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347 results on '"Tavano, Francesca"'

1. Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk

Author: Ünal, Pelin, Lu, Ye, Bueno-de-Mesquita, Bas, van Eijck, Casper H. J., Talar-Wojnarowska, Renata, Szentesi, Andrea, Gazouli, Maria, Kreivenaite, Edita, Tavano, Francesca, Małecka-Wojciesko, Ewa, Erőss, Bálint, Oliverius, Martin, Bunduc, Stefania, Nóbrega Aoki, Mateus, Vodickova, Ludmila, Boggi, Ugo, Giaccherini, Matteo, Kondrackiene, Jurate, Chammas, Roger, Palmieri, Orazio, Theodoropoulos, George E., Bijlsma, Maarten F., Basso, Daniela, Mohelnikova-Duchonova, Beatrice, Soucek, Pavel, Izbicki, Jakob R., Kiudelis, Vytautas, Vanella, Giuseppe, Arcidiacono, Paolo Giorgio, Włodarczyk, Barbara, Hackert, Thilo, Schöttker, Ben, Uzunoglu, Faik G., Bambi, Franco, Goetz, Mara, Hlavac, Viktor, Brenner, Hermann, Perri, Francesco, Carrara, Silvia, Landi, Stefano, Hegyi, Péter, Dijk, Frederike, Maiello, Evaristo, Capretti, Giovanni, Testoni, Sabrina Gloria Giulia, Petrone, Maria Chiara, Stocker, Hannah, Ermini, Stefano, Archibugi, Livia, Gentiluomo, Manuel, Cavestro, Giulia Martina, Pezzilli, Raffaele, Di Franco, Gregorio, Milanetto, Anna Caterina, Sperti, Cosimo, Neoptolemos, John P., Morelli, Luca, Vokacova, Klara, Pasquali, Claudio, Lawlor, Rita T., Bazzocchi, Francesca, Kupcinskas, Juozas, Capurso, Gabriele, Campa, Daniele, and Canzian, Federico
Published: 2024
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2. Multi-omic markers of intraductal papillary mucinous neoplasms progression into pancreatic cancer

Author: Corradi, Chiara, Gentiluomo, Manuel, Adsay, Volkan, Sainz, Juan, Camisa, Paolo Riccardo, Wlodarczyk, Barbara, Crippa, Stefano, Tavano, Francesca, Capurso, Gabriele, and Campa, Daniele
Published: 2025
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3. Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians

Author: Piccardi, Margherita, Gentiluomo, Manuel, Bertoncini, Stefania, Pezzilli, Raffaele, Erőss, Bálint, Bunduc, Stefania, Uzunoglu, Faik G., Talar-Wojnarowska, Renata, Vanagas, Tomas, Sperti, Cosimo, Oliverius, Martin, Aoki, Mateus Nóbrega, Ermini, Stefano, Hussein, Tamás, Boggi, Ugo, Jamroziak, Krzysztof, Maiello, Evaristo, Morelli, Luca, Vodickova, Ludmila, Di Franco, Gregorio, Landi, Stefano, Szentesi, Andrea, Lovecek, Martin, Puzzono, Marta, Tavano, Francesca, van Laarhoven, Hanneke W. M., Zerbi, Alessandro, Mohelnikova-Duchonova, Beatrice, Stocker, Hannah, Costello, Eithne, Capurso, Gabriele, Ginocchi, Laura, Lawlor, Rita T., Vanella, Giuseppe, Bazzocchi, Francesca, Izbicki, Jakob R., Latiano, Anna, Bueno-de-Mesquita, Bas, Ponz de Leon Pisani, Ruggero, Schöttker, Ben, Soucek, Pavel, Hegyi, Péter, Gazouli, Maria, Hackert, Thilo, Kupcinskas, Juozas, Poskiene, Lina, Tacelli, Matteo, Roth, Susanne, Carrara, Silvia, Perri, Francesco, Hlavac, Viktor, Theodoropoulos, George E., Busch, Olivier R., Mambrini, Andrea, van Eijck, Casper H. J., Arcidiacono, Paolo, Scarpa, Aldo, Pasquali, Claudio, Basso, Daniela, Lucchesi, Maurizio, Milanetto, Anna Caterina, Neoptolemos, John P., Cavestro, Giulia Martina, Janciauskas, Dainius, Chen, Xuechen, Chammas, Roger, Goetz, Mara, Brenner, Hermann, Archibugi, Livia, Dannemann, Michael, Canzian, Federico, Tofanelli, Sergio, and Campa, Daniele
Published: 2023
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4. Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study

Author: Tavano, Francesca, Gioffreda, Domenica, Fontana, Andrea, Palmieri, Orazio, Gentile, Annamaria, Latiano, Tiziana, Latiano, Anna, Latiano, Tiziana Pia, Scaramuzzi, Matteo, Maiello, Evaristo, Bazzocchi, Francesca, and Perri, Francesco
Published: 2023
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5. Genetic and non-genetic risk factors for early-onset pancreatic cancer

Author: Nodari, Ylenia, Gentiluomo, Manuel, Mohelnikova-Duchonova, Beatrice, Kreivenaite, Edita, Milanetto, Anna Caterina, Skieceviciene, Jurgita, Landi, Stefano, Lawlor, Rita T, Petrone, Maria Chiara, Arcidiacono, Paolo Giorgio, Lovecek, Martin, Gazouli, Maria, Bijlsma, Maarten F., Morelli, Luca, Kiudelis, Vytautas, Tacelli, Matteo, Zanette, Dalila Lucíola, Soucek, Pavel, Uzunoglu, Faik, Kaaks, Rudolf, Izbicki, Jakob, Boggi, Ugo, Pezzilli, Raffaele, Mambrini, Andrea, Pasquali, Claudio, van Laarhoven, Hanneke W., Katzke, Verena, Cavestro, Giulia Martina, Sperti, Cosimo, Loos, Martin, Latiano, Anna, Erőss, Bálint, Oliverius, Martin, Johnson, Theron, Basso, Daniela, Neoptolemos, John P., Aoki, Mateus Nóbrega, Greenhalf, William, Vodicka, Pavel, Archibugi, Livia, Vanella, Giuseppe, Lucchesi, Maurizio, Talar-Wojnarowska, Renata, Jamroziak, Krzysztof, Saeedi, Mohammed Al, van Eijck, Casper H.J., Kupcinskas, Juozas, Hussein, Tamás, Puzzono, Marta, Bunduc, Stefania, Götz, Mara, Carrara, Silvia, Szentesi, Andrea, Tavano, Francesca, Moz, Stefania, Hegyi, Péter, Luchini, Claudio, Capurso, Gabriele, Perri, Francesco, Ermini, Stefano, Theodoropoulos, George, Capretti, Giovanni, Palmieri, Orazio, Ginocchi, Laura, Furbetta, Niccolò, Canzian, Federico, and Campa, Daniele
Published: 2023
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6. Dissecting the genetic heterogeneity of gastric cancer

Author: Hess, Timo, Maj, Carlo, Gehlen, Jan, Borisov, Oleg, Haas, Stephan L., Gockel, Ines, Vieth, Michael, Piessen, Guillaume, Alakus, Hakan, Vashist, Yogesh, Pereira, Carina, Knapp, Michael, Schüller, Vitalia, Quaas, Alexander, Grabsch, Heike I., Trautmann, Jessica, Malecka-Wojciesko, Ewa, Mokrowiecka, Anna, Speller, Jan, Mayr, Andreas, Schröder, Julia, Hillmer, Axel M., Heider, Dominik, Lordick, Florian, Pérez-Aísa, Ángeles, Campo, Rafael, Espinel, Jesús, Geijo, Fernando, Thomson, Concha, Bujanda, Luis, Sopeña, Federico, Lanas, Ángel, Pellisé, María, Pauligk, Claudia, Goetze, Thorsten Oliver, Zelck, Carolin, Reingruber, Julian, Hassanin, Emadeldin, Elbe, Peter, Alsabeah, Sandra, Lindblad, Mats, Nilsson, Magnus, Kreuser, Nicole, Thieme, René, Tavano, Francesca, Pastorino, Roberta, Arzani, Dario, Persiani, Roberto, Jung, Jin-On, Nienhüser, Henrik, Ott, Katja, Schumann, Ralf R., Kumpf, Oliver, Burock, Susen, Arndt, Volker, Jakubowska, Anna, Ławniczak, Małgorzta, Moreno, Victor, Martín, Vicente, Kogevinas, Manolis, Pollán, Marina, Dąbrowska, Justyna, Salas, Antonio, Cussenot, Olivier, Boland-Auge, Anne, Daian, Delphine, Deleuze, Jean-Francois, Salvi, Erika, Teder-Laving, Maris, Tomasello, Gianluca, Ratti, Margherita, Senti, Chiara, De Re, Valli, Steffan, Agostino, Hölscher, Arnulf H., Messerle, Katharina, Bruns, Christiane Josephine, Sīviņš, Armands, Bogdanova, Inga, Skieceviciene, Jurgita, Arstikyte, Justina, Moehler, Markus, Lang, Hauke, Grimminger, Peter P., Kruschewski, Martin, Vassos, Nikolaos, Schildberg, Claus, Lingohr, Philipp, Ridwelski, Karsten, Lippert, Hans, Fricker, Nadine, Krawitz, Peter, Hoffmann, Per, Nöthen, Markus M., Veits, Lothar, Izbicki, Jakob R., Mostowska, Adrianna, Martinón-Torres, Federico, Cusi, Daniele, Adolfsson, Rolf, Cancel-Tassin, Geraldine, Höblinger, Aksana, Rodermann, Ernst, Ludwig, Monika, Keller, Gisela, Metspalu, Andres, Brenner, Hermann, Heller, Joerg, Neef, Markus, Schepke, Michael, Dumoulin, Franz Ludwig, Hamann, Lutz, Cannizzaro, Renato, Ghidini, Michele, Plaßmann, Dominik, Geppert, Michael, Malfertheiner, Peter, Gehlen, Olivier, Skoczylas, Tomasz, Majewski, Marek, Lubiński, Jan, Palmieri, Orazio, Boccia, Stefania, Latiano, Anna, Aragones, Nuria, Schmidt, Thomas, Dinis-Ribeiro, Mário, Medeiros, Rui, Al-Batran, Salah-Eddin, Leja, Mārcis, Kupcinskas, Juozas, García-González, María A., Venerito, Marino, and Schumacher, Johannes
Published: 2023
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7. The PANcreatic Disease ReseArch (PANDoRA) consortium: Ten years’ experience of association studies to understand the genetic architecture of pancreatic cancer

Author: Campa, Daniele, Gentiluomo, Manuel, Stein, Angelika, Aoki, Mateus Nóbrega, Oliverius, Martin, Vodičková, Ludmila, Jamroziak, Krzysztof, Theodoropoulos, George, Pasquali, Claudio, Greenhalf, William, Arcidiacono, Paolo Giorgio, Uzunoglu, Faik, Pezzilli, Raffaele, Luchini, Claudio, Puzzono, Marta, Loos, Martin, Giaccherini, Matteo, Katzke, Verena, Mambrini, Andrea, Kiudeliene, Edita, Federico, Kauffmann Emanuele, Johansen, Julia, Hussein, Tamás, Mohelnikova-Duchonova, Beatrice, van Eijck, Casper H.J., Brenner, Hermann, Farinella, Riccardo, Pérez, Juan Sainz, Lovecek, Martin, Büchler, Markus W., Hlavac, Viktor, Izbicki, Jakob R., Hackert, Thilo, Chammas, Roger, Zerbi, Alessandro, Lawlor, Rita, Felici, Alessio, Götz, Mara, Capurso, Gabriele, Ginocchi, Laura, Gazouli, Maria, Kupcinskas, Juozas, Cavestro, Giulia Martina, Vodicka, Pavel, Moz, Stefania, Neoptolemos, John P., Kunovsky, Lumir, Bojesen, Stig E., Carrara, Silvia, Gioffreda, Domenica, Morkunas, Egidijus, Abian, Olga, Bunduc, Stefania, Basso, Daniela, Boggi, Ugo, Wlodarczyk, Barbara, Szentesi, Andrea, Vanella, Giuseppe, Chen, Inna, Bijlsma, Maarten F., Kiudelis, Vytautas, Landi, Stefano, Schöttker, Ben, Corradi, Chiara, Giese, Nathalia, Kaaks, Rudolf, Peduzzi, Giulia, Hegyi, Péter, Morelli, Luca, Furbetta, Niccolò, Soucek, Pavel, Latiano, Anna, Talar-Wojnarowska, Renata, Lindgaard, Sidsel C., Dijk, Frederike, Milanetto, Anna Caterina, Tavano, Francesca, Cervena, Klara, Erőss, Bálint, Testoni, Sabrina G., Verhagen-Oldenampsen, Judith H.E., Małecka-Wojciesko, Ewa, Costello, Eithne, Salvia, Roberto, Maiello, Evaristo, Ermini, Stefano, Sperti, Cosimo, Holleczek, Bernd, Perri, Francesco, Skieceviciene, Jurgita, Archibugi, Livia, Lucchesi, Maurizio, Rizzato, Cosmeri, and Canzian, Federico
Published: 2023
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8. Common variability in oestrogen-related genes and pancreatic ductal adenocarcinoma risk in women

Author: Peduzzi, Giulia, Archibugi, Livia, Katzke, Verena, Gentiluomo, Manuel, Capurso, Gabriele, Milanetto, Anna Caterina, Gazouli, Maria, Goetz, Mara, Brenner, Hermann, Vermeulen, Roel C. H., Talar-Wojnarowska, Renata, Vanella, Giuseppe, Tavano, Francesca, Lucchesi, Maurizio, Mohelnikova-Duchonova, Beatrice, Chen, Xuechen, Kiudelis, Vytautas, Hegyi, Péter, Oliverius, Martin, Stocker, Hannah, Stornello, Caterina, Vodickova, Ludmila, Souček, Pavel, Neoptolemos, John P., Testoni, Sabrina Gloria Giulia, Morelli, Luca, Lawlor, Rita T., Basso, Daniela, Izbicki, Jakob R., Ermini, Stefano, Kupcinskas, Juozas, Pezzilli, Raffaele, Boggi, Ugo, van Laarhoven, Hanneke W. M., Szentesi, Andrea, Erőss, Bálint, Capretti, Giovanni, Schöttker, Ben, Skieceviciene, Jurgita, Aoki, Mateus Nóbrega, van Eijck, Casper H. J., Cavestro, Giulia Martina, Canzian, Federico, and Campa, Daniele
Published: 2022
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9. Inflammatory bowel disease genomics, transcriptomics, proteomics and metagenomics meet artificial intelligence

Author: Cannarozzi, Anna Lucia, Latiano, Anna, Massimino, Luca, Bossa, Fabrizio, Giuliani, Francesco, Riva, Matteo, Ungaro, Federica, Guerra, Maria, Brina, Anna Laura Di, Biscaglia, Giuseppe, Tavano, Francesca, Carparelli, Sonia, Fiorino, Gionata, Danese, Silvio, Perri, Francesco, and Palmieri, Orazio
Abstract: Various extrinsic and intrinsic factors such as drug exposures, antibiotic treatments, smoking, lifestyle, genetics, immune responses, and the gut microbiome characterize ulcerative colitis and Crohn's disease, collectively called inflammatory bowel disease (IBD). All these factors contribute to the complexity and heterogeneity of the disease etiology and pathogenesis leading to major challenges for the scientific community in improving management, medical treatments, genetic risk, and exposome impact. Understanding the interaction(s) among these factors and their effects on the immune system in IBD patients has prompted advances in multi‐omics research, the development of new tools as part of system biology, and more recently, artificial intelligence (AI) approaches. These innovative approaches, supported by the availability of big data and large volumes of digital medical datasets, hold promise in better understanding the natural histories, predictors of disease development, severity, complications and treatment outcomes in complex diseases, providing decision support to doctors, and promising to bring us closer to the realization of the “precision medicine” paradigm. This review aims to provide an overview of current IBD omics based on both individual (genomics, transcriptomics, proteomics, metagenomics) and multi‐omics levels, highlighting how AI can facilitate the integration of heterogeneous data to summarize our current understanding of the disease and to identify current gaps in knowledge to inform upcoming research in this field.
Published: 2024
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10. Impact of the COVID-19 outbreak and the serum prevalence of SARS-CoV-2 antibodies in patients with inflammatory bowel disease treated with biologic drugs

Author: Bossa, Fabrizio, Carparelli, Sonia, Latiano, Anna, Palmieri, Orazio, Tavano, Francesca, Panza, Anna, Pastore, Maria, Marseglia, Antonio, D'Altilia, Mario, Latiano, Tiziana, Corritore, Giuseppe, Martino, Giuseppina, Nardella, Marianna, Guerra, Maria, Terracciano, Fulvia, Sacco, Michele, Perri, Francesco, and Andriulli, Angelo
Published: 2021
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11. False-positive results of SARS-CoV-2 IgM/IgG antibody tests in sera stored before the 2020 pandemic in Italy

Author: Latiano, Anna, Tavano, Francesca, Panza, Anna, Palmieri, Orazio, Niro, Grazia A., Andriulli, Nicola, Latiano, Tiziana, Corritore, Giuseppe, Gioffreda, Domenica, Gentile, Annamaria, Fontana, Rosanna, Guerra, Maria, Biscaglia, Giuseppe, Bossa, Fabrizio, Carella, Massimo, Miscio, Giuseppe, and di Mauro, Lazzaro
Published: 2021
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12. Focus on Achalasia in the Omics Era.

Author: Di Brina, Anna Laura Pia, Palmieri, Orazio, Cannarozzi, Anna Lucia, Tavano, Francesca, Guerra, Maria, Bossa, Fabrizio, Gentile, Marco, Merla, Antonio, Biscaglia, Giuseppe, Cuttitta, Antonello, Perri, Francesco, and Latiano, Anna
Subjects: ESOPHAGOGASTRIC junction, ESOPHAGUS diseases, SCIENTIFIC literature, ESOPHAGEAL achalasia, TRANSCRIPTOMES
Abstract: Achalasia is a rare and complex esophageal disease of unknown etiology characterized by difficulty in swallowing due to the lack of opening of the lower esophageal sphincter and the absence of esophageal peristalsis. Recent advancements in technology for analyzing DNA, RNA and biomolecules in high-throughput techniques are offering new opportunities to better understand the etiology and the pathogenetic mechanisms underlying achalasia. Through this narrative review of the scientific literature, we aim to provide a comprehensive assessment of the state-of-the-art knowledge on omics of achalasia, with particular attention to those considered relevant to the pathogenesis of the disease. The notion and importance of the multi-omics approach, its limitations and future directions are also introduced, and it is highlighted how the integration of single omics data will lead to new insights into the development of achalasia and offer clinical tools which will allow early diagnosis and better patient management. [ABSTRACT FROM AUTHOR]
Published: 2024
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13. Duodenal Fluid Analysis as a Rewarding Approach to Detect Low-Abundance Mutations in Biliopancreatic Cancers.

Author: Tavano, Francesca, Latiano, Anna, Palmieri, Orazio, Gioffreda, Domenica, Latiano, Tiziana, Gentile, Annamaria, Tardio, Matteo, Latiano, Tiziana Pia, Gentile, Marco, Terracciano, Fulvia, and Perri, Francesco
Subjects: *BIOMARKERS, *CELL-free DNA, *TUMOR markers, *NUCLEOTIDE sequencing, *PLASMA sources
Abstract: Diagnosis of biliopancreatic cancers by the available serum tumor markers, imaging, and histopathological tissue specimen examination remains a challenge. Circulating cell-free DNA derived from matched pairs of secretin-stimulated duodenal fluid (DF) and plasma from 10 patients with biliopancreatic diseases and 8 control subjects was analyzed using AmpliSeq™ HD technology for Ion Torrent Next-Generation Sequencing to evaluate the potential of liquid biopsy with DF in biliopancreatic cancers. The median cfDNA concentration was greater in DF-derived than in plasma-derived samples. A total of 13 variants were detected: 11 vs. 1 were exclusive for DF relative to the plasma source, and 1 was shared between the two body fluids. According to the four-tier systems, 10 clinical tier-I–II (76.9%), 1 tier–III (7.7%), and 2 tier–IV (15.4%) variants were identified. Notably, the 11 tier-I-III variants were exclusively found in DF-derived cfDNA from five patients with biliopancreatic cancers, and were detected in seven genes (KRAS, TP53, BRAF, CDKN2A, RNF43, GNAS, and PIK3CA); 82% of the tier-I-III variants had a low abundance, with a VAF < 6%. The mutational profiling of DF seems to be a reliable and promising tool for identifying cancer-associated alterations in malignant cancers of the biliopancreatic tract. [ABSTRACT FROM AUTHOR]
Published: 2024
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14. Lack of association of CD44-rs353630 and CHI3L2-rs684559 with pancreatic ductal adenocarcinoma survival

Author: Gentiluomo, Manuel, Corradi, Chiara, Vanella, Giuseppe, Johansen, Astrid Z., Strobel, Oliver, Szentesi, Andrea, Milanetto, Anna Caterina, Hegyi, Péter, Kupcinskas, Juozas, Tavano, Francesca, Neoptolemos, John P., Bozzato, Dania, Hackert, Thilo, Pezzilli, Raffaele, Johansen, Julia S., Costello, Eithne, Mohelnikova-Duchonova, Beatrice, van Eijck, Casper H. J., Talar-Wojnarowska, Renata, Hansen, Carsten Palnæs, Darvasi, Erika, Chen, Inna M., Cavestro, Giulia Martina, Soucek, Pavel, Piredda, Liliana, Vodicka, Pavel, Gazouli, Maria, Arcidiacono, Paolo Giorgio, Canzian, Federico, Campa, Daniele, and Capurso, Gabriele
Published: 2021
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15. The PSCA-rs2976395 functional variant is associated with pancreatic cancer development

Author: Corradi, Chiara, primary, Lencioni, Giulia, additional, Felici, Alessio, additional, Rizzato, Cosmeri, additional, Gentiluomo, Manuel, additional, Ermini, Stefano, additional, Archibugi, Livia, additional, Mickevicius, Antanas, additional, Lucchesi, Maurizio, additional, Malecka-Wojciesko, Ewa, additional, Basso, Daniela, additional, Arcidiacono, Paolo Giorgio, additional, Petrone, Maria Chiara, additional, Carrara, Silvia, additional, Götz, Mara, additional, Bunduc, Stefania, additional, Holleczek, Bernd, additional, Aoki, Mateus Nóbrega, additional, Uzunoglu, Faik G., additional, Zanette, Dalila Lucíola, additional, Mambrini, Andrea, additional, Jamroziak, Krzysztof, additional, Oliverius, Martin, additional, Lovecek, Martin, additional, Cavestro, Giulia Martina, additional, Milanetto, Anna Caterina, additional, Duchonova, Beatrice Mohelnikova, additional, Izbicki, Jacob R., additional, Zalinkevicius, Rimantas, additional, Hlavac, Viktor, additional, van Eijck, Casper H.J., additional, Brenner, Hermann, additional, Vanella, Giuseppe, additional, Cervena, Klara, additional, Soucek, Pavel, additional, Tavano, Francesca, additional, Perri, Francesco, additional, Capurso, Gabriele, additional, Hussein, Tamas, additional, Kiudelis, Mindaugas, additional, Kupcinskas, Juozas, additional, Busch, Olivier R., additional, Morelli, Luca, additional, Theodoropoulos, George E., additional, Testoni, Sabrina G.G., additional, Adamonis, Kestutis, additional, Neoptolemos, John P., additional, Gazouli, Maria, additional, Pasquali, Claudio, additional, Kormos, Zita, additional, Skalicky, Pavel, additional, Pezzilli, Raffaele, additional, Sperti, Cosimo, additional, Kauffmann, Emanuele, additional, Büchler, Markus W., additional, Schöttker, Ben, additional, Hegyi, Peter, additional, Capretti, Giovanni, additional, Lawlor, Rita T., additional, Canzian, Federico, additional, and Campa, Daniele, additional
Published: 2023
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16. Corrigendum to “Dissecting the genetic heterogeneity of gastric cancer”

Author: Hess, Timo, primary, Maj, Carlo, additional, Gehlen, Jan, additional, Borisov, Oleg, additional, Haas, Stephan L., additional, Gockel, Ines, additional, Vieth, Michael, additional, Piessen, Guillaume, additional, Alakus, Hakan, additional, Vashist, Yogesh, additional, Pereira, Carina, additional, Knapp, Michael, additional, Schüller, Vitalia, additional, Quaas, Alexander, additional, Grabsch, Heike I., additional, Trautmann, Jessica, additional, Malecka-Wojciesko, Ewa, additional, Mokrowiecka, Anna, additional, Speller, Jan, additional, Mayr, Andreas, additional, Schröder, Julia, additional, Hillmer, Axel M., additional, Heider, Dominik, additional, Lordick, Florian, additional, Pérez-Aísa, Ángeles, additional, Campo, Rafael, additional, Espinel, Jesús, additional, Geijo, Fernando, additional, Thomson, Concha, additional, Bujanda, Luis, additional, Sopeña, Federico, additional, Lanas, Ángel, additional, Pellisé, María, additional, Pauligk, Claudia, additional, Goetze, Thorsten Oliver, additional, Zelck, Carolin, additional, Reingruber, Julian, additional, Hassanin, Emadeldin, additional, Elbe, Peter, additional, Alsabeah, Sandra, additional, Lindblad, Mats, additional, Nilsson, Magnus, additional, Kreuser, Nicole, additional, Thieme, René, additional, Tavano, Francesca, additional, Pastorino, Roberta, additional, Arzani, Dario, additional, Persiani, Roberto, additional, Jung, Jin-On, additional, Nienhüser, Henrik, additional, Ott, Katja, additional, Schumann, Ralf R., additional, Kumpf, Oliver, additional, Burock, Susen, additional, Arndt, Volker, additional, Jakubowska, Anna, additional, Ławniczak, Małgorzta, additional, Moreno, Victor, additional, Martín, Vicente, additional, Kogevinas, Manolis, additional, Pollán, Marina, additional, Dąbrowska, Justyna, additional, Salas, Antonio, additional, Cussenot, Olivier, additional, Boland-Auge, Anne, additional, Daian, Delphine, additional, Deleuze, Jean-Francois, additional, Salvi, Erika, additional, Teder-Laving, Maris, additional, Tomasello, Gianluca, additional, Ratti, Margherita, additional, Senti, Chiara, additional, De Re, Valli, additional, Steffan, Agostino, additional, Hölscher, Arnulf H., additional, Messerle, Katharina, additional, Bruns, Christiane Josephine, additional, Sīviņš, Armands, additional, Bogdanova, Inga, additional, Skieceviciene, Jurgita, additional, Arstikyte, Justina, additional, Moehler, Markus, additional, Lang, Hauke, additional, Grimminger, Peter P., additional, Kruschewski, Martin, additional, Vassos, Nikolaos, additional, Schildberg, Claus, additional, Lingohr, Philipp, additional, Ridwelski, Karsten, additional, Lippert, Hans, additional, Fricker, Nadine, additional, Krawitz, Peter, additional, Hoffmann, Per, additional, Nöthen, Markus M., additional, Veits, Lothar, additional, Izbicki, Jakob R., additional, Mostowska, Adrianna, additional, Martinón-Torres, Federico, additional, Cusi, Daniele, additional, Adolfsson, Rolf, additional, Cancel-Tassin, Geraldine, additional, Höblinger, Aksana, additional, Rodermann, Ernst, additional, Ludwig, Monika, additional, Keller, Gisela, additional, Metspalu, Andres, additional, Brenner, Hermann, additional, Heller, Joerg, additional, Neef, Markus, additional, Schepke, Michael, additional, Dumoulin, Franz Ludwig, additional, Hamann, Lutz, additional, Cannizzaro, Renato, additional, Ghidini, Michele, additional, Plaßmann, Dominik, additional, Geppert, Michael, additional, Malfertheiner, Peter, additional, Glehen, Olivier, additional, Skoczylas, Tomasz, additional, Majewski, Marek, additional, Lubiński, Jan, additional, Palmieri, Orazio, additional, Boccia, Stefania, additional, Latiano, Anna, additional, Aragones, Nuria, additional, Schmidt, Thomas, additional, Dinis-Ribeiro, Mário, additional, Medeiros, Rui, additional, Al-Batran, Salah-Eddin, additional, Leja, Mārcis, additional, Kupcinskas, Juozas, additional, García-González, María A., additional, Venerito, Marino, additional, and Schumacher, Johannes, additional
Published: 2023
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17. A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma

Author: Giaccherini, Matteo, primary, Gori, Leonardo, additional, Gentiluomo, Manuel, additional, Farinella, Riccardo, additional, Cervena, Klara, additional, Skieceviciene, Jurgita, additional, Dijk, Frederike, additional, Capurso, Gabriele, additional, Vezakis, Antonis, additional, Archibugi, Livia, additional, Chammas, Roger, additional, Hussein, Tamás, additional, Tavano, Francesca, additional, Hegyi, Péter, additional, Lovecek, Martin, additional, Izbicki, Jakob R, additional, Brenner, Hermann, additional, Mohelnikova-Duchonova, Beatrice, additional, Dell’Anna, Giuseppe, additional, Kupcinskas, Juozas, additional, Ermini, Stefano, additional, Aoki, Mateus Nóbrega, additional, Neoptolemos, John P, additional, Gazouli, Maria, additional, Pasquali, Claudio, additional, Pezzilli, Raffaele, additional, Talar-Wojnarowska, Renata, additional, Oliverius, Martin, additional, Al-Saeedi, Mohammed, additional, Lucchesi, Maurizio, additional, Furbetta, Niccolò, additional, Carrara, Silvia, additional, van Eijck, Casper H J, additional, Maleckas, Almantas, additional, Milanetto, Anna Caterina, additional, Lawlor, Rita T, additional, Schöttker, Ben, additional, Boggi, Ugo, additional, Morelli, Luca, additional, Ginocchi, Laura, additional, Ponz de Leon Pisani, Ruggero, additional, Sperti, Cosimo, additional, Zerbi, Alessandro, additional, Arcidiacono, Paolo Giorgio, additional, Uzunoglu, Faik G, additional, Bunduc, Stefania, additional, Holleczek, Bernd, additional, Gioffreda, Domenica, additional, Małecka-Wojciesko, Ewa, additional, Kiudelis, Mindaugas, additional, Szentesi, Andrea, additional, van Laarhoven, Hanneke W M, additional, Soucek, Pavel, additional, Götz, Mara, additional, Erőss, Bálint, additional, Cavestro, Giulia Martina, additional, Basso, Daniela, additional, Perri, Francesco, additional, Landi, Stefano, additional, Canzian, Federico, additional, and Campa, Daniele, additional
Published: 2023
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18. Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms

Author: Giaccherini, Matteo, Macauda, Angelica, Sgherza, Nicola, Sainz, Juan, Gemignani, Federica, Maldonado, Josè Manuel Sanchez, Jurado, Manuel, Tavano, Francesca, Mazur, Grzegorz, Jerez, Andrés, Góra-Tybor, Joanna, Gołos, Aleksandra, Mohedo, Francisca Hernández, Lopez, Joaquin Martinez, Várkonyi, Judit, Spadano, Raffaele, Butrym, Aleksandra, Canzian, Federico, and Campa, Daniele
Published: 2020
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19. Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma

Author: Corradi, Chiara, primary, Lencioni, Giulia, additional, Gentiluomo, Manuel, additional, Felici, Alessio, additional, Latiano, Anna, additional, Kiudelis, Gediminas, additional, van Eijck, Casper H J, additional, Marta, Katalin, additional, Lawlor, Rita T, additional, Tavano, Francesca, additional, Boggi, Ugo, additional, Dijk, Frederike, additional, Cavestro, Giulia Martina, additional, Vermeulen, Roel C H, additional, Hackert, Thilo, additional, Petrone, Maria Chiara, additional, Uzunoğlu, Faik Güntac, additional, Archibugi, Livia, additional, Izbicki, Jakob R, additional, Morelli, Luca, additional, Zerbi, Alessandro, additional, Landi, Stefano, additional, Stocker, Hannah, additional, Talar-Wojnarowska, Renata, additional, Di Franco, Gregorio, additional, Hegyi, Péter, additional, Sperti, Cosimo, additional, Carrara, Silvia, additional, Capurso, Gabriele, additional, Gazouli, Maria, additional, Brenner, Hermann, additional, Bunduc, Stefania, additional, Busch, Olivier, additional, Perri, Francesco, additional, Oliverius, Martin, additional, Hegyi, Péter Jeno, additional, Goetz, Mara, additional, Scognamiglio, Pasquale, additional, Mambrini, Andrea, additional, Arcidiacono, Paolo Giorgio, additional, Kreivenaite, Edita, additional, Kupcinskas, Juozas, additional, Hussein, Tamas, additional, Ermini, Stefano, additional, Milanetto, Anna Caterina, additional, Vodicka, Pavel, additional, Kiudelis, Vytautas, additional, Hlaváč, Viktor, additional, Soucek, Pavel, additional, Theodoropoulos, George E, additional, Basso, Daniela, additional, Neoptolemos, John P, additional, Nóbrega Aoki, Mateus, additional, Pezzilli, Raffaele, additional, Pasquali, Claudio, additional, Chammas, Roger, additional, Testoni, Sabrina Gloria Giulia, additional, Mohelnikova-Duchonova, Beatrice, additional, Lucchesi, Maurizio, additional, Rizzato, Cosmeri, additional, Canzian, Federico, additional, and Campa, Daniele, additional
Published: 2023
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20. Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma

Author: Corradi, Chiara, Lencioni, Giulia, Gentiluomo, Manuel, Felici, Alessio, Latiano, Anna, Kiudelis, Gediminas, van Eijck, Casper H J, Marta, Katalin, Lawlor, Rita T, Tavano, Francesca, Boggi, Ugo, Dijk, Frederike, Cavestro, Giulia Martina, Vermeulen, Roel C H, Hackert, Thilo, Petrone, Maria Chiara, Uzunoğlu, Faik Güntac, Archibugi, Livia, Izbicki, Jakob R, Morelli, Luca, Zerbi, Alessandro, Landi, Stefano, Stocker, Hannah, Talar-Wojnarowska, Renata, Di Franco, Gregorio, Hegyi, Péter, Sperti, Cosimo, Carrara, Silvia, Capurso, Gabriele, Gazouli, Maria, Brenner, Hermann, Bunduc, Stefania, Busch, Olivier, Perri, Francesco, Oliverius, Martin, Hegyi, Péter Jeno, Goetz, Mara, Scognamiglio, Pasquale, Mambrini, Andrea, Arcidiacono, Paolo Giorgio, Kreivenaite, Edita, Kupcinskas, Juozas, Hussein, Tamas, Ermini, Stefano, Milanetto, Anna Caterina, Vodicka, Pavel, Kiudelis, Vytautas, Hlaváč, Viktor, Soucek, Pavel, Theodoropoulos, George E, Basso, Daniela, Neoptolemos, John P, Nóbrega Aoki, Mateus, Pezzilli, Raffaele, Pasquali, Claudio, Chammas, Roger, Testoni, Sabrina Gloria Giulia, Mohelnikova-Duchonova, Beatrice, Lucchesi, Maurizio, Rizzato, Cosmeri, Canzian, Federico, Campa, Daniele, Corradi, Chiara, Lencioni, Giulia, Gentiluomo, Manuel, Felici, Alessio, Latiano, Anna, Kiudelis, Gediminas, van Eijck, Casper H J, Marta, Katalin, Lawlor, Rita T, Tavano, Francesca, Boggi, Ugo, Dijk, Frederike, Cavestro, Giulia Martina, Vermeulen, Roel C H, Hackert, Thilo, Petrone, Maria Chiara, Uzunoğlu, Faik Güntac, Archibugi, Livia, Izbicki, Jakob R, Morelli, Luca, Zerbi, Alessandro, Landi, Stefano, Stocker, Hannah, Talar-Wojnarowska, Renata, Di Franco, Gregorio, Hegyi, Péter, Sperti, Cosimo, Carrara, Silvia, Capurso, Gabriele, Gazouli, Maria, Brenner, Hermann, Bunduc, Stefania, Busch, Olivier, Perri, Francesco, Oliverius, Martin, Hegyi, Péter Jeno, Goetz, Mara, Scognamiglio, Pasquale, Mambrini, Andrea, Arcidiacono, Paolo Giorgio, Kreivenaite, Edita, Kupcinskas, Juozas, Hussein, Tamas, Ermini, Stefano, Milanetto, Anna Caterina, Vodicka, Pavel, Kiudelis, Vytautas, Hlaváč, Viktor, Soucek, Pavel, Theodoropoulos, George E, Basso, Daniela, Neoptolemos, John P, Nóbrega Aoki, Mateus, Pezzilli, Raffaele, Pasquali, Claudio, Chammas, Roger, Testoni, Sabrina Gloria Giulia, Mohelnikova-Duchonova, Beatrice, Lucchesi, Maurizio, Rizzato, Cosmeri, Canzian, Federico, and Campa, Daniele
Abstract: INTRODUCTION: Only a small number of risk factors for pancreatic ductal adenocarcinoma (PDAC) has been established. Several studies identified a role of epigenetics and of deregulation of DNA methylation. DNA methylation is variable across a lifetime and in different tissues; nevertheless, its levels can be regulated by genetic variants like methylation quantitative trait loci (mQTLs), which can be used as a surrogate.MATERIALS AND METHODS: We scanned the whole genome for mQTLs and performed an association study in 14 705 PDAC cases and 246 921 controls. The methylation data were obtained from whole blood and pancreatic cancer tissue through online databases. We used the Pancreatic Cancer Cohort Consortium and the Pancreatic Cancer Case-Control Consortium genome-wide association study (GWAS) data as discovery phase and the Pancreatic Disease Research consortium, the FinnGen project and the Japan Pancreatic Cancer Research consortium GWAS as replication phase.RESULTS: The C allele of 15q26.1-rs12905855 showed an association with a decreased risk of PDAC (OR=0.90, 95% CI 0.87 to 0.94, p=4.93×10 -8 in the overall meta-analysis), reaching genome-level statistical significance. 15q26.1-rs12905855 decreases the methylation of a 'C-phosphate-G' (CpG) site located in the promoter region of the RCCD1 antisense ( RCCD1-AS1) gene which, when expressed, decreases the expression of the RCC1 domain-containing ( RCCD1) gene (part of a histone demethylase complex). Thus, it is possible that the rs12905855 C-allele has a protective role in PDAC development through an increase of RCCD1 gene expression, made possible by the inactivity of RCCD1-AS1. CONCLUSION: We identified a novel PDAC risk locus which modulates cancer risk by controlling gene expression through DNA methylation.
Published: 2023

21. Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk

Author: Giaccherini, Matteo, Farinella, Riccardo, Gentiluomo, Manuel, Mohelnikova-Duchonova, Beatrice, Kauffmann, Emanuele Federico, Palmeri, Matteo, Uzunoglu, Faik, Soucek, Pavel, Petrauskas, Dalius, Cavestro, Giulia Martina, Zykus, Romanas, Carrara, Silvia, Pezzilli, Raffaele, Puzzono, Marta, Szentesi, Andrea, Neoptolemos, John, Archibugi, Livia, Palmieri, Orazio, Milanetto, Anna Caterina, Capurso, Gabriele, van Eijck, Casper H.J., Stocker, Hannah, Lawlor, Rita T., Vodicka, Pavel, Lovecek, Martin, Izbicki, Jakob R., Perri, Francesco, Kupcinskaite-Noreikiene, Rita, Götz, Mara, Kupcinskas, Juozas, Hussein, Tamás, Hegyi, Péter, Busch, Olivier R., Hackert, Thilo, Mambrini, Andrea, Brenner, Hermann, Lucchesi, Maurizio, Basso, Daniela, Tavano, Francesca, Schöttker, Ben, Vanella, Giuseppe, Bunduc, Stefania, Petrányi, Ágota, Landi, Stefano, Morelli, Luca, Canzian, Federico, Campa, Daniele, Giaccherini, Matteo, Farinella, Riccardo, Gentiluomo, Manuel, Mohelnikova-Duchonova, Beatrice, Kauffmann, Emanuele Federico, Palmeri, Matteo, Uzunoglu, Faik, Soucek, Pavel, Petrauskas, Dalius, Cavestro, Giulia Martina, Zykus, Romanas, Carrara, Silvia, Pezzilli, Raffaele, Puzzono, Marta, Szentesi, Andrea, Neoptolemos, John, Archibugi, Livia, Palmieri, Orazio, Milanetto, Anna Caterina, Capurso, Gabriele, van Eijck, Casper H.J., Stocker, Hannah, Lawlor, Rita T., Vodicka, Pavel, Lovecek, Martin, Izbicki, Jakob R., Perri, Francesco, Kupcinskaite-Noreikiene, Rita, Götz, Mara, Kupcinskas, Juozas, Hussein, Tamás, Hegyi, Péter, Busch, Olivier R., Hackert, Thilo, Mambrini, Andrea, Brenner, Hermann, Lucchesi, Maurizio, Basso, Daniela, Tavano, Francesca, Schöttker, Ben, Vanella, Giuseppe, Bunduc, Stefania, Petrányi, Ágota, Landi, Stefano, Morelli, Luca, Canzian, Federico, and Campa, Daniele
Abstract: Genes carrying high-penetrance germline mutations may also be associated with cancer susceptibility through common low-penetrance genetic variants. To increase the knowledge on genetic pancreatic ductal adenocarcinoma (PDAC) aetiology, the common genetic variability of PDAC familial genes was analysed in our study. We conducted a multiphase study analysing 7745 single nucleotide polymorphisms (SNPs) from 29 genes reported to harbour a high-penetrance PDAC-associated mutation in at least one published study. To assess the effect of the SNPs on PDAC risk, a total of 14 666 PDAC cases and 221 897 controls across five different studies were analysed. The T allele of the rs1412832 polymorphism, that is situated in the CDKN2B-AS1/ANRIL, showed a genome-wide significant association with increased risk of developing PDAC (OR = 1.11, 95% CI = 1.07-1.15, P = 5.25 × 10−9). CDKN2B-AS1/ANRIL is a long noncoding RNA, situated in 9p21.3, and regulates many target genes, among which CDKN2A (p16) that frequently shows deleterious somatic and germline mutations and deregulation in PDAC. Our results strongly support the role of the genetic variability of the 9p21.3 region in PDAC aetiopathogenesis and highlight the importance of secondary analysis as a tool for discovering new risk loci in complex human diseases.
Published: 2023

22. The PANcreatic Disease ReseArch (PANDoRA) consortium:Ten years’ experience of association studies to understand the genetic architecture of pancreatic cancer

Author: Campa, Daniele, Gentiluomo, Manuel, Stein, Angelika, Aoki, Mateus Nóbrega, Oliverius, Martin, Vodičková, Ludmila, Jamroziak, Krzysztof, Theodoropoulos, George, Pasquali, Claudio, Greenhalf, William, Arcidiacono, Paolo Giorgio, Uzunoglu, Faik, Pezzilli, Raffaele, Luchini, Claudio, Puzzono, Marta, Loos, Martin, Giaccherini, Matteo, Katzke, Verena, Mambrini, Andrea, Kiudeliene, Edita, Federico, Kauffmann Emanuele, Johansen, Julia, Hussein, Tamás, Mohelnikova-Duchonova, Beatrice, van Eijck, Casper H.J., Brenner, Hermann, Farinella, Riccardo, Pérez, Juan Sainz, Lovecek, Martin, Büchler, Markus W., Hlavac, Viktor, Izbicki, Jakob R., Hackert, Thilo, Chammas, Roger, Zerbi, Alessandro, Lawlor, Rita, Felici, Alessio, Götz, Mara, Capurso, Gabriele, Ginocchi, Laura, Gazouli, Maria, Kupcinskas, Juozas, Cavestro, Giulia Martina, Vodicka, Pavel, Moz, Stefania, Neoptolemos, John P., Kunovsky, Lumir, Bojesen, Stig E., Carrara, Silvia, Gioffreda, Domenica, Morkunas, Egidijus, Abian, Olga, Bunduc, Stefania, Basso, Daniela, Boggi, Ugo, Wlodarczyk, Barbara, Szentesi, Andrea, Vanella, Giuseppe, Chen, Inna, Bijlsma, Maarten F., Kiudelis, Vytautas, Landi, Stefano, Schöttker, Ben, Corradi, Chiara, Giese, Nathalia, Kaaks, Rudolf, Peduzzi, Giulia, Hegyi, Péter, Morelli, Luca, Furbetta, Niccolò, Soucek, Pavel, Latiano, Anna, Talar-Wojnarowska, Renata, Lindgaard, Sidsel C., Dijk, Frederike, Milanetto, Anna Caterina, Tavano, Francesca, Cervena, Klara, Erőss, Bálint, Testoni, Sabrina G., Verhagen-Oldenampsen, Judith H.E., Małecka-Wojciesko, Ewa, Costello, Eithne, Salvia, Roberto, Maiello, Evaristo, Ermini, Stefano, Sperti, Cosimo, Holleczek, Bernd, Perri, Francesco, Skieceviciene, Jurgita, Archibugi, Livia, Lucchesi, Maurizio, Rizzato, Cosmeri, Canzian, Federico, Campa, Daniele, Gentiluomo, Manuel, Stein, Angelika, Aoki, Mateus Nóbrega, Oliverius, Martin, Vodičková, Ludmila, Jamroziak, Krzysztof, Theodoropoulos, George, Pasquali, Claudio, Greenhalf, William, Arcidiacono, Paolo Giorgio, Uzunoglu, Faik, Pezzilli, Raffaele, Luchini, Claudio, Puzzono, Marta, Loos, Martin, Giaccherini, Matteo, Katzke, Verena, Mambrini, Andrea, Kiudeliene, Edita, Federico, Kauffmann Emanuele, Johansen, Julia, Hussein, Tamás, Mohelnikova-Duchonova, Beatrice, van Eijck, Casper H.J., Brenner, Hermann, Farinella, Riccardo, Pérez, Juan Sainz, Lovecek, Martin, Büchler, Markus W., Hlavac, Viktor, Izbicki, Jakob R., Hackert, Thilo, Chammas, Roger, Zerbi, Alessandro, Lawlor, Rita, Felici, Alessio, Götz, Mara, Capurso, Gabriele, Ginocchi, Laura, Gazouli, Maria, Kupcinskas, Juozas, Cavestro, Giulia Martina, Vodicka, Pavel, Moz, Stefania, Neoptolemos, John P., Kunovsky, Lumir, Bojesen, Stig E., Carrara, Silvia, Gioffreda, Domenica, Morkunas, Egidijus, Abian, Olga, Bunduc, Stefania, Basso, Daniela, Boggi, Ugo, Wlodarczyk, Barbara, Szentesi, Andrea, Vanella, Giuseppe, Chen, Inna, Bijlsma, Maarten F., Kiudelis, Vytautas, Landi, Stefano, Schöttker, Ben, Corradi, Chiara, Giese, Nathalia, Kaaks, Rudolf, Peduzzi, Giulia, Hegyi, Péter, Morelli, Luca, Furbetta, Niccolò, Soucek, Pavel, Latiano, Anna, Talar-Wojnarowska, Renata, Lindgaard, Sidsel C., Dijk, Frederike, Milanetto, Anna Caterina, Tavano, Francesca, Cervena, Klara, Erőss, Bálint, Testoni, Sabrina G., Verhagen-Oldenampsen, Judith H.E., Małecka-Wojciesko, Ewa, Costello, Eithne, Salvia, Roberto, Maiello, Evaristo, Ermini, Stefano, Sperti, Cosimo, Holleczek, Bernd, Perri, Francesco, Skieceviciene, Jurgita, Archibugi, Livia, Lucchesi, Maurizio, Rizzato, Cosmeri, and Canzian, Federico
Abstract: Pancreatic cancer has an incidence that almost matches its mortality. Only a small number of risk factors and 33 susceptibility loci have been identified. so Moreover, the relative rarity of pancreatic cancer poses significant hurdles for research aimed at increasing our knowledge of the genetic mechanisms contributing to the disease. Additionally, the inability to adequately power research questions prevents small monocentric studies from being successful. Several consortia have been established to pursue a better understanding of the genetic architecture of pancreatic cancers. The Pancreatic disease research (PANDoRA) consortium is the largest in Europe. PANDoRA is spread across 12 European countries, Brazil and Japan, bringing together 29 basic and clinical research groups. In the last ten years, PANDoRA has contributed to the discovery of 25 susceptibility loci, a feat that will be instrumental in stratifying the population by risk and optimizing preventive strategies., Pancreatic cancer has an incidence that almost matches its mortality. Only a small number of risk factors and 33 susceptibility loci have been identified. so Moreover, the relative rarity of pancreatic cancer poses significant hurdles for research aimed at increasing our knowledge of the genetic mechanisms contributing to the disease. Additionally, the inability to adequately power research questions prevents small monocentric studies from being successful. Several consortia have been established to pursue a better understanding of the genetic architecture of pancreatic cancers. The Pancreatic disease research (PANDoRA) consortium is the largest in Europe. PANDoRA is spread across 12 European countries, Brazil and Japan, bringing together 29 basic and clinical research groups. In the last ten years, PANDoRA has contributed to the discovery of 25 susceptibility loci, a feat that will be instrumental in stratifying the population by risk and optimizing preventive strategies.
Published: 2023

23. Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma

Author: IRAS OH Epidemiology Chemical Agents, IRAS – One Health Chemical, Corradi, Chiara, Lencioni, Giulia, Gentiluomo, Manuel, Felici, Alessio, Latiano, Anna, Kiudelis, Gediminas, van Eijck, Casper H J, Marta, Katalin, Lawlor, Rita T, Tavano, Francesca, Boggi, Ugo, Dijk, Frederike, Cavestro, Giulia Martina, Vermeulen, Roel C H, Hackert, Thilo, Petrone, Maria Chiara, Uzunoğlu, Faik Güntac, Archibugi, Livia, Izbicki, Jakob R, Morelli, Luca, Zerbi, Alessandro, Landi, Stefano, Stocker, Hannah, Talar-Wojnarowska, Renata, Di Franco, Gregorio, Hegyi, Péter, Sperti, Cosimo, Carrara, Silvia, Capurso, Gabriele, Gazouli, Maria, Brenner, Hermann, Bunduc, Stefania, Busch, Olivier, Perri, Francesco, Oliverius, Martin, Hegyi, Péter Jeno, Goetz, Mara, Scognamiglio, Pasquale, Mambrini, Andrea, Arcidiacono, Paolo Giorgio, Kreivenaite, Edita, Kupcinskas, Juozas, Hussein, Tamas, Ermini, Stefano, Milanetto, Anna Caterina, Vodicka, Pavel, Kiudelis, Vytautas, Hlaváč, Viktor, Soucek, Pavel, Theodoropoulos, George E, Basso, Daniela, Neoptolemos, John P, Nóbrega Aoki, Mateus, Pezzilli, Raffaele, Pasquali, Claudio, Chammas, Roger, Testoni, Sabrina Gloria Giulia, Mohelnikova-Duchonova, Beatrice, Lucchesi, Maurizio, Rizzato, Cosmeri, Canzian, Federico, Campa, Daniele, IRAS OH Epidemiology Chemical Agents, IRAS – One Health Chemical, Corradi, Chiara, Lencioni, Giulia, Gentiluomo, Manuel, Felici, Alessio, Latiano, Anna, Kiudelis, Gediminas, van Eijck, Casper H J, Marta, Katalin, Lawlor, Rita T, Tavano, Francesca, Boggi, Ugo, Dijk, Frederike, Cavestro, Giulia Martina, Vermeulen, Roel C H, Hackert, Thilo, Petrone, Maria Chiara, Uzunoğlu, Faik Güntac, Archibugi, Livia, Izbicki, Jakob R, Morelli, Luca, Zerbi, Alessandro, Landi, Stefano, Stocker, Hannah, Talar-Wojnarowska, Renata, Di Franco, Gregorio, Hegyi, Péter, Sperti, Cosimo, Carrara, Silvia, Capurso, Gabriele, Gazouli, Maria, Brenner, Hermann, Bunduc, Stefania, Busch, Olivier, Perri, Francesco, Oliverius, Martin, Hegyi, Péter Jeno, Goetz, Mara, Scognamiglio, Pasquale, Mambrini, Andrea, Arcidiacono, Paolo Giorgio, Kreivenaite, Edita, Kupcinskas, Juozas, Hussein, Tamas, Ermini, Stefano, Milanetto, Anna Caterina, Vodicka, Pavel, Kiudelis, Vytautas, Hlaváč, Viktor, Soucek, Pavel, Theodoropoulos, George E, Basso, Daniela, Neoptolemos, John P, Nóbrega Aoki, Mateus, Pezzilli, Raffaele, Pasquali, Claudio, Chammas, Roger, Testoni, Sabrina Gloria Giulia, Mohelnikova-Duchonova, Beatrice, Lucchesi, Maurizio, Rizzato, Cosmeri, Canzian, Federico, and Campa, Daniele
Published: 2023

24. Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene

Author: Micale, Lucia, primary, Fusco, Carmela, additional, Nardella, Grazia, additional, Palmieri, Orazio, additional, Latiano, Tiziana, additional, Gioffreda, Domenica, additional, Tavano, Francesca, additional, Panza, Anna, additional, Merla, Antonio, additional, Biscaglia, Giuseppe, additional, Gentile, Marco, additional, Cuttitta, Antonello, additional, Castori, Marco, additional, Perri, Francesco, additional, and Latiano, Anna, additional
Published: 2022
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25. Association between a polymorphic variant in the CDKN2B‐AS1/ANRIL gene and pancreatic cancer risk

Author: Giaccherini, Matteo, primary, Farinella, Riccardo, additional, Gentiluomo, Manuel, additional, Mohelnikova‐Duchonova, Beatrice, additional, Kauffmann, Emanuele Federico, additional, Palmeri, Matteo, additional, Uzunoglu, Faik, additional, Soucek, Pavel, additional, Petrauskas, Dalius, additional, Cavestro, Giulia Martina, additional, Zykus, Romanas, additional, Carrara, Silvia, additional, Pezzilli, Raffaele, additional, Puzzono, Marta, additional, Szentesi, Andrea, additional, Neoptolemos, John, additional, Archibugi, Livia, additional, Palmieri, Orazio, additional, Milanetto, Anna Caterina, additional, Capurso, Gabriele, additional, van Eijck, Casper H. J., additional, Stocker, Hannah, additional, Lawlor, Rita T., additional, Vodicka, Pavel, additional, Lovecek, Martin, additional, Izbicki, Jakob R., additional, Perri, Francesco, additional, Kupcinskaite‐Noreikiene, Rita, additional, Götz, Mara, additional, Kupcinskas, Juozas, additional, Hussein, Tamás, additional, Hegyi, Péter, additional, Busch, Olivier R., additional, Hackert, Thilo, additional, Mambrini, Andrea, additional, Brenner, Hermann, additional, Lucchesi, Maurizio, additional, Basso, Daniela, additional, Tavano, Francesca, additional, Schöttker, Ben, additional, Vanella, Giuseppe, additional, Bunduc, Stefania, additional, Petrányi, Ágota, additional, Landi, Stefano, additional, Morelli, Luca, additional, Canzian, Federico, additional, and Campa, Daniele, additional
Published: 2022
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26. Common genetic variants associated with pancreatic adenocarcinoma may also modify risk of pancreatic neuroendocrine neoplasms

Author: Obazee, Ofure, Capurso, Gabriele, Tavano, Francesca, Archibugi, Livia, De Bonis, Antonio, Greenhalf, William, Key, Tim, Pasquali, Claudio, Milanetto, Anna Caterina, Hackert, Thilo, Fogar, Paola, Liço, Valbona, Dervenis, Christos, Lawlor, Rita T, Landoni, Luca, Gazouli, Maria, Zambon, Carlo Federico, Funel, Niccola, Strobel, Oliver, Jamroziak, Krzysztof, Cantù, Cinzia, Małecka-Panas, Ewa, Landi, Stefano, Neoptolemos, John P, Basso, Daniela, Talar-Wojnarowska, Renata, Rinzivillo, Maria, Andriulli, Angelo, Canzian, Federico, and Campa, Daniele
Published: 2018
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27. Droplet digital PCR quantification of miR-1290 as a circulating biomarker for pancreatic cancer

Author: Tavano, Francesca, Gioffreda, Domenica, Valvano, Maria R., Palmieri, Orazio, Tardio, Matteo, Latiano, Tiziana P., Piepoli, Ada, Maiello, Evaristo, Pirozzi, Felice, and Andriulli, Angelo
Published: 2018
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28. Genetic variants of membrane metallopeptidase genes in inflammatory bowel diseases

Author: Tavano, Francesca, Palmieri, Orazio, di Mola, Fabio Francesco, Latiano, Anna, Burbaci, Francesca Paola, Valvano, Maria Rosa, Corritore, Giuseppe, Augello, Bartolomeo, Merla, Giuseppe, Annese, Vito, Andriulli, Angelo, and di Sebastiano, Pierluigi
Published: 2013
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29. Interplay between SOX9, β-catenin and PPARγ activation in colorectal cancer

Author: Panza, Anna, Pazienza, Valerio, Ripoli, Maria, Benegiamo, Giorgia, Gentile, Annamaria, Valvano, Maria Rosaria, Augello, Bartolomeo, Merla, Giuseppe, Prattichizzo, Clelia, Tavano, Francesca, Ranieri, Elena, Sebastiano, Pierluigi di, Vinciguerra, Manlio, Andriulli, Angelo, Mazzoccoli, Gianluigi, and Piepoli, Ada
Published: 2013
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30. Genetic susceptibility to pancreatic cancer and its functional characterisation: The PANcreatic Disease ReseArch (PANDoRA) consortium

Author: Campa, Daniele, Rizzato, Cosmeri, Capurso, Gabriele, Giese, Nathalia, Funel, Niccola, Greenhalf, William, Soucek, Pavel, Gazouli, Maria, Pezzilli, Raffaele, Pasquali, Claudio, Talar-Wojnarowska, Renata, Cantore, Maurizio, Andriulli, Angelo, Scarpa, Aldo, Jamroziak, Krzysztof, Fave, Gianfranco Delle, Costello, Eithne, Khaw, Kay-Tee, Heller, Anette, Key, Tim J., Theodoropoulos, George, Malecka-Panas, Ewa, Mambrini, Andrea, Bambi, Franco, Landi, Stefano, Pedrazzoli, Sergio, Bassi, Claudio, Pacetti, Paola, Piepoli, Ada, Tavano, Francesca, di Sebastiano, Pierluigi, Vodickova, Ludmila, Basso, Daniela, Plebani, Mario, Fogar, Paola, Büchler, Markus W., Bugert, Peter, Vodicka, Pavel, Boggi, Ugo, Neoptolemos, John P., Werner, Jens, and Canzian, Federico
Published: 2013
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31. Do pancreatic cancer and chronic pancreatitis share the same genetic risk factors? A PANcreatic Disease ReseArch (PANDoRA) consortium investigation

Author: Campa, Daniele, Pastore, Manuela, Capurso, Gabriele, Hackert, Thilo, Di Leo, Milena, Izbicki, Jakob R., Khaw, Kay‐Tee, Gioffreda, Domenica, Kupcinskas, Juozas, Pasquali, Claudio, Macinga, Peter, Kaaks, Rudolf, Stigliano, Serena, Peeters, Petra H., Key, Timothy J., Talar‐Wojnarowska, Renata, Vodicka, Pavel, Valente, Roberto, Vashist, Yogesh K., Salvia, Roberto, Papaconstantinou, Ioannis, Shimizu, Yasuhiro, Valsuani, Chiara, Zambon, Carlo Federico, Gazouli, Maria, Valantiene, Irena, Niesen, Willem, Mohelnikova‐Duchonova, Beatrice, Hara, Kazuo, Soucek, Pavel, Malecka‐Panas, Ewa, Bueno‐de‐Mesquita, H. B(as), Johnson, Theron, Brenner, Herman, Tavano, Francesca, Fogar, Paola, Ito, Hidemi, Sperti, Cosimo, Butterbach, Katja, Latiano, Anna, Andriulli, Angelo, Cavestro, Giulia Martina, Busch, Olivier R.C., Dijk, Frederike, Greenhalf, William, Matsuo, Keitaro, Lombardo, Carlo, Strobel, Oliver, König, Anna‐Katharina, Cuk, Katarina, Strothmann, Hendrik, Katzke, Verena, Cantore, Maurizio, Mambrini, Andrea, Oliverius, Martin, Pezzilli, Raffaele, Landi, Stefano, and Canzian, Federico
Published: 2018
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32. Cancer sniffer dogs: how can we translate this peculiarity in laboratory medicine? Results of a pilot study on gastrointestinal cancers

Author: Panebianco, Concetta, Kelman, Edgar, Vene, Kristel, Gioffreda, Domenica, Tavano, Francesca, Vilu, Raivo, Terracciano, Fulvia, Pata, Illar, Adamberg, Kaarel, Andriulli, Angelo, and Pazienza, Valerio
Published: 2018
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33. Neuroimmune interactions in patients with inflammatory bowel diseases: Disease activity and clinical behavior based on Substance P serum levels

Author: Tavano, Francesca, di Mola, F. Francesco, Latiano, Anna, Palmieri, Orazio, Bossa, Fabrizio, Valvano, Maria Rosa, Latiano, Tiziana, Annese, Vito, Andriulli, Angelo, and di Sebastiano, Pierluigi
Published: 2012
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34. Common variability in oestrogen-related genes and pancreatic ductal adenocarcinoma risk in women

Author: IRAS OH Epidemiology Chemical Agents, Peduzzi, Giulia, Archibugi, Livia, Katzke, Verena, Gentiluomo, Manuel, Capurso, Gabriele, Milanetto, Anna Caterina, Gazouli, Maria, Goetz, Mara, Brenner, Hermann, Vermeulen, Roel C H, Talar-Wojnarowska, Renata, Vanella, Giuseppe, Tavano, Francesca, Lucchesi, Maurizio, Mohelnikova-Duchonova, Beatrice, Chen, Xuechen, Kiudelis, Vytautas, Hegyi, Péter, Oliverius, Martin, Stocker, Hannah, Stornello, Caterina, Vodickova, Ludmila, Souček, Pavel, Neoptolemos, John P, Testoni, Sabrina Gloria Giulia, Morelli, Luca, Lawlor, Rita T, Basso, Daniela, Izbicki, Jakob R, Ermini, Stefano, Kupcinskas, Juozas, Pezzilli, Raffaele, Boggi, Ugo, van Laarhoven, Hanneke W M, Szentesi, Andrea, Erőss, Bálint, Capretti, Giovanni, Schöttker, Ben, Skieceviciene, Jurgita, Aoki, Mateus Nóbrega, van Eijck, Casper H J, Cavestro, Giulia Martina, Canzian, Federico, Campa, Daniele, IRAS OH Epidemiology Chemical Agents, Peduzzi, Giulia, Archibugi, Livia, Katzke, Verena, Gentiluomo, Manuel, Capurso, Gabriele, Milanetto, Anna Caterina, Gazouli, Maria, Goetz, Mara, Brenner, Hermann, Vermeulen, Roel C H, Talar-Wojnarowska, Renata, Vanella, Giuseppe, Tavano, Francesca, Lucchesi, Maurizio, Mohelnikova-Duchonova, Beatrice, Chen, Xuechen, Kiudelis, Vytautas, Hegyi, Péter, Oliverius, Martin, Stocker, Hannah, Stornello, Caterina, Vodickova, Ludmila, Souček, Pavel, Neoptolemos, John P, Testoni, Sabrina Gloria Giulia, Morelli, Luca, Lawlor, Rita T, Basso, Daniela, Izbicki, Jakob R, Ermini, Stefano, Kupcinskas, Juozas, Pezzilli, Raffaele, Boggi, Ugo, van Laarhoven, Hanneke W M, Szentesi, Andrea, Erőss, Bálint, Capretti, Giovanni, Schöttker, Ben, Skieceviciene, Jurgita, Aoki, Mateus Nóbrega, van Eijck, Casper H J, Cavestro, Giulia Martina, Canzian, Federico, and Campa, Daniele
Published: 2022

35. Influence of preoperative biliary drainage on surgical outcome after pancreaticoduodenectomy: single centre experience

Author: di Mola, F. Francesco, Tavano, Francesca, Rago, R. Rita, De Bonis, Antonio, Valvano, M. Rosa, Andriulli, Angelo, and di Sebastiano, Pierluigi
Published: 2014
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36. A tumour score with multidetector spiral CT for venous infiltration in pancreatic cancer: influence on borderline resectable

Author: Marinelli, Tiziana, Filippone, Antonella, Tavano, Francesca, Fontana, Andrea, Pellegrini, Fabio, Köninger, Jörg, Richter, Götz M., Bonomo, Lorenzo, Büchler, Markus W., di Sebastiano, Pierluigi, and di Mola, Francesco F.
Published: 2014
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37. A fine mapping approach to uncover the genetic susceptibility to pancreatic ductal adenocarcinoma.

Author: Rizzato, Cosmeri, Giaccherini, Matteo, Gentiluomo, Manuel, Farinella, Riccardo, Tavano, Francesca, Morelli, Luca, Aretini, Paolo, Lessi, Francesca, Mazzanti, Chiara Maria, Arcidiacono, Paolo Giorgio, Capurso, Gabriele, Landi, Stefano, and Campa, Daniele
Published: 2024
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38. Genetically Determined Telomere Length Is Associated with Pancreatic Neuroendocrine Neoplasms Onset

Author: Gentiluomo, Manuel, primary, Capurso, Gabriele, additional, Morelli, Luca, additional, Ermini, Stefano, additional, Pasquali, Claudio, additional, Latiano, Anna, additional, Tavano, Francesca, additional, Greenhalf, William, additional, Milanetto, Anna Caterina, additional, Landi, Stefano, additional, Roth, Susanne, additional, Malecka-Wojciesko, Ewa, additional, Costello, Eithne, additional, Jamroziak, Krzysztof, additional, Perri, Francesco, additional, Boggi, Ugo, additional, Basso, Daniela, additional, Farinati, Fabio, additional, Kaaks, Rudolf, additional, Vanella, Giuseppe, additional, Gais Zurcher, Anna-Lea J., additional, Archibugi, Livia, additional, Lawlor, Rita T., additional, Canzian, Federico, additional, and Campa, Daniele, additional
Published: 2022
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39. Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk

Author: Lu, Ye, primary, Gentiluomo, Manuel, additional, Macauda, Angelica, additional, Gioffreda, Domenica, additional, Gazouli, Maria, additional, Petrone, Maria C., additional, Kelemen, Dezső, additional, Ginocchi, Laura, additional, Morelli, Luca, additional, Papiris, Konstantinos, additional, Greenhalf, William, additional, Izbicki, Jakob R., additional, Kiudelis, Vytautas, additional, Mohelníková-Duchoňová, Beatrice, additional, Bueno-de-Mesquita, Bas, additional, Vodicka, Pavel, additional, Brenner, Hermann, additional, Diener, Markus K., additional, Pezzilli, Raffaele, additional, Ivanauskas, Audrius, additional, Salvia, Roberto, additional, Szentesi, Andrea, additional, Aoki, Mateus Nóbrega, additional, Németh, Balázs C., additional, Sperti, Cosimo, additional, Jamroziak, Krzysztof, additional, Chammas, Roger, additional, Oliverius, Martin, additional, Archibugi, Livia, additional, Ermini, Stefano, additional, Novák, János, additional, Kupcinskas, Juozas, additional, Strouhal, Ondřej, additional, Souček, Pavel, additional, Cavestro, Giulia M., additional, Milanetto, Anna C., additional, Vanella, Giuseppe, additional, Neoptolemos, John P., additional, Theodoropoulos, George E., additional, van Laarhoven, Hanneke W. M., additional, Mambrini, Andrea, additional, Moz, Stefania, additional, Kala, Zdenek, additional, Loveček, Martin, additional, Basso, Daniela, additional, Uzunoglu, Faik G., additional, Hackert, Thilo, additional, Testoni, Sabrina G. G., additional, Hlaváč, Viktor, additional, Andriulli, Angelo, additional, Lucchesi, Maurizio, additional, Tavano, Francesca, additional, Carrara, Silvia, additional, Hegyi, Péter, additional, Arcidiacono, Paolo G., additional, Busch, Olivier R., additional, Lawlor, Rita T., additional, Puzzono, Marta, additional, Boggi, Ugo, additional, Guo, Feng, additional, Małecka-Panas, Ewa, additional, Capurso, Gabriele, additional, Landi, Stefano, additional, Talar-Wojnarowska, Renata, additional, Strobel, Oliver, additional, Gao, Xin, additional, Vashist, Yogesh, additional, Campa, Daniele, additional, and Canzian, Federico, additional
Published: 2021
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40. Genetic Polymorphisms Involved in Mitochondrial Metabolism and Pancreatic Cancer Risk

Author: Peduzzi, Giulia, primary, Gentiluomo, Manuel, additional, Tavano, Francesca, additional, Arcidiacono, Paolo Giorgio, additional, Ermini, Stefano, additional, Vodicka, Pavel, additional, Boggi, Ugo, additional, Cavestro, Giulia Martina, additional, Capurso, Gabriele, additional, Morelli, Luca, additional, Milanetto, Anna Caterina, additional, Pezzilli, Raffaele, additional, Lawlor, Rita T., additional, Carrara, Silvia, additional, Lovecek, Martin, additional, Souček, Pavel, additional, Guo, Feng, additional, Hackert, Thilo, additional, Uzunoğlu, Faik G., additional, Gazouli, Maria, additional, Párniczky, Andrea, additional, Kupcinskas, Juozas, additional, Bijlsma, Maarten F., additional, Bueno-de-Mesquita, Bas, additional, Vermeulen, Roel, additional, van Eijck, Casper H.J., additional, Jamroziak, Krzysztof, additional, Talar-Wojnarowska, Renata, additional, Greenhalf, William, additional, Gioffreda, Domenica, additional, Petrone, Maria C., additional, Landi, Stefano, additional, Archibugi, Livia, additional, Puzzono, Marta, additional, Funel, Niccola, additional, Sperti, Cosimo, additional, Piredda, Maria L., additional, Mohelnikova-Duchonova, Beatrice, additional, Lu, Ye, additional, Hlaváč, Viktor, additional, Gao, Xin, additional, Schneider, Martin, additional, Izbicki, Jakob R., additional, Theodoropoulos, George, additional, Bunduc, Stefania, additional, Kreivenaite, Edita, additional, Busch, Olivier R., additional, Małecka-Panas, Ewa, additional, Costello, Eithne, additional, Perri, Francesco, additional, Testoni, Sabrina Gloria Giulia, additional, Vanella, Giuseppe, additional, Pasquali, Claudio, additional, Oliverius, Martin, additional, Brenner, Hermann, additional, Loos, Martin, additional, Götz, Mara, additional, Georgiou, Konstantinos, additional, Erőss, Bálint, additional, Maiello, Evaristo, additional, Szentesi, Andrea, additional, Bazzocchi, Francesca, additional, Basso, Daniela, additional, Neoptolemos, John P., additional, Hegyi, Péter, additional, Kiudelis, Vytautas, additional, Canzian, Federico, additional, and Campa, Daniele, additional
Published: 2021
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41. TERT gene harbors multiple variants associated with pancreatic cancer susceptibility

Author: Campa, Daniele, Rizzato, Cosmeri, Stolzenberg-Solomon, Rachael, Pacetti, Paola, Vodicka, Pavel, Cleary, Sean P., Capurso, Gabriele, Bueno-de-Mesquita, H. B(as), Werner, Jens, Gazouli, Maria, Butterbach, Katja, Ivanauskas, Audrius, Giese, Nathalia, Petersen, Gloria M., Fogar, Paola, Wang, Zhaoming, Bassi, Claudio, Ryska, Miroslav, Theodoropoulos, George E., Kooperberg, Charles, Li, Donghui, Greenhalf, William, Pasquali, Claudio, Hackert, Thilo, Fuchs, Charles S., Mohelnikova-Duchonova, Beatrice, Sperti, Cosimo, Funel, Niccola, Dieffenbach, Aida Karina, Wareham, Nicholas J., Buring, Julie, Holcátová, Ivana, Costello, Eithne, Zambon, Carlo-Federico, Kupcinskas, Juozas, Risch, Harvey A., Kraft, Peter, Bracci, Paige M., Pezzilli, Raffaele, Olson, Sara H., Sesso, Howard D., Hartge, Patricia, Strobel, Oliver, Małecka-Panas, Ewa, Visvanathan, Kala, Arslan, Alan A., Pedrazzoli, Sergio, Souček, Pavel, Gioffreda, Domenica, Key, Timothy J., Talar-Wojnarowska, Renata, Scarpa, Aldo, Mambrini, Andrea, Jacobs, Eric J., Jamroziak, Krzysztof, Klein, Alison, Tavano, Francesca, Bambi, Franco, Landi, Stefano, Austin, Melissa A., Vodickova, Ludmila, Brenner, Hermann, Chanock, Stephen J., Fave, Gianfranco Delle, Piepoli, Ada, Cantore, Maurizio, Zheng, Wei, Wolpin, Brian M., Amundadottir, Laufey T., and Canzian, Federico
Published: 2015
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42. Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene.

Author: Micale, Lucia, Fusco, Carmela, Nardella, Grazia, Palmieri, Orazio, Latiano, Tiziana, Gioffreda, Domenica, Tavano, Francesca, Panza, Anna, Merla, Antonio, Biscaglia, Giuseppe, Gentile, Marco, Cuttitta, Antonello, Castori, Marco, Perri, Francesco, and Latiano, Anna
Subjects: ESOPHAGEAL achalasia, GENE targeting, MUSCLE motility, BINDING sites, SMOOTH muscle
Abstract: Achalasia is an esophageal smooth muscle motility disorder with unknown pathogenesis. Taking into account our previous results on the downexpression of miR-200c-3p in tissues of patients with achalasia correlated with an increased expression of PRKG1, SULF1, and SYDE1 genes, our aim was to explore the unknown biological interaction between these genes and human miR-200c-3p and if this relation could unravel their functional role in the etiology of achalasia. To search for putative miR-200c-3p binding sites in the 3′-UTR of PRKG1, SULF1 and SYDE1, a bioinformatics tool was used. To test whether PRKG1, SULF1, and SYDE1 are targeted by miR-200c-3p, a dual-luciferase reporter assay and quantitative PCR on HEK293 and fibroblast cell lines were performed. To explore the biological correlation between PRKG1 and miR-200c-3p, an immunoblot analysis was carried out. The overexpression of miR-200c-3p reduced the luciferase activity in cells transfected with a luciferase reporter containing a fragment of the 3′-UTR regions of PRKG1, SULF1, and SYDE1 which included the miR-200c-3p seed sequence. The deletion of the miR-200c-3p seed sequence from the 3′-UTR fragments abrogated this reduction. A negative correlation between miR-200c-3p and PRKG1, SULF1, and SYDE1 expression levels was observed. Finally, a reduction of the endogenous level of PRKG1 in cells overexpressing miR-200c-3p was detected. Our study provides, for the first time, functional evidence about the PRKG1 gene as a direct target and SULF1 and SYDE1 as potential indirect substrates of miR-200c-3p and suggests the involvement of NO/cGMP/PKG signaling in the pathogenesis of achalasia. [ABSTRACT FROM AUTHOR]
Published: 2023
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43. Association of Genetic Variants Affecting microRNAs and Pancreatic Cancer Risk

Author: Lu, Ye, primary, Corradi, Chiara, additional, Gentiluomo, Manuel, additional, López de Maturana, Evangelina, additional, Theodoropoulos, George E., additional, Roth, Susanne, additional, Maiello, Evaristo, additional, Morelli, Luca, additional, Archibugi, Livia, additional, Izbicki, Jakob R., additional, Sarlós, Patricia, additional, Kiudelis, Vytautas, additional, Oliverius, Martin, additional, Aoki, Mateus Nóbrega, additional, Vashist, Yogesh, additional, van Eijck, Casper H. J., additional, Gazouli, Maria, additional, Talar-Wojnarowska, Renata, additional, Mambrini, Andrea, additional, Pezzilli, Raffaele, additional, Bueno-de-Mesquita, Bas, additional, Hegyi, Péter, additional, Souček, Pavel, additional, Neoptolemos, John P., additional, Di Franco, Gregorio, additional, Sperti, Cosimo, additional, Kauffmann, Emanuele F., additional, Hlaváč, Viktor, additional, Uzunoğlu, Faik G., additional, Ermini, Stefano, additional, Małecka-Panas, Ewa, additional, Lucchesi, Maurizio, additional, Vanella, Giuseppe, additional, Dijk, Frederike, additional, Mohelníková-Duchoňová, Beatrice, additional, Bambi, Franco, additional, Petrone, Maria Chiara, additional, Jamroziak, Krzysztof, additional, Guo, Feng, additional, Kolarova, Katerina, additional, Capretti, Giovanni, additional, Milanetto, Anna Caterina, additional, Ginocchi, Laura, additional, Loveček, Martin, additional, Puzzono, Marta, additional, van Laarhoven, Hanneke W. M., additional, Carrara, Silvia, additional, Ivanauskas, Audrius, additional, Papiris, Konstantinos, additional, Basso, Daniela, additional, Arcidiacono, Paolo G., additional, Izbéki, Ferenc, additional, Chammas, Roger, additional, Vodicka, Pavel, additional, Hackert, Thilo, additional, Pasquali, Claudio, additional, Piredda, Maria L., additional, Costello-Goldring, Eithne, additional, Cavestro, Giulia Martina, additional, Szentesi, Andrea, additional, Tavano, Francesca, additional, Włodarczyk, Barbara, additional, Brenner, Hermann, additional, Kreivenaite, Edita, additional, Gao, Xin, additional, Bunduc, Stefania, additional, Vermeulen, Roel C. H., additional, Schneider, Martin A., additional, Latiano, Anna, additional, Gioffreda, Domenica, additional, Testoni, Sabrina G. G., additional, Kupcinskas, Juozas, additional, Lawlor, Rita T., additional, Capurso, Gabriele, additional, Malats, Núria, additional, Campa, Daniele, additional, and Canzian, Federico, additional
Published: 2021
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44. Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk

Author: Lu, Ye Gentiluomo, Manuel Macauda, Angelica Gioffreda, Domenica Gazouli, Maria Petrone, Maria C. Kelemen, Dezso and Ginocchi, Laura Morelli, Luca Papiris, Konstantinos and Greenhalf, William Izbicki, Jakob R. Kiudelis, Vytautas and Mohelnikova-Duchonova, Beatrice Bueno-de-Mesquita, Bas Vodicka, Pavel Brenner, Hermann Diener, Markus K. Pezzilli, Raffaele and Ivanauskas, Audrius Salvia, Roberto Szentesi, Andrea and Aoki, Mateus Nobrega Nemeth, Balazs C. Sperti, Cosimo and Jamroziak, Krzysztof Chammas, Roger Oliverius, Martin and Archibugi, Livia Ermini, Stefano Novak, Janos Kupcinskas, Juozas Strouhal, Ondrej Soucek, Pavel Cavestro, Giulia M. and Milanetto, Anna C. Vanella, Giuseppe Neoptolemos, John P. and Theodoropoulos, George E. van Laarhoven, Hanneke W. M. and Mambrini, Andrea Moz, Stefania Kala, Zdenek Lovecek, Martin and Basso, Daniela Uzunoglu, Faik G. Hackert, Thilo Testoni, Sabrina G. G. Hlavac, Viktor Andriulli, Angelo Lucchesi, Maurizio Tavano, Francesca Carrara, Silvia Hegyi, Peter and Arcidiacono, Paolo G. Busch, Olivier R. Lawlor, Rita T. and Puzzono, Marta Boggi, Ugo Guo, Feng Malecka-Panas, Ewa and Capurso, Gabriele Landi, Stefano Talar-Wojnarowska, Renata and Strobel, Oliver Gao, Xin Vashist, Yogesh Campa, Daniele and Canzian, Federico
Abstract: Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much of the heritability of pancreatic cancer risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional risk variants. To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry. Six single nucleotide polymorphisms (SNPs) showed associations with pancreatic cancer risk according to a recessive model of inheritance. We replicated these variants in 3,212 cases and 3,470 controls collected from the PANcreatic Disease ReseArch (PANDoRA) consortium. The results of the meta-analyses confirmed that rs4626538 (7q32.2), rs7008921 (8p23.2) and rs147904962 (17q21.31) showed specific recessive effects (p10(-3)), although none of the six SNPs reached the conventional threshold for genome-wide significance (p < 5x10(-8)). Additional bioinformatic analysis explored the functional annotations of the SNPs and indicated a possible relationship between rs36018702 and expression of the BCL2L11 and BUB1 genes, which are known to be involved in pancreatic biology. Our findings, while not conclusive, indicate the importance of considering non-additive genetic models when performing GWAS analysis. The SNPs associated with pancreatic cancer in this study could be used for further meta-analysis for recessive association of SNPs and pancreatic cancer risk and might be a useful addiction to improve the performance of polygenic risk scores.
Published: 2021

45. Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction

Author: Galeotti, Alice Alessandra Gentiluomo, Manuel Rizzato, Cosmeri and Obazee, Ofure Neoptolemos, John P. Pasquali, Claudio and Nentwich, Michael Cavestro, Giulia Martina Pezzilli, Raffaele and Greenhalf, William Holleczek, Bernd Schroeder, Cornelia and Schottker, Ben Ivanauskas, Audrius Ginocchi, Laura Key, Timothy J. Hegyi, Peter Archibugi, Livia Darvasi, Erika and Basso, Daniela Sperti, Cosimo Bijlsma, Maarten F. Palmieri, Orazio Hlavac, Viktor Talar-Wojnarowska, Renata and Mohelnikova-Duchonova, Beatrice Hackert, Thilo Vashist, Yogesh and Strouhal, Ondrej van Laarhoven, Hanneke Tavano, Francesca and Lovecek, Martin Dervenis, Christos Izbeki, Ferenc and Padoan, Andrea Malecka-Panas, Ewa Maiello, Evaristo Vanella, Giuseppe Capurso, Gabriele Izbicki, Jakob R. Theodoropoulos, George E. Jamroziak, Krzysztof Katzke, Verena Kaaks, Rudolf and Mambrini, Andrea Papanikolaou, Ioannis S. Szmola, Richard and Szentesi, Andrea Kupcinskas, Juozas Bursi, Simona and Costello, Eithne Boggi, Ugo Milanetto, Anna Caterina Landi, Stefano Gazouli, Maria Vodickova, Ludmila Soucek, Pavel and Gioffreda, Domenica Gemignani, Federica Brenner, Hermann and Strobel, Oliver Buechler, Markus Vodicka, Pavel Paiella, Salvatore Canzian, Federico Campa, Daniele
Abstract: Background Most cases of pancreatic ductal adenocarcinoma (PDAC) are asymptomatic in early stages, and the disease is typically diagnosed in advanced phases, resulting in very high mortality. Tools to identify individuals at high risk of developing PDAC would be useful to improve chances of early detection. Objective We generated a polygenic risk score (PRS) for PDAC risk prediction, combining the effect of known risk SNPs, and carried out an exploratory analysis of a multifactorial score. Methods We tested the associations of the individual known risk SNPs on up to 2851 PDAC cases and 4810 controls of European origin from the PANcreatic Disease ReseArch (PANDoRA) consortium. Thirty risk SNPs were included in a PRS, which was computed on the subset of subjects that had 100% call rate, consisting of 839 cases and 2040 controls in PANDoRA and 6420 cases and 4889 controls from the previously published Pancreatic Cancer Cohort Consortium I-III and Pancreatic Cancer Case-Control Consortium genome-wide association studies. Additional exploratory multifactorial scores were constructed by complementing the genetic score with smoking and diabetes. Results The scores were associated with increased PDAC risk and reached high statistical significance (OR=2.70, 95% CI 1.99 to 3.68, p=2.54x10(-10) highest vs lowest quintile of the weighted PRS, and OR=14.37, 95% CI 5.57 to 37.09, p=3.64x10(-8), highest vs lowest quintile of the weighted multifactorial score). Conclusion We found a highly significant association between a PRS and PDAC risk, which explains more than individual SNPs and is a step forward in the direction of the construction of a tool for risk stratification in the population.
Published: 2021

46. Genetic Polymorphisms Involved in Mitochondrial Metabolism and Pancreatic Cancer Risk

Author: Peduzzi, Giulia Gentiluomo, Manuel Tavano, Francesca and Arcidiacono, Paolo Giorgio Ermini, Stefano Vodicka, Pavel and Boggi, Ugo Cavestro, Giulia Martina Capurso, Gabriele and Morelli, Luca Milanetto, Anna Caterina Pezzilli, Raffaele and Lawlor, Rita T. Carrara, Silvia Lovecek, Martin Souc, Pavel and Guo, Feng Hackert, Thilo Uzunoglu, Faik G. Gazouli, Maria Parniczky, Andrea Kupcinskas, Juozas Bijlsma, Maarten F. Bueno-de-Mesquita, Bas Vermeulen, Roel van Eijck, Casper H. J. Jamroziak, Krzysztof Talar-Wojnarowska, Renata and Greenhalf, William Gioffreda, Domenica Petrone, Maria C. and Landi, Stefano Archibugi, Livia Puzzono, Marta Funel, Niccola Sperti, Cosimo Piredda, Maria L. and Mohelnikova-Duchonova, Beatrice Lu, Ye Hlavac, Viktor Gao, Xin Schneider, Martin Izbicki, Jakob R. Theodoropoulos, George Bunduc, Stefania Kreivenaite, Edita Busch, Olivier R. and Malecka-Panas, Ewa Costello, Eithne Perri, Francesco and Testoni, Sabrina Gloria Giulia Vanella, Giuseppe Pasquali, Claudio Oliverius, Martin Brenner, Hermann Loos, Martin and Gotz, Mara Georgiou, Konstantinos Eross, Alint Maiello, Evaristo Szentesi, Andrea Bazzocchi, Francesca Basso, Daniela Neoptolemos, John P. Hegyi, P. Eter Kiudelis, Vytautas Canzian, Federico Campa, Daniele
Subjects: endocrine system diseases
Abstract: Background: The mitochondrial metabolism has been associated with pancreatic ductal adenocarcinoma (PDAC) risk. Recent evidence also suggests the involvement of the genetic variability of the mitochondrial function in several traits involved in PDAC etiology. However, a systematic investigation of the genetic variability of mitochondrial genome (mtSNP) and of all the nuclear genes involved in its functioning (n-mtSNPs) has never been reported. Methods: We conducted a two-phase association study of mtSNPs and n-mtSNPs to assess their effect on PDAC risk. We analyzed 35,297 n-mtSNPs and 101 mtSNPs in up to 55,870 individuals (12,884 PDAC cases and 42,986 controls). In addition, we also conducted a gene-based analysis on 1,588 genes involved in mitochondrial metabolism using Multi-marker Analysis of GenoMic Annotation (MAGMA) software. Results: In the discovery phase, we identified 49 n-mtSNPs and no mtSNPs associated with PDAC risk (P < 0.05). In the second phase, none of the findings were replicated. In the gene-level analysis, we observed that three genes (TERT, SUGCT, and SURF1) involved in the mitochondrial metabolism showed an association below the Bonferroni-corrected threshold of statistical significance (P = 0.05/1588 - 3.1 x 10(-5)). Conclusions: Even though the mitochondrial metabolism might be involved in PDAC etiology, our results, obtained in a study with one of the largest sample sizes to date, show that neither n-mtSNPs nor mtSNPs are associated with PDAC risk.
Published: 2021

47. Associations between pancreatic expression quantitative traits and risk of pancreatic ductal adenocarcinoma

Author: Pistoni, Laura Gentiluomo, Manuel Lu, Ye de Maturana, Evangelina Lopez Hlavac, Viktor Vanella, Giuseppe Darvasi, Erika Milanetto, Anna Caterina Oliverius, Martin Vashist, Yogesh Di Leo, Milena Mohelnikova-Duchonova, Beatrice and Talar-Wojnarowska, Renata Gheorghe, Cristian Petrone, Maria Chiara Strobel, Oliver Arcidiacono, Paolo Giorgio Vodickova, Ludmila Szentesi, Andrea Capurso, Gabriele Gajdan, Laszlo and Malleo, Giuseppe Theodoropoulos, George E. Basso, Daniela and Soucek, Pavel Brenner, Hermann Lawlor, Rita T. Morelli, Luca Ivanauskas, Audrius Kauffmann, Emanuele Federico and Macauda, Angelica Gazouli, Maria Archibugi, Livia Nentwich, Michael Cavestro, Giulia Martina Vodicka, Pavel Landi, Stefano Tavano, Francesca Sperti, Cosimo Hackert, Thilo and Kupcinskas, Juozas Pezzilli, Raffaele Andriulli, Angelo and Pollina, Luca Kreivenaite, Edita Gioffreda, Domenica and Jamroziak, Krzysztof Hegyi, Peter Izbicki, Jakob R. Testoni, Sabrina Gloria Giulia Zuppardo, Raffaella Alessia Bozzato, Dania and Neoptolemos, John P. Malats, Nuria Canzian, Federico and Campa, Daniele Lovecek, Martin
Subjects: endocrine system diseases
Abstract: Pancreatic ductal adenocarcinoma (PDAC) is among the most lethal cancers. Its poor prognosis is predominantly due to the fact that most patients remain asymptomatic until the disease reaches an advanced stage, alongside the lack of early markers and screening strategies. A better understanding of PDAC risk factors is essential for the identification of groups at high risk in the population. Genome-wide association studies (GWAS) have been a powerful tool for detecting genetic variants associated with complex traits, including pancreatic cancer. By exploiting functional and GWAS data, we investigated the associations between polymorphisms affecting gene function in the pancreas (expression quantitative trait loci, eQTLs) and PDAC risk. In a two-phase approach, we analysed 13 713 PDAC cases and 43 784 controls and identified a genome-wide significant association between the A allele of the rs2035875 polymorphism and increased PDAC risk (P = 7.14 x 10(-10)). This allele is known to be associated with increased expression in the pancreas of the keratin genes KRT8 and KRT18, whose increased levels have been reported to correlate with various tumour cell characteristics. Additionally, the A allele of the rs789744 variant was associated with decreased risk of developing PDAC (P = 3.56 x 10(-6)). This single nucleotide polymorphism is situated in the SRGAP1 gene and the A allele is associated with higher expression of the gene, which in turn inactivates the cyclin-dependent protein 42 (CDC42) gene expression, thus decreasing the risk of PDAC. In conclusion, we present here a functional-based novel PDAC risk locus and an additional strong candidate supported by significant associations and plausible biological mechanisms.
Published: 2021

48. Association of Genetic Variants Affecting microRNAs and Pancreatic Cancer Risk

Author: Lu, Ye Corradi, Chiara Gentiluomo, Manuel Lopez de Maturana, Evangelina Theodoropoulos, George E. Roth, Susanne Maiello, Evaristo Morelli, Luca Archibugi, Livia Izbicki, Jakob R. and Sarlos, Patricia Kiudelis, Vytautas Oliverius, Martin and Aoki, Mateus Nobrega Vashist, Yogesh van Eijck, Casper H. J. and Gazouli, Maria Talar-Wojnarowska, Renata Mambrini, Andrea and Pezzilli, Raffaele Bueno-de-Mesquita, Bas Hegyi, Peter and Soucek, Pavel Neoptolemos, John P. Di Franco, Gregorio and Sperti, Cosimo Kauffmann, Emanuele F. Hlavac, Viktor and Uzunoglu, Faik G. Ermini, Stefano Malecka-Panas, Ewa and Lucchesi, Maurizio Vanella, Giuseppe Dijk, Frederike and Mohelnikova-Duchonova, Beatrice Bambi, Franco Petrone, Maria Chiara Jamroziak, Krzysztof Guo, Feng Kolarova, Katerina and Capretti, Giovanni Milanetto, Anna Caterina Ginocchi, Laura and Lovecek, Martin Puzzono, Marta van Laarhoven, Hanneke W. M. and Carrara, Silvia Ivanauskas, Audrius Papiris, Konstantinos and Basso, Daniela Arcidiacono, Paolo G. Izbeki, Ferenc Chammas, Roger Vodicka, Pavel Hackert, Thilo Pasquali, Claudio and Piredda, Maria L. Costello-Goldring, Eithne Cavestro, Giulia Martina Szentesi, Andrea Tavano, Francesca Wlodarczyk, Barbara Brenner, Hermann Kreivenaite, Edita Gao, Xin and Bunduc, Stefania Vermeulen, Roel C. H. Schneider, Martin A. and Latiano, Anna Gioffreda, Domenica Testoni, Sabrina G. G. and Kupcinskas, Juozas Lawlor, Rita T. Capurso, Gabriele Malats, Nuria Campa, Daniele Canzian, Federico
Abstract: Genetic factors play an important role in the susceptibility to pancreatic cancer (PC). However, established loci explain a small proportion of genetic heritability for PC; therefore, more progress is needed to find the missing ones. We aimed at identifying single nucleotide polymorphisms (SNPs) affecting PC risk through effects on micro-RNA (miRNA) function. We searched in silico the genome for SNPs in miRNA seed sequences or 3 prime untranslated regions (3’UTRs) of miRNA target genes. Genome-wide association data of PC cases and controls from the Pancreatic Cancer Cohort (PanScan) Consortium and the Pancreatic Cancer Case-Control (PanC4) Consortium were re-analyzed for discovery, and genotyping data from two additional consortia (PanGenEU and PANDoRA) were used for replication, for a total of 14,062 cases and 11,261 controls. None of the SNPs reached genome-wide significance in the meta-analysis, but for three of them the associations were in the same direction in all the study populations and showed lower value of p in the meta-analyses than in the discovery phase. Specifically, rs7985480 was consistently associated with PC risk (OR = 1.12, 95% CI 1.07-1.17, p = 3.03 x 10(-6) in the meta-analysis). This SNP is in linkage disequilibrium (LD) with rs2274048, which modulates binding of various miRNAs to the 3’UTR of UCHL3, a gene involved in PC progression. In conclusion, our results expand the knowledge of the genetic PC risk through miRNA-related SNPs and show the usefulness of functional prioritization to identify genetic polymorphisms associated with PC risk.
Published: 2021

49. Genetic Polymorphisms Involved in Mitochondrial Metabolism and Pancreatic Cancer Risk

Author: Peduzzi, Giulia, Gentiluomo, Manuel, Tavano, Francesca, Arcidiacono, Paolo Giorgio, Ermini, Stefano, Vodicka, Pavel, Boggi, Ugo, Cavestro, Giulia Martina, Capurso, Gabriele, Morelli, Luca, Milanetto, Anna Caterina, Pezzilli, Raffaele, Lawlor, Rita T, Carrara, Silvia, Lovecek, Martin, Souček, Pavel, Guo, Feng, Hackert, Thilo, Uzunoğlu, Faik, Gazouli, Maria, Párniczky, Andrea, Kupcinskas, Juozas, Bijlsma, Maarten F, Bueno-de-Mesquita, H. Bas, Vermeulen, Roel, van Eijck, Casper H J, Jamroziak, Krzysztof, Talar-Wojnarowska, Renata, Greenhalf, William, Gioffreda, Domenica, Petrone, Maria C., Landi, Stefano, Archibugi, Livia, Puzzono, Marta, Funel, Niccola, Sperti, Cosimo, Piredda, Maria L., Mohelnikova-Duchonova, Beatrice, Lu, Ye, Hlaváč, Viktor, Gao, Xin, Schneider, Martin, Izbicki, Jakob R., Theodoropoulos, George, Bunduc, Stefania, Kreivenaite, Edita, Busch, Olivier, Małecka-Panas, Ewa, Costello, Eithne, Perri, Francesco, Testoni, Sabrina Gloria Giulia, Vanella, Giuseppe, Pasquali, Claudio, Oliverius, Martin, Brenner, Hermann, Loos, Martin, Götz, Mara, Georgiou, Konstantinos, Erőss, Bálint, Maiello, Evaristo, Szentesi, Andrea, Bazzocchi, Francesca, Basso, Daniela, Neoptolemos, John P., Hegyi, Péter, Kiudelis, Vytautas, Canzian, Federico, Campa, Daniele, Peduzzi, Giulia, Gentiluomo, Manuel, Tavano, Francesca, Arcidiacono, Paolo Giorgio, Ermini, Stefano, Vodicka, Pavel, Boggi, Ugo, Cavestro, Giulia Martina, Capurso, Gabriele, Morelli, Luca, Milanetto, Anna Caterina, Pezzilli, Raffaele, Lawlor, Rita T, Carrara, Silvia, Lovecek, Martin, Souček, Pavel, Guo, Feng, Hackert, Thilo, Uzunoğlu, Faik, Gazouli, Maria, Párniczky, Andrea, Kupcinskas, Juozas, Bijlsma, Maarten F, Bueno-de-Mesquita, H. Bas, Vermeulen, Roel, van Eijck, Casper H J, Jamroziak, Krzysztof, Talar-Wojnarowska, Renata, Greenhalf, William, Gioffreda, Domenica, Petrone, Maria C., Landi, Stefano, Archibugi, Livia, Puzzono, Marta, Funel, Niccola, Sperti, Cosimo, Piredda, Maria L., Mohelnikova-Duchonova, Beatrice, Lu, Ye, Hlaváč, Viktor, Gao, Xin, Schneider, Martin, Izbicki, Jakob R., Theodoropoulos, George, Bunduc, Stefania, Kreivenaite, Edita, Busch, Olivier, Małecka-Panas, Ewa, Costello, Eithne, Perri, Francesco, Testoni, Sabrina Gloria Giulia, Vanella, Giuseppe, Pasquali, Claudio, Oliverius, Martin, Brenner, Hermann, Loos, Martin, Götz, Mara, Georgiou, Konstantinos, Erőss, Bálint, Maiello, Evaristo, Szentesi, Andrea, Bazzocchi, Francesca, Basso, Daniela, Neoptolemos, John P., Hegyi, Péter, Kiudelis, Vytautas, Canzian, Federico, and Campa, Daniele
Abstract: Background: The mitochondrial metabolism has been associated with pancreatic ductal adenocarcinoma (PDAC) risk. Recent evidence also suggests the involvement of the genetic variability of the mitochondrial function in several traits involved in PDAC etiology. However, a systematic investigation of the genetic variability of mitochondrial genome (mtSNP) and of all the nuclear genes involved in its functioning (n-mtSNPs) has never been reported. Methods: We conducted a two-phase association study of mtSNPs and n-mtSNPs to assess their effect on PDAC risk. We analyzed 35,297 n-mtSNPs and 101 mtSNPs in up to 55,870 individuals (12,884 PDAC cases and 42,986 controls). In addition, we also conducted a gene-based analysis on 1,588 genes involved in mitochondrial metabolism using Multi-marker Analysis of GenoMic Annotation (MAGMA) software. Results: In the discovery phase, we identified 49 n-mtSNPs and no mtSNPs associated with PDAC risk (P < 0.05). In the second phase, none of the findings were replicated. In the gene-level analysis, we observed that three genes (TERT, SUGCT, and SURF1) involved in the mitochondrial metabolism showed an association below the Bonferroni-corrected threshold of statistical significance (P = 0.05/1588 = 3.1 × 10–5). Conclusions: Even though the mitochondrial metabolism might be involved in PDAC etiology, our results, obtained in a study with one of the largest sample sizes to date, show that neither n-mtSNPs nor mtSNPs are associated with PDAC risk. Impact: This large case–control study does not support a role of the genetic variability of the mitochondrial function in PDAC risk
Published: 2021

50. Association of Genetic Variants Affecting microRNAs and Pancreatic Cancer Risk

Author: Lu, Ye, Corradi, Chiara, Gentiluomo, Manuel, López de Maturana, Evangelina, Theodoropoulos, George E., Roth, Susanne, Maiello, Evaristo, Morelli, Luca, Archibugi, Livia, Izbicki, Jakob R., Sarlós, Patricia, Kiudelis, Vytautas, Oliverius, Martin, Aoki, Mateus Nóbrega, Vashist, Yogesh, van Eijck, Casper H.J., Gazouli, Maria, Talar-Wojnarowska, Renata, Mambrini, Andrea, Pezzilli, Raffaele, Bueno-de-Mesquita, Bas, Hegyi, Péter, Souček, Pavel, Neoptolemos, John P., Di Franco, Gregorio, Sperti, Cosimo, Kauffmann, Emanuele F., Hlaváč, Viktor, Uzunoğlu, Faik G., Ermini, Stefano, Małecka-Panas, Ewa, Lucchesi, Maurizio, Vanella, Giuseppe, Dijk, Frederike, Mohelníková-Duchoňová, Beatrice, Bambi, Franco, Petrone, Maria Chiara, Jamroziak, Krzysztof, Guo, Feng, Kolarova, Katerina, Capretti, Giovanni, Milanetto, Anna Caterina, Ginocchi, Laura, Loveček, Martin, Puzzono, Marta, van Laarhoven, Hanneke W.M., Carrara, Silvia, Ivanauskas, Audrius, Papiris, Konstantinos, Basso, Daniela, Arcidiacono, Paolo G., Izbéki, Ferenc, Chammas, Roger, Vodicka, Pavel, Hackert, Thilo, Pasquali, Claudio, Piredda, Maria L., Costello-Goldring, Eithne, Cavestro, Giulia Martina, Szentesi, Andrea, Tavano, Francesca, Włodarczyk, Barbara, Brenner, Hermann, Kreivenaite, Edita, Gao, Xin, Bunduc, Stefania, Vermeulen, Roel C.H., Schneider, Martin A., Latiano, Anna, Gioffreda, Domenica, Testoni, Sabrina G.G., Kupcinskas, Juozas, Lawlor, Rita T., Capurso, Gabriele, Malats, Núria, Campa, Daniele, Canzian, Federico, Lu, Ye, Corradi, Chiara, Gentiluomo, Manuel, López de Maturana, Evangelina, Theodoropoulos, George E., Roth, Susanne, Maiello, Evaristo, Morelli, Luca, Archibugi, Livia, Izbicki, Jakob R., Sarlós, Patricia, Kiudelis, Vytautas, Oliverius, Martin, Aoki, Mateus Nóbrega, Vashist, Yogesh, van Eijck, Casper H.J., Gazouli, Maria, Talar-Wojnarowska, Renata, Mambrini, Andrea, Pezzilli, Raffaele, Bueno-de-Mesquita, Bas, Hegyi, Péter, Souček, Pavel, Neoptolemos, John P., Di Franco, Gregorio, Sperti, Cosimo, Kauffmann, Emanuele F., Hlaváč, Viktor, Uzunoğlu, Faik G., Ermini, Stefano, Małecka-Panas, Ewa, Lucchesi, Maurizio, Vanella, Giuseppe, Dijk, Frederike, Mohelníková-Duchoňová, Beatrice, Bambi, Franco, Petrone, Maria Chiara, Jamroziak, Krzysztof, Guo, Feng, Kolarova, Katerina, Capretti, Giovanni, Milanetto, Anna Caterina, Ginocchi, Laura, Loveček, Martin, Puzzono, Marta, van Laarhoven, Hanneke W.M., Carrara, Silvia, Ivanauskas, Audrius, Papiris, Konstantinos, Basso, Daniela, Arcidiacono, Paolo G., Izbéki, Ferenc, Chammas, Roger, Vodicka, Pavel, Hackert, Thilo, Pasquali, Claudio, Piredda, Maria L., Costello-Goldring, Eithne, Cavestro, Giulia Martina, Szentesi, Andrea, Tavano, Francesca, Włodarczyk, Barbara, Brenner, Hermann, Kreivenaite, Edita, Gao, Xin, Bunduc, Stefania, Vermeulen, Roel C.H., Schneider, Martin A., Latiano, Anna, Gioffreda, Domenica, Testoni, Sabrina G.G., Kupcinskas, Juozas, Lawlor, Rita T., Capurso, Gabriele, Malats, Núria, Campa, Daniele, and Canzian, Federico
Abstract: Genetic factors play an important role in the susceptibility to pancreatic cancer (PC). However, established loci explain a small proportion of genetic heritability for PC; therefore, more progress is needed to find the missing ones. We aimed at identifying single nucleotide polymorphisms (SNPs) affecting PC risk through effects on micro-RNA (miRNA) function. We searched in silico the genome for SNPs in miRNA seed sequences or 3 prime untranslated regions (3'UTRs) of miRNA target genes. Genome-wide association data of PC cases and controls from the Pancreatic Cancer Cohort (PanScan) Consortium and the Pancreatic Cancer Case–Control (PanC4) Consortium were re-analyzed for discovery, and genotyping data from two additional consortia (PanGenEU and PANDoRA) were used for replication, for a total of 14,062 cases and 11,261 controls. None of the SNPs reached genome-wide significance in the meta-analysis, but for three of them the associations were in the same direction in all the study populations and showed lower value of p in the meta-analyses than in the discovery phase. Specifically, rs7985480 was consistently associated with PC risk (OR = 1.12, 95% CI 1.07–1.17, p = 3.03 × 10−6 in the meta-analysis). This SNP is in linkage disequilibrium (LD) with rs2274048, which modulates binding of various miRNAs to the 3'UTR of UCHL3, a gene involved in PC progression. In conclusion, our results expand the knowledge of the genetic PC risk through miRNA-related SNPs and show the usefulness of functional prioritization to identify genetic polymorphisms associated with PC risk.
Published: 2021

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