranoush, Finelli, Palma
Publicado no Sci Rep (2015)

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

Por 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
Publicado em 2014

Hormone Therapy and the Risk of Breast Cancer in BRCA1 Mutation Carriers

Por Eisen, Andrea, Lubinski, Jan, Gronwald, Jacek, Moller, Pal, Lynch, Henry T., Klijn, Jan, Kim-Sing, Charmaine, Neuhausen, Susan L., Gilbert, Lucy, Ghadirian, Parviz, Manoukian, Siranoush, Rennert, Gad, Friedman, Eitan, Isaacs, Claudine, Rosen, Eliot, Rosen, Barry, Daly, Mary, Sun, Ping, Narod, Steven A.
Publicado em 2008

SINGLE NUCLEOTIDE POLYMORPHISMS INSIDE microRNA TARGET SITES INFLUENCE TUMOR SUSCEPTIBILITY

Por Nicoloso, Milena S., Sun, Hao, Spizzo, Riccardo, Kim, Hyunsoo, Wickramasinghe, Priyankara, Shimizu, Masayoshi, Wojcik, Sylwia E., Ferdin, Jana, Kunej, Tanja, Xiao, Lianchun, Manoukian, Siranoush, Secreto, Giorgio, Ravagnani, Fernando, Wang, Xuemei, Radice, Paolo, Croce, Carlo M., Davuluri, Ramana V., Calin, George A.
Publicado em 2010

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

Por Metcalfe, Kelly A., Birenbaum-Carmeli, Daphna, Lubinski, Jan, Gronwald, Jacek, Lynch, Henry, Moller, Pal, Ghadirian, Parviz, Foulkes, William D., Klijn, Jan, Friedman, Eitan, Kim-Sing, Charmaine, Ainsworth, Peter, Rosen, Barry, Domchek, Susan, Wagner, Teresa, Tung, Nadine, Manoukian, Siranoush, Couch, Fergus, Sun, Ping, Narod, Steven A.
Publicado em 2008

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

Por Carvalho, Marcelo, Pino, Maria A., Karchin, Rachel, Beddor, Jennifer, Godinho-Netto, Martha, Mesquita, Rafael D., Rodarte, Renato S., Vaz, Danielle C., Monteiro, Viviane A., Manoukian, Siranoush, Colombo, Mara, Ripamonti, Carla B., Rosenquist, Richard, Suthers, Graeme, Borg, Ake, Radice, Paolo, Grist, Scott A., Monteiro, Alvaro N.A., Billack, Blase
Publicado em 2008

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Por Carvalho, Marcelo A., Marsillac, Sylvia M., Karchin, Rachel, Manoukian, Siranoush, Grist, Scott, Swaby, Ramona F., Urmenyi, Turan P., Rondinelli, Edson, Silva, Rosane, Gayol, Luis, Baumbach, Lisa, Sutphen, Rebecca, Pickard-Brzosowicz, Jennifer L., Nathanson, Katherine L., Sali, Andrej, Goldgar, David, Couch, Fergus J., Radice, Paolo, Monteiro, Alvaro N.A.
Publicado em 2007

Duration of Tamoxifen Use and the Risk of Contralateral Breast Cancer in BRCA1 and BRCA2 Mutation Carriers

Por Gronwald, Jacek, Robidoux, Andre, Kim-Sing, Charmaine, Tung, Nadine, Lynch, Henry T., Foulkes, William D., Manoukian, Siranoush, Ainsworth, Peter, Neuhausen, Susan, Demsky, Rochelle, Eisen, Andrea, Singer, Christian F., Saal, Howard, Senter, Leigha, Eng, Charis, Weitzel, Jeffrey, Moller, Pal, Gilchrist, Dawna M., Olopade, Olufunmilayo, Ginsburg, Ophira, Sun, Ping, Huzarski, Tomasz, Lubinski, Jan, Narod, Steven A.
Publicado em 2014

The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation

Por Valentini, Adriana, Lubinski, Jan, Byrski, Tomasz, Ghadirian, Parviz, Moller, Pal, Lynch, Henry T., Ainsworth, Peter, Neuhausen, Susan L., Weitzel, Jeffrey, Singer, Christian F., Olopade, Olufunmilayo I., Saal, Howard, Lyonnet, Dominique Stoppa, Foulkes, William D., Kim-Sing, Charmaine, Manoukian, Siranoush, Zakalik, Dana, Armel, Susan, Senter, Leigha, Eng, Charis, Grunfeld, Eva, Chiarelli, Anna M., Poll, Aletta, Sun, Ping, Narod, Steven A.
Publicado em 2013

Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

Por 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
Publicado em 2013

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Por Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.
Publicado em 2008

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

Por 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
Publicado no Hum Mol Genet (2015)

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Por Rebbeck, Timothy R., Friebel, Tara M., Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L., Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K., Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S., Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen B. M., Couch, Fergus J., Cybulski, Cezary, Daly, Mary B., de la Hoya, Miguel, Diez, Orland, Domchek, Susan M., Nathanson, Katherine L., Durda, Katarzyna, Ellis, Steve, Evans, D. Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M., Karlan, Beth Y., Kaufman, Bella, investigators, KConFab, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A., Seynaeve, Caroline, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I., Tancredi, Mariella, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J., Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Zidan, Jamal, Zorn, Kristin K., McGuffog, Lesley, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis C., Ramus, Susan J.
Publicado no Breast Cancer Res (2016)

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Por Cox, David G., Simard, Jacques, Sinnett, Daniel, Hamdi, Yosr, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Caligo, Maria A., Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S., Borg, Åke, Karlsson, Per, Stenmark Askmalm, Marie, Barbany Bustinza, Gisela, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Benítez, Javier, Hamann, Ute, Rookus, Matti A., van den Ouweland, Ans M.W., Ausems, Margreet G.E.M., Aalfs, Cora M., van Asperen, Christi J., Devilee, Peter, Gille, Hans J.J.P., Peock, Susan, Frost, Debra, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K., Remon, Marie-Alice, Moncoutier, Virginie, Gauthier-Villars, Marion, Lasset, Christine, Giraud, Sophie, Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay, Eisinger, François, Bressac de Paillerets, Brigitte, Caron, Olivier, Delnatte, Capucine, Goldgar, David, Miron, Alex, Ozcelik, Hilmi, Buys, Saundra, Southey, Melissa C., Terry, Mary Beth, Singer, Christian F., Dressler, Anne-Catharina, Tea, Muy-Kheng, Hansen, Thomas V.O., Johannsson, Oskar, Piedmonte, Marion, Rodriguez, Gustavo C., Basil, Jack B., Blank, Stephanie, Toland, Amanda E., Montagna, Marco, Isaacs, Claudine, Blanco, Ignacio, Gayther, Simon A., Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel, Nevanlinna, Heli, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan C., Couch, Fergus J., Wang, Xianshu, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Radice, Paolo, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Sinilnikova, Olga M.
Publicado em 2011