Alterations of the Notch pathway in lung cancer von Westhoff, Britta, Colaluca, Ivan N, D'Ario, Giovanni, Donzelli, Maddalena, Tosoni, Daniela, Volorio, Sara, Pelosi, Giuseppe, Spaggiari, Lorenzo, Mazzarol, Giovanni, Viale, Giuseppe, Pece, Salvatore, Di Fiore, Pier Paolo

Volltext

Acute myeloid leukemia bearing cytoplasmic nucleophosmin (NPMc+ AML) shows a distinct gene expression profile characterized by up-regulation of genes involved in stem-cell maintena... von Alcalay, Myriam, Tiacci, Enrico, Bergomas, Roberta, Bigerna, Barbara, Venturini, Elisa, Minardi, Simone P., Meani, Natalia, Diverio, Daniela, Bernard, Loris, Tizzoni, Laura, Volorio, Sara, Luzi, Lucilla, Colombo, Emanuela, Lo Coco, Francesco, Mecucci, Cristina, Falini, Brunangelo, Pelicci, Pier Giuseppe

Volltext

Delocalization and destabilization of the Arf tumor suppressor by the leukemia-associated NPM mutant von COLOMBO, Emanuela, MARTINELLI, Paola, GIUSEPPE PELICCI, Pier, ZAMPONI, Raffaella, SHING, Danielle C, BONETTI, Paola, LUZI, Lucilla, VOLORIO, Sara, BERNARD, Loris, PRUNERI, Giancarlo, ALCALAY, Myriam

Volltext

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

Volltext

OncoPan ® : An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma von Tibiletti, Maria Grazia, Carnevali, Ileana, Pensotti, Valeria, Chiaravalli, Anna Maria, Facchi, Sofia, Volorio, Sara, Mariette, Frederique, Mariani, Paolo, Fortuzzi, Stefano, Pierotti, Marco Alessandro, Sessa, Fausto

Volltext

The lymphoma-associated NPM-ALK oncogene elicits a p16INK4a/pRb-dependent tumor-suppressive pathway von Martinelli, Paola, Bonetti, Paola, Sironi, Cristina, Pruneri, Giancarlo, Fumagalli, Caterina, Raviele, Paola Rafaniello, Volorio, Sara, Pileri, Stefano, Chiarle, Roberto, McDuff, Fiona Kate Elizabeth, Tusi, Betsabeh Khoramian, Turner, Suzanne D., Inghirami, Giorgio, Pelicci, Pier Giuseppe, Colombo, Emanuela

Volltext

Ultradeep sequencing of a human ultraconserved region reveals somatic and constitutional genomic instability von De Grassi, Anna, Segala, Cinzia, Iannelli, Fabio, Volorio, Sara, Bertario, Lucio, Radice, Paolo, Bernard, Loris, Ciccarelli, Francesca D

Volltext

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families von Catucci, Irene, Milgrom, Roni, Kushnir, Anya, Laitman, Yael, Paluch-Shimon, Shani, Volorio, Sara, Ficarazzi, Filomena, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Peterlongo, Paolo

Volltext

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) von MAVADDAT, Nasim, BARROWDALE, Daniel, MULLIGAN, Anna Marie, COUCH, Fergus J, ENGEL, Christoph, MCGUFFOG, Lesley, HEALER, Sue, SINILNIKOVA, Olga M, SOUTHEY, Melissa C, TERRY, Mary Beth, GOLDGAR, David, O'MALLEY, Frances, ANDRULIS, Irene L, JOHN, Esther M, JANAVICIUS, Ramunas, TIHOMIROVA, Laima, HANSEN, Thomas V. O, NIELSEN, Finn C, OSORIO, Ana, STAVROPOULOU, Alexandra, BENITEZ, Javier, MANOUKIAN, Siranoush, PEISSEL, Bernard, DOMCHEK, Susan M, BARILE, Monica, VOLORIO, Sara, PASIN, Barbara, DOLCETTI, Riccardo, PUTIGNANO, Anna Laura, OTTINI, Laura, RADICE, Paolo, HAMANN, Ute, RASHID, Muhammad U, HOGERVORST, Frans B, ECCLES, Diana, KRIEGE, Mieke, VAN DER LUIJT, Rob B, HEBON, PEOCK, Susan, FROST, Debra, GARETH EVANS, D, BREWER, Carole, WALKER, Lisa, ROGERS, Mark T, SIDE, Lucy E, NEVANLINNA, Heli, HOUGHTON, Catherine, EMBRACE, WEAVER, Joellen, GODWIN, Andrew K, SCHMUTZLER, Rita K, WAPPENSCHMIDT, Barbara, MEINDL, Alfons, KAST, Karin, RAMUS, Susan J, SPURDLE, Amanda, ROBSON, Mark, SHERMAN, Mark

Volltext

Identification of six new susceptibility loci for invasive epithelial ovarian cancer von Lee, Andrew, Pejovic, Tanja, Li, Qiyuan, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Buys, Saundra S, Janavicius, Ramunas, Barrowdale, Daniel, Dennis, Joe, Papi, Laura, Konstantopoulou, Irene, Frost, Debra, Platte, Radka, Ellis, Steve, Sinilnikova, Olga M, Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Piedmonte, Marion, O'Malley, David M, de la Hoya, Miguel, Aittomäki, Kristiina, Rookus, Matti A, Tihomirova, Laima, Hamann, Ute, Imyanitov, Evgeny N, Hogervorst, Frans B L, Diez, Orland, Blanco, Ignacio, Lubinski, Jan, Sukiennicki, Grzegorz, Barkardottir, Rosa B, Plante, Marie, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R, Pankratz, Vernon S, Wang, Xianshu, Vijai, Joseph, Aghajanian, Carol A, Berger, Andreas, Tea, Muy-Kheng, Rennert, Gad, Glendon, Gord, Kruse, Torben A, Thomassen, Mads, Zidan, Jamal, Einbeigi, Zakaria, Nussbaum, Robert L, Lester, Jenny, Lambrechts, Diether, Lambrechts, Sandrina, Dicks, Ed, Rossing, Mary Anne, Eilber, Ursula, Wilkens, Lynne R, Hillemanns, Peter, Antonenkova, Natalia, Leminen, Arto, Modugno, Francesmary, Ness, Roberta B, Matsuo, Keitaro, Hosono, Satoyo, Kjaer, Susanne Kruger, Hogdall, Estrid, Woo, Yin-Ling, Goode, Ellen L, Berchuck, Andrew, Iversen, Edwin S, Cramer, Daniel W, Terry, Kathryn L, Bandera, Elisa V, Orlow, Irene, Tangen, Ingvild L, Aben, Katja K H, Brooks-Wilson, Angela, Cybulski, Cezary, Lundvall, Lene, Baker, Helen, Eccles, Diana, Paul, James, Carty, Karen, McGuire, Valerie, Zheng, Wei, Gao, Yu-Tang, Rosen, Barry, Risch, Harvey A, Narod, Steven A, Monteiro, Alvaro N, Lin, Hui-Yi, Tsai, Ya-Yu, Ziogas, Argyrios, Anton-Culver, Hoda, Gentry-Maharaj, Aleksandra, Menon, Usha, Dansonka-Mieszkowska, Agnieszka, Easton, Douglas F, Chenevix-Trench, Georgia

Volltext

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase von REYMOND, A, VOLORIO, S, MERLA, G, AL-MAGHTHEH, M, ZUFFARDI, O, BULFONE, A, BALLABIO, A, ZOLLO, M

Volltext

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk von Couch, Fergus J, Wang, Xianshu, McGuffog, Lesley, Lee, Andrew, Olswold, Curtis, Kuchenbaecker, Karoline B, Soucy, Penny, Fredericksen, Zachary, Barrowdale, Daniel, Dennis, Joe, Gaudet, Mia M, Dicks, Ed, Kosel, Matthew, Healey, Sue, Sinilnikova, Olga M, Lee, Adam, Bacot, François, Vincent, Daniel, Hogervorst, Frans B L, Peock, Susan, Stoppa-Lyonnet, Dominique, Jakubowska, Anna, Radice, Paolo, Schmutzler, Rita Katharina, Domchek, Susan M, Piedmonte, Marion, Singer, Christian F, Friedman, Eitan, Thomassen, Mads, Hansen, Thomas V O, Neuhausen, Susan L, Szabo, Csilla I, Blanco, Ignacio, Greene, Mark H, Karlan, Beth Y, Garber, Judy, Phelan, Catherine M, Weitzel, Jeffrey N, Montagna, Marco, Olah, Edith, Andrulis, Irene L, Godwin, Andrew K, Yannoukakos, Drakoulis, Goldgar, David E, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, Terry, Mary Beth, Daly, Mary B, van Rensburg, Elizabeth J, Hamann, Ute, Ramus, Susan J, Toland, Amanda Ewart, Caligo, Maria A, Olopade, Olufunmilayo I, Tung, Nadine, Claes, Kathleen, Beattie, Mary S, Southey, Melissa C, Imyanitov, Evgeny N, Tischkowitz, Marc, Janavicius, Ramunas, John, Esther M, Kwong, Ava, Diez, Orland, Balmaña, Judith, Barkardottir, Rosa B, Arun, Banu K, Rennert, Gad, Teo, Soo-Hwang, Ganz, Patricia A, Campbell, Ian, van der Hout, Annemarie H, van Deurzen, Carolien H M, Seynaeve, Caroline, Gómez Garcia, Encarna B, van Leeuwen, Flora E, Meijers-Heijboer, Hanne E J, Gille, Johannes J P, Ausems, Margreet G E M, Blok, Marinus J, Ligtenberg, Marjolijn J L, Rookus, Matti A, Devilee, Peter, Verhoef, Senno, van Os, Theo A M, Wijnen, Juul T, Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D Gareth, Izatt, Louise, Eeles, Rosalind A, Adlard, Julian, Eccles, Diana M, Cook, Jackie, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley

Volltext

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg? von Brignola, Clorinda, Volorio, Sara, De Vecchi, Giovanna, Zaffaroni, Daniela, Dall’Olio, Valentina, Mariette, Frederique, Sardella, Domenico, Capra, Fabio, Signoroni, Stefano, Rausa, Emanuele, Vitellaro, Marco, Pensotti, Valeria, Ricci, Maria Teresa

Volltext

The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases von De Vecchi, Giovanna, PhD, Verderio, Paolo, PhD, Pizzamiglio, Sara, MSc, Manoukian, Siranoush, MD, Bernard, Loris, MSc, Pensotti, Valeria, MSc, Volorio, Sara, MSc, Ravagnani, Fernando, MD, Radice, Paolo, PhD, Peterlongo, Paolo, PhD

Volltext

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation von Ghoussaini, Maya, Edwards, Stacey L., Hillman, Kristine M., Kaufmann, Susanne, Beesley, Jonathan, Dennis, Joe, Bolla, Manjeet K., Dicks, Ed, Guo, Qi, Schmidt, Marjanka K., Shah, Mitul, Luben, Robert, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig E., Nordestgaard, Børge G., Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, Th Rutgers, Emiel J., Couch, Fergus J., Hallberg, Emily, Vachon, Celine, Seibold, Petra, Flesch-Janys, Dieter, dos-Santos-Silva, Isabel, Gibson, Lorna, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Hall, Per, Kang, Daehee, Park, Sue K., Iwata, Hiroji, Truong, Thérèse, Menegaux, Florence, Burwinkel, Barbara, Marme, Frederik, Sohn, Christof, Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O., Perez, Jose Ignacio Arias, Shu, Xiao-Ou, Cai, Qiuyin, Reed, Malcolm W. R., Tchatchou, Sandrine, Sawyer, Elinor J., Kerin, Michael J., Henderson, Brian E., YIP, Cheng Har, Wong, Tien Y., Martens, John W. M., Hopper, John L., Tsimiklis, Helen, Kapuscinski, Miroslav K., Shen, Chen-Yang, Giles, Graham G., Hartman, Mikael, Haeberle, Lothar, Ekici, Arif B., Ashworth, Alan, García-Closas, Montserrat, Lissowska, Jolanta, Simard, Jacques, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Brauch, Hiltrud, Brüning, Thomas, Radice, Paolo, Volorio, Sara, Helbig, Sonja, Mannermaa, Arto, Kataja, Vesa, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Jaworska-Bieniek, Katarzyna, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Sangrajrang, Suleeporn, McKay, James, Long, Jirong, Anton-Culver, Hoda, Neuhausen, Susan L., Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, González-Neira, Anna, Herrero, Daniel, Vincent, Daniel, Carroll, Jason, Caldas, Carlos, Brown, Melissa A., Lupien, Mathieu, Kristensen, Vessela N., Easton, Douglas F.

Volltext

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

Volltext

Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis von Ricci, Maria Teresa, Volorio, Sara, Signoroni, Stefano, Mariani, Paolo, Mariette, Frederique, Sardella, Domenico, Pensotti, Valeria, Vitellaro, Marco

Volltext

DEK Expression is Controlled by E2F and Deregulated in Diverse Tumor Type von Carro, Maria Stella, Spiga, Fabio Mario, Quarto, Micaela, Ninni, Valentina Di, Volorio, Sara, Alcalay, Myriam, Müller, Heiko

Volltext

DEK Expression is controlled by E2F and deregulated in diverse tumor types von Carro, Maria Stella, Spiga, Fabio Mario, Quarto, Micaela, Di Ninni, Valentina, Volorio, Sara, Alcalay, Myriam, Müller, Heiko

Volltext

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

Volltext