Editorial: Accomplishments, Collaborative Projects and Future Initiatives in Breast Cancer Genetic Predisposition

por Peterlongo, Paolo, Carvajal-Carmona, Luis G.
Publicado 2019

Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer

por Peterlongo, Paolo, Figlioli, Gisella, Deans, Andrew J., Couch, Fergus J.
Publicado 2021

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

por Catucci, Irene, Radice, Paolo, Milne, Roger L., Couch, Fergus J., Southey, Melissa C., Peterlongo, Paolo
Publicado 2016

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 2012

Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?

por 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
Publicado 2021

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 2015

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction

por 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
Publicado 2018

Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

por Rizzolo, Piera, Silvestri, Valentina, Valentini, Virginia, Zelli, Veronica, Bucalo, Agostino, Zanna, Ines, Bianchi, Simonetta, Tibiletti, Maria Grazia, Russo, Antonio, Varesco, Liliana, Tedaldi, Gianluca, Bonanni, Bernardo, Azzollini, Jacopo, Manoukian, Siranoush, Coppa, Anna, Giannini, Giuseppe, Cortesi, Laura, Viel, Alessandra, Montagna, Marco, Peterlongo, Paolo, Radice, Paolo, Palli, Domenico, Ottini, Laura
Publicado 2019

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

por 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
Publicado 2018

Association between CASP8 –652 6N Del Polymorphism (rs3834129) and Colorectal Cancer Risk: Results from a Multi-Centric Study

por Pardini, Barbara, Verderio, Paolo, Pizzamiglio, Sara, Nici, Carmela, Maiorana, Maria Valeria, Naccarati, Alessio, Vodickova, Ludmila, Vymetalkova, Veronika, Veneroni, Silvia, Daidone, Maria Grazia, Ravagnani, Fernando, Bianchi, Tiziana, Bujanda, Luis, Carracedo, Angel, Castells, Antoni, Ruiz-Ponte, Clara, Morreau, Hans, Howarth, Kimberley, Jones, Angela, Castellví-Bel, Sergi, Li, Li, Tomlinson, Ian, Van Wezel, Tom, Vodicka, Pavel, Radice, Paolo, Peterlongo, Paolo
Publicado 2014

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

por Hernández, Gonzalo, Ramírez, María José, Minguillón, Jordi, Quiles, Paco, Ruiz de Garibay, Gorka, Aza-Carmona, Miriam, Bogliolo, Massimo, Pujol, Roser, Prados-Carvajal, Rosario, Fernández, Juana, García, Nadia, López, Adrià, Gutiérrez-Enríquez, Sara, Diez, Orland, Benítez, Javier, Salinas, Mónica, Teulé, Alex, Brunet, Joan, Radice, Paolo, Peterlongo, Paolo, Schindler, Detlev, Huertas, Pablo, Puente, Xose S, Lázaro, Conxi, Pujana, Miquel Àngel, Surrallés, Jordi
Publicado 2018

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

por Abulí, Anna, Bujanda, Luis, Muñoz, Jenifer, Buch, Stephan, Schafmayer, Clemens, Valeria Maiorana, Maria, Veneroni, Silvia, van Wezel, Tom, Liu, Tao, Westers, Helga, Esteban-Jurado, Clara, Ocaña, Teresa, Piqué, Josep M., Andreu, Montserrat, Jover, Rodrigo, Carracedo, Angel, Xicola, Rosa M., Llor, Xavier, Castells, Antoni, Dunlop, Malcolm, Hofstra, Robert, Lindblom, Annika, Wijnen, Juul, Peterlongo, Paolo, Hampe, Jochen, Ruiz-Ponte, Clara, Castellví-Bel, Sergi
Publicado 2014

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy

por 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
Publicado 2021

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 2013

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

por Slavin, Thomas P., Maxwell, Kara N., Lilyquist, Jenna, Vijai, Joseph, Neuhausen, Susan L., Hart, Steven N., Ravichandran, Vignesh, Thomas, Tinu, Maria, Ann, Villano, Danylo, Schrader, Kasmintan A., Moore, Raymond, Hu, Chunling, Wubbenhorst, Bradley, Wenz, Brandon M., D’Andrea, Kurt, Robson, Mark E., Peterlongo, Paolo, Bonanni, Bernardo, Ford, James M., Garber, Judy E., Domchek, Susan M., Szabo, Csilla, Offit, Kenneth, Nathanson, Katherine L., Weitzel, Jeffrey N., Couch, Fergus J.
Publicado 2017

Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

por Slavin, Thomas P., Maxwell, Kara N., Lilyquist, Jenna, Vijai, Joseph, Neuhausen, Susan L., Hart, Steve N., Ravichandran, Vignesh, Thomas, Tinu, Maria, Ann, Villano, Danylo, Schrader, Kasmintan A., Moore, Raymond, Hu, Chunling, Wubbenhorst, Bradley, Wenz, Brandon M., D’Andrea, Kurt, Robson, Mark E., Peterlongo, Paolo, Bonanni, Bernardo, Ford, James M., Garber, Judy E., Domchek, Susan M., Szabo, Csilla, Offit, Kenneth, Nathanson, Katherine L., Weitzel, Jeffrey N., Couch, Fergus J.
Publicado 2017

Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility

por Picelli, Simone, Lorenzo Bermejo, Justo, Chang-Claude, Jenny, Hoffmeister, Michael, Fernández-Rozadilla, Ceres, Carracedo, Angel, Castells, Antoni, Castellví-Bel, Sergi, Naccarati, Alessio, Pardini, Barbara, Vodickova, Ludmila, Müller, Heiko, Talseth-Palmer, Bente A., Stibbard, Geoffrey, Peterlongo, Paolo, Nici, Carmela, Veneroni, Silvia, Li, Li, Casey, Graham, Tenesa, Albert, Farrington, Susan M., Tomlinson, Ian, Moreno, Victor, van Wezel, Tom, Wijnen, Juul, Dunlop, Malcolm, Radice, Paolo, Scott, Rodney J., Vodicka, Pavel, Ruiz-Ponte, Clara, Brenner, Hermann, Buch, Stephan, Völzke, Henry, Hampe, Jochen, Schafmayer, Clemens, Lindblom, Annika
Publicado 2013

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)

por Knappskog, Stian, Gansmo, Liv B., Dibirova, Khadizha, Metspalu, Andres, Cybulski, Cezary, Peterlongo, Paolo, Aaltonen, Lauri, Vatten, Lars, Romundstad, Pål, Hveem, Kristian, Devilee, Peter, Evans, Gareth D., Lin, Dongxin, Camp, Guy Van, Manolopoulos, Vangelis G., Osorio, Ana, Milani, Lili, Ozcelik, Tayfun, Zalloua, Pierre, Mouzaya, Francis, Bliznetz, Elena, Balanovska, Elena, Pocheshkova, Elvira, Kučinskas, Vaidutis, Atramentova, Lubov, Nymadawa, Pagbajabyn, Titov, Konstantin, Lavryashina, Maria, Yusupov, Yuldash, Bogdanova, Natalia, Koshel, Sergey, Zamora, Jorge, Wedge, David C., Charlesworth, Deborah, Dörk, Thilo, Balanovsky, Oleg, Lønning, Per E.
Publicado 2014

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

por Burke, Leslie J., Sevcik, Jan, Gambino, Gaetana, Tudini, Emma, Mucaki, Eliseos J., Shirley, Ben C., Whiley, Phillip, Parsons, Michael T., De Leeneer, Kim, Gutiérrez‐Enríquez, Sara, Santamariña, Marta, Caputo, Sandrine M., Santana dos Santos, Elizabeth, Soukupova, Jana, Janatova, Marketa, Zemankova, Petra, Lhotova, Klara, Stolarova, Lenka, Borecka, Mariana, Moles‐Fernández, Alejandro, Manoukian, Siranoush, Bonanni, Bernardo, Edwards, Stacey L., Blok, Marinus J., van Overeem Hansen, Thomas, Rossing, Maria, Diez, Orland, Vega, Ana, Claes, Kathleen B.M., Goldgar, David E., Rouleau, Etienne, Radice, Paolo, Peterlongo, Paolo, Rogan, Peter K., Caligo, Maria, Spurdle, Amanda B., Brown, Melissa A.
Publicado 2018

Homologous recombination DNA repair defects in PALB2-associated breast cancers

por Li, Anqi, Geyer, Felipe C., Blecua, Pedro, Lee, Ju Youn, Selenica, Pier, Brown, David N., Pareja, Fresia, Lee, Simon S. K., Kumar, Rahul, Rivera, Barbara, Bi, Rui, Piscuoglio, Salvatore, Wen, Hannah Y., Lozada, John R., Gularte-Mérida, Rodrigo, Cavallone, Luca, Rezoug, Zoulikha, Nguyen-Dumont, Tu, Peterlongo, Paolo, Tondini, Carlo, Terkelsen, Thorkild, Rønlund, Karina, Boonen, Susanne E., Mannerma, Arto, Winqvist, Robert, Janatova, Marketa, Rajadurai, Pathmanathan, Xia, Bing, Norton, Larry, Robson, Mark E., Ng, Pei-Sze, Looi, Lai-Meng, Southey, Melissa C., Weigelt, Britta, Soo-Hwang, Teo, Tischkowitz, Marc, Foulkes, William D., Reis-Filho, Jorge S.
Publicado 2019