Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study

Autor: Bucalo, Agostino, Conti, Giulia, Valentini, Virginia, Capalbo, Carlo, Bruselles, Alessandro, Tartaglia, Marco, Bonanni, Bernardo, Calistri, Daniele, Coppa, Anna, Cortesi, Laura, Giannini, Giuseppe, Gismondi, Viviana, Manoukian, Siranoush, Manzella, Livia, Montagna, Marco, Peterlongo, Paolo, Radice, Paolo, Russo, Antonio, Tibiletti, Maria Grazia, Turchetti, Daniela, Viel, Alessandra, Zanna, Ines, Palli, Domenico, Silvestri, Valentina, Ottini, Laura

Publikováno v: In European Journal of Cancer July 2023 188:183-191

Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

Autor: Adami, Francesca, Alducci, Elisa, Amadori, Lucia, Arcangeli, Valentina, Balestrino, Luisa, Bao, Quoc Riccardo, Barana, Daniela, Bertario, Lucio, Bonanni, Bernardo, Boni, Stefania, Bullian, Pierluigi, Carbonardi, Fiorella, Carnevali, Ileana, Castelli, Paola, Celotto, Francesco, Cini, Giulia, Crivellari, Gino, Libera, Duilio Della, Dell'elice, Anastasia, Digennaro, Maria, D'urso, Alessandra, Fabretto, Antonella, Fanale, Daniele, Feroce, Irene, Furlan, Daniela, Ghiorzo, Paola, Giacché, Mara, Gusella, Milena, Liserre, Barbara, Lucci Cordisco, Emanuela, Mammi, Isabella, Martayan, Aline, Massuras, Stefania, Mazzà, Daniela, Mollica, Eleonora, Morabito, Alberto, Nardo, Giorgia, Oliani, Cristina, Palermo, Flavia, Panizza, Elena, Patruno, Margherita, Pedroni, Monica, Pensotti, Valeria Grazia Maria, Piozzi, Guglielmo Niccolo, Ponz de Leon, Maurizio, Pozzi, Simonetta, Presi, Silvia, Pucciarelli, Salvatore, Puzzono, Marta, Ranzani, Guglielmina Nadia, Ravegnani, Mila, Remo, Andrea, Ricci, Maria Teresa, Roncucci, Luca, Rossi, Giovanni Battsita, Sala, Elena Maria, Mete, Lupe Sanchez, Sandonà, Daniele, Sciallero, Stefania, Serrano, Davide, Signoroni, Stefano, Spina, Francesca, Stigliano, Vittoria, Taborelli, Monica, Tedaldi, Gianluca, Tibiletti, Maria Grazia, Tognazzo, Silvia, Tolva, Gianluca, Trovato, Cristina Maria Concetta, Turchetti, Daniela, Urso, Emanuele Damiano Luca, Varvara, Dora, Viel, Alessandra, Vitellaro, Marco, Vivanet, Caterina, Zovato, Stefania, Zuppardo, Raffaella Alessia, Piozzi, Guglielmo Niccolò

Publikováno v: In Digestive and Liver Disease April 2021 53(4):409-417

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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

Autor: Block, Ines, Mateu-Regué, Àngels, Do, Thi Tuyet Nhu, Miceikaite, Ieva, Sdogati, Daniel, Larsen, Martin J., Hao, Qin, Nielsen, Henriette Roed, Boonen, Susanne E., Skytte, Anne-Bine, Jensen, Uffe Birk, Høffding, Louise K., De Nicolo, Arcangela, Viel, Alessandra, Tudini, Emma, Parsons, Michael T., Hansen, Thomas V. O., Rossing, Maria, Kruse, Torben A., Spurdle, Amanda B.

Publikováno v: Breast Cancer Research; 1/9/2024, Vol. 26 Issue 1, p1-14, 14p

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

Autor: Hakkaart, Christopher, Pearson, John F, Marquart, Louise, Dennis, Joe, Wiggins, George AR, 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 BM, GEMO Study Collaborators, EMBRACE Collaborators, 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 VO, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J, Imyanitov, Evgeny N, SWE-BRCA Investigators, KConFab Investigators, HEBON Investigators, 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 WM, 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

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444b9427cde6163d24f6adc68f9fbbc1