Search Results - "VOLORIO, Sara"

Alterations of the Notch pathway in lung cancer by 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

“…Notch signaling regulates cell specification and homeostasis of stem cell compartments, and it is counteracted by the cell fate determinant Numb. Both Numb and…”
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Acute myeloid leukemia bearing cytoplasmic nucleophosmin (NPMc+ AML) shows a distinct gene expression profile characterized by up-regulation of genes involved in stem-cell maintenance by 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

“…Approximately one third of acute myeloid leukemias (AML55553) are characterized by aberrant cytoplasmic localization of nucleophosmin (NPMc+ AML), consequent…”
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Delocalization and destabilization of the Arf tumor suppressor by the leukemia-associated NPM mutant by COLOMBO, Emanuela, MARTINELLI, Paola, GIUSEPPE PELICCI, Pier, ZAMPONI, Raffaella, SHING, Danielle C, BONETTI, Paola, LUZI, Lucilla, VOLORIO, Sara, BERNARD, Loris, PRUNERI, Giancarlo, ALCALAY, Myriam

“…One third of acute myeloid leukemias (AMLs) are characterized by the aberrant cytoplasmic localization of nucleophosmin (NPM) due to mutations within its…”
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Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction by 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

“…PALB2 (partner and localizer of BRCA2) was initially identified as a binding partner of BRCA2. It interacts also with BRCA1 forming a complex promoting DNA…”
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OncoPan ® : An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma by 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

“…Pancreatic cancer has a high morbidity and mortality with the majority being PC ductal adenocarcinomas (PDAC). Whole genome sequencing provides a wide…”
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The lymphoma-associated NPM-ALK oncogene elicits a p16INK4a/pRb-dependent tumor-suppressive pathway by 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

“…Oncogene-induced senescence (OIS) is a barrier for tumor development. Oncogene-dependent DNA damage and activation of the ARF/p53 pathway play a central role…”
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Ultradeep sequencing of a human ultraconserved region reveals somatic and constitutional genomic instability by De Grassi, Anna, Segala, Cinzia, Iannelli, Fabio, Volorio, Sara, Bertario, Lucio, Radice, Paolo, Bernard, Loris, Ciccarelli, Francesca D

“…Early detection of cancer-associated genomic instability is crucial, particularly in tumour types in which this instability represents the essential underlying…”
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Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families by Catucci, Irene, Milgrom, Roni, Kushnir, Anya, Laitman, Yael, Paluch-Shimon, Shani, Volorio, Sara, Ficarazzi, Filomena, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Peterlongo, Paolo

“…Germline mutations in BRCA1 and BRCA2 account for ~30 % of inherited breast cancer. BRIP1 and PALB2 are likely genes for breast cancer susceptibility, based on…”
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Evidence for interaction between human PRUNE and nm23-H1 NDPKinase by REYMOND, A, VOLORIO, S, MERLA, G, AL-MAGHTHEH, M, ZUFFARDI, O, BULFONE, A, BALLABIO, A, ZOLLO, M

“…We have isolated a human and murine homologue of the Drosophila prune gene through dbEST searches. The gene is ubiquitously expressed in human adult tissues,…”
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The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases by 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

“…Abstract Background : Germline disease-causing mutations in BRCA1 and BRCA2 genes confer high risk of breast and ovarian cancer, but account approximately for…”
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DEK Expression is Controlled by E2F and Deregulated in Diverse Tumor Type by Carro, Maria Stella, Spiga, Fabio Mario, Quarto, Micaela, Ninni, Valentina Di, Volorio, Sara, Alcalay, Myriam, Müller, Heiko

“…Deregulation of the retinoblastoma (pRB) tumor suppressor pathway associated with aberrant activity of E2F transcription factors is frequently observed in…”
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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) by 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

“…Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should…”
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk by 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

“…BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a…”
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De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg? by 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

“…Lynch Syndrome is an autosomal dominant cancer predisposition syndrome caused by germline pathogenic variants or epimutation in one of the DNA mismatch repair…”
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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 by 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

“…Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To…”
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Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation by 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.

“…GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50…”
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Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis by Ricci, Maria Teresa, Volorio, Sara, Signoroni, Stefano, Mariani, Paolo, Mariette, Frederique, Sardella, Domenico, Pensotti, Valeria, Vitellaro, Marco

“…Introduction: Recent advances in technology and research are rapidly changing the diagnostic approach to hereditary gastrointestinal cancer (HGIC) syndromes…”
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DEK Expression is controlled by E2F and deregulated in diverse tumor types by Carro, Maria Stella, Spiga, Fabio Mario, Quarto, Micaela, Di Ninni, Valentina, Volorio, Sara, Alcalay, Myriam, Müller, Heiko

“…Deregulation of the retinoblastoma (pRB) tumor suppressor pathway associated with aberrant activity of E2F transcription factors is frequently observed in…”
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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 by 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

“…Germline pathogenic variants (PVs) in the or genes cause high breast cancer risk. Recurrent or founder PVs have been described worldwide including some in the…”
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Immunohistochemistry predicts nucleophosmin (NPM) mutations in acute myeloid leukemia by Falini, Brunangelo, Martelli, Maria Paola, Bolli, Niccolò, Bonasso, Rossella, Ghia, Emanuela, Pallotta, Maria Teresa, Diverio, Daniela, Nicoletti, Ildo, Pacini, Roberta, Tabarrini, Alessia, Galletti, Barbara Verducci, Mannucci, Roberta, Roti, Giovanni, Rosati, Roberto, Specchia, Giorgina, Liso, Arcangelo, Tiacci, Enrico, Alcalay, Myriam, Luzi, Lucilla, Volorio, Sara, Bernard, Loris, Guarini, Anna, Amadori, Sergio, Mandelli, Franco, Pane, Fabrizio, Lo-Coco, Francesco, Saglio, Giuseppe, Pelicci, Pier-Giuseppe, Martelli, Massimo F., Mecucci, Cristina

“…Nucleophosmin (NPM) exon-12 mutations occur in 50% to 60% of adult acute myeloid leukemia (AML) with normal karyotype and are predictors of favorable…”
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