6 results on '"Mara Götz"'
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2. Genetic and non-genetic risk factors for early-onset pancreatic cancer
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Ylenia Nodari, Manuel Gentiluomo, Beatrice Mohelnikova-Duchonova, Edita Kreivenaite, Anna Caterina Milanetto, Jurgita Skieceviciene, Stefano Landi, Rita T Lawlor, Maria Chiara Petrone, Paolo Giorgio Arcidiacono, Martin Lovecek, Maria Gazouli, Maarten F. Bijlsma, Luca Morelli, Vytautas Kiudelis, Matteo Tacelli, Dalila Lucíola Zanette, Pavel Soucek, Faik Uzunoglu, Rudolf Kaaks, Jakob Izbicki, Ugo Boggi, Raffaele Pezzilli, Andrea Mambrini, Claudio Pasquali, Hanneke W. van Laarhoven, Verena Katzke, Giulia Martina Cavestro, Cosimo Sperti, Martin Loos, Anna Latiano, Bálint Erőss, Martin Oliverius, Theron Johnson, Daniela Basso, John P. Neoptolemos, Mateus Nóbrega Aoki, William Greenhalf, Pavel Vodicka, Livia Archibugi, Giuseppe Vanella, Maurizio Lucchesi, Renata Talar-Wojnarowska, Krzysztof Jamroziak, Mohammed Al Saeedi, Casper H.J. van Eijck, Juozas Kupcinskas, Tamás Hussein, Marta Puzzono, Stefania Bunduc, Mara Götz, Silvia Carrara, Andrea Szentesi, Francesca Tavano, Stefania Moz, Péter Hegyi, Claudio Luchini, Gabriele Capurso, Francesco Perri, Stefano Ermini, George Theodoropoulos, Giovanni Capretti, Orazio Palmieri, Laura Ginocchi, Niccolò Furbetta, Federico Canzian, Daniele Campa, Surgery, Internal medicine, Center of Experimental and Molecular Medicine, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers, Oncology, CCA - Cancer Treatment and Quality of Life, and AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
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Early onset ,GWAS ,Pancreatic cancer ,Risk factor ,Hepatology ,SDG 3 - Good Health and Well-being ,Gastroenterology ,03.02. Klinikai orvostan - Abstract
Background: Early-onset pancreatic cancer (EOPC) represents 5–10% of all pancreatic ductal adenocarcinoma (PDAC) cases, and the etiology of this form is poorly understood. It is not clear if established PDAC risk factors have the same relevance for younger patients. This study aims to identify genetic and non-genetic risk factors specific to EOPC. Methods: A genome-wide association study was performed, analysing 912 EOPC cases and 10 222 controls, divided into discovery and replication phases. Furthermore, the associations between a polygenic risk score (PRS), smoking, alcohol consumption, type 2 diabetes and PDAC risk were also assessed. Results: Six novel SNPs were associated with EOPC risk in the discovery phase, but not in the replication phase. The PRS, smoking, and diabetes affected EOPC risk. The OR comparing current smokers to never-smokers was 2.92 (95% CI 1.69–5.04, P = 1.44 × 10−4). For diabetes, the corresponding OR was 14.95 (95% CI 3.41–65.50, P = 3.58 × 10−4). Conclusion: In conclusion, we did not identify novel genetic variants associated specifically with EOPC, and we found that established PDAC risk variants do not have a strong age-dependent effect. Furthermore, we add to the evidence pointing to the role of smoking and diabetes in EOPC.
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- 2023
3. The PANcreatic Disease ReseArch (PANDoRA) consortium: Ten years' experience of association studies to understand the genetic architecture of pancreatic cancer
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Daniele Campa, Manuel Gentiluomo, Angelika Stein, Mateus Nóbrega Aoki, Martin Oliverius, Ludmila Vodičková, Krzysztof Jamroziak, George Theodoropoulos, Claudio Pasquali, William Greenhalf, Paolo Giorgio Arcidiacono, Faik Uzunoglu, Raffaele Pezzilli, Claudio Luchini, Marta Puzzono, Martin Loos, Matteo Giaccherini, Verena Katzke, Andrea Mambrini, Edita Kiudeliene, Kauffmann Emanuele Federico, Julia Johansen, Tamás Hussein, Beatrice Mohelnikova-Duchonova, Casper H.J. van Eijck, Hermann Brenner, Riccardo Farinella, Juan Sainz Pérez, Martin Lovecek, Markus W. Büchler, Viktor Hlavac, Jakob R. Izbicki, Thilo Hackert, Roger Chammas, Alessandro Zerbi, Rita Lawlor, Alessio Felici, Mara Götz, Gabriele Capurso, Laura Ginocchi, Maria Gazouli, Juozas Kupcinskas, Giulia Martina Cavestro, Pavel Vodicka, Stefania Moz, John P. Neoptolemos, Lumir Kunovsky, Stig E. Bojesen, Silvia Carrara, Domenica Gioffreda, Egidijus Morkunas, Olga Abian, Stefania Bunduc, Daniela Basso, Ugo Boggi, Barbara Wlodarczyk, Andrea Szentesi, Giuseppe Vanella, Inna Chen, Maarten F. Bijlsma, Vytautas Kiudelis, Stefano Landi, Ben Schöttker, Chiara Corradi, Nathalia Giese, Rudolf Kaaks, Giulia Peduzzi, Péter Hegyi, Luca Morelli, Niccolò Furbetta, Pavel Soucek, Anna Latiano, Renata Talar-Wojnarowska, Sidsel C. Lindgaard, Frederike Dijk, Anna Caterina Milanetto, Francesca Tavano, Klara Cervena, Bálint Erőss, Sabrina G. Testoni, Judith H.E. Verhagen-Oldenampsen, Ewa Małecka-Wojciesko, Eithne Costello, Roberto Salvia, Evaristo Maiello, Stefano Ermini, Cosimo Sperti, Bernd Holleczek, Francesco Perri, Jurgita Skieceviciene, Livia Archibugi, Maurizio Lucchesi, Cosmeri Rizzato, and Federico Canzian
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chronic pancreatitis ,Pancreatic cancer ,Pancreatic ductal adenocarcinoma ,Pancreatic neuroendocrine tumors ,Intraductal papillary mucinous neoplasms ,Chronic pancreatitis ,Genetic epidemiology ,Consortium ,genetic epidemiology ,pancreatic neuroendocrine tumors ,SDG 3 - Good Health and Well-being ,Oncology ,pancreatic ductal adenocarcinoma ,consortium ,Hematology ,intraductal papillary mucinous neoplasms - 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.
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- 2023
4. Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk
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Matteo Giaccherini, Riccardo Farinella, Manuel Gentiluomo, Beatrice Mohelnikova‐Duchonova, Emanuele Federico Kauffmann, Matteo Palmeri, Faik Uzunoglu, Pavel Soucek, Dalius Petrauskas, Giulia Martina Cavestro, Romanas Zykus, Silvia Carrara, Raffaele Pezzilli, Marta Puzzono, Andrea Szentesi, John Neoptolemos, Livia Archibugi, Orazio Palmieri, Anna Caterina Milanetto, Gabriele Capurso, Casper H. J. van Eijck, Hannah Stocker, Rita T. Lawlor, Pavel Vodicka, Martin Lovecek, Jakob R. Izbicki, Francesco Perri, Rita Kupcinskaite‐Noreikiene, Mara Götz, Juozas Kupcinskas, Tamás Hussein, Péter Hegyi, Olivier R. Busch, Thilo Hackert, Andrea Mambrini, Hermann Brenner, Maurizio Lucchesi, Daniela Basso, Francesca Tavano, Ben Schöttker, Giuseppe Vanella, Stefania Bunduc, Ágota Petrányi, Stefano Landi, Luca Morelli, Federico Canzian, Daniele Campa, Surgery, CCA - Cancer Treatment and Quality of Life, and AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
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Cancer Research ,single nucleotide polymorphisms ,Oncology ,SDG 3 - Good Health and Well-being ,association study ,genetic susceptibility ,pancreatic ductal adenocarcinoma ,03.02. Klinikai orvostan - 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 this study. We conducted a multi-phase study analysing 7,745 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 non-coding 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. This article is protected by copyright. All rights reserved.
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- 2023
5. Genetic Polymorphisms Involved in Mitochondrial Metabolism and Pancreatic Cancer Risk
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Raffaele Pezzilli, Pavel Vodicka, Andrea Párniczky, George Theodoropoulos, Renata Talar-Wojnarowska, Paolo Giorgio Arcidiacono, Ugo Boggi, Bálint Erőss, Ewa Małecka-Panas, Martin Oliverius, Daniele Campa, Rita T. Lawlor, Faik G. Uzunoglu, Maria Chiara Petrone, Livia Archibugi, Stefania Bunduc, Edita Kreivenaite, Beatrice Mohelnikova-Duchonova, Manuel Gentiluomo, Maria Liliana Piredda, Giulia Peduzzi, Thilo Hackert, Francesco Perri, Giuseppe Vanella, Olivier R. Busch, Hermann Brenner, Pavel Soucek, John P. Neoptolemos, Martin Schneider, Sabrina Gloria Giulia Testoni, Luca Morelli, Krzysztof Jamroziak, Federico Canzian, Daniela Basso, Silvia Carrara, Maria Gazouli, Juozas Kupcinskas, Konstantinos Georgiou, Xīn Gào, Claudio Pasquali, Cosimo Sperti, Evaristo Maiello, Vytautas Kiudelis, Mara Götz, Martin Loos, Gabriele Capurso, Francesca Bazzocchi, Martin Lovecek, Bas Bueno-de-Mesquita, Viktor Hlavac, Niccola Funel, Roel Vermeulen, Maarten F. Bijlsma, Anna Caterina Milanetto, Ye Lu, Giulia Martina Cavestro, Stefano Ermini, Andrea Szentesi, Jakob R. Izbicki, William Greenhalf, Francesca Tavano, Feng Guo, Marta Puzzono, Domenica Gioffreda, Péter Hegyi, Eithne Costello, Casper H.J. van Eijck, Stefano Landi, Peduzzi, G., Gentiluomo, M., Tavano, F., Arcidiacono, P. G., Ermini, S., Vodicka, P., Boggi, U., Cavestro, G. M., Capurso, G., Morelli, L., Milanetto, A. C., Pezzilli, R., Lawlor, R. T., Carrara, S., Lovecek, M., Soucek, P., Guo, F., Hackert, T., Uzunoglu, F. G., Gazouli, M., Parniczky, A., Kupcinskas, J., Bijlsma, M. F., Bueno-De-Mesquita, B., Vermeulen, R., van Eijck, C. H. J., Jamroziak, K., Talar-Wojnarowska, R., Greenhalf, W., Gioffreda, D., Petrone, M. C., Landi, S., Archibugi, L., Puzzono, M., Funel, N., Sperti, C., Piredda, M. L., Mohelnikova-Duchonova, B., Lu, Y., Hlavac, V., Gao, X., Schneider, M., Izbicki, J. R., Theodoropoulos, G., Bunduc, S., Kreivenaite, E., Busch, O. R., Malecka-Panas, E., Costello, E., Perri, F., Giulia Testoni, S. G., Vanella, G., Pasquali, C., Oliverius, M., Brenner, H., Loos, M., Gotz, M., Georgiou, K., Eross, B., Maiello, E., Szentesi, A., Bazzocchi, F., Basso, D., Neoptolemos, J. P., Hegyi, P., Kiudelis, V., Canzian, F., Campa, D., Surgery, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers, Center of Experimental and Molecular Medicine, and AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
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Mitochondrial DNA ,Pancreatic ductal adenocarcinoma ,Nuclear gene ,endocrine system diseases ,Epidemiology ,Biology ,SUSCEPTIBILITY ,Polymorphism, Single Nucleotide ,SDG 3 - Good Health and Well-being ,Pancreatic cancer ,medicine ,Humans ,03.02. Klinikai orvostan ,Genetic variability ,Carcinoma, Pancreatic Ductal ,Case-Control Studies ,Genetic Variation ,Genome, Mitochondrial ,Mitochondria ,Pancreatic Neoplasms ,Polymorphism ,GENOME-WIDE ASSOCIATION ,Gene ,Genetics ,Genome ,GENOME-WIDE ASSOCIATION, SUSCEPTIBILITY ,Carcinoma ,Single Nucleotide ,Metabolism ,medicine.disease ,digestive system diseases ,Mitochondrial ,Oncology ,Pancreatic Ductal - 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.
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- 2021
6. Association of variants of genes involved in mitochondrial metabolism with pancreatic cancer risk
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George Theodoropoulos, Beatrice Mohelnikova-Duchonova, Faik G. Uzunoglu, Ewa Małecka-Panas, Paolo Giorgio Arcidiacono, Stefania Bunduc, Evaristo Maiello, Edita Kreivėnaitė, Rudolf Cornelis Henricus Vermeulen, Renata Talar-Wojnarowska, Raffaele Pezzilli, Daniele Campa, Bálint Erőss, Claudio Pasquali, Gabriele Capurso, Marta Puzzono, John P. Neoptolemos, Jakob R. Izbicki, Martin Loos, Ludmila Vodickova, Giuseppe Vanella, William Greenhalf, Giulia Martina Cavestro, Maarten F. Bijlsma, Martin Oliverius, Maria Liliana Piredda, Maria Chiara Petrone, Francesca Tavano, Olivier R. Busch, Luca Morelli, Sabrina Gloria Giulia Testoni, Andrea Szentesi, Feng Guo, Maria Gazouli, Pavel Soucek, Rita T. Lawlor, Andrea Párniczky, Francesco Perri, Federico Canzian, Viktor Hlavac, Xin Gao, Vytautas Kiudelis, Daniela Basso, Martin Lovecek, Konstantinos Georgiou, Herman Brenner, Giulia Peduzzi, Silvia Carrara, Ugo Boggi, Krzysztof Jamroziak, Péter Hegyi, Casper H.J. van Eijck, Eithne Costello, Livia Archibugi, Juozas Kupcinskas, Cosimo Sperti, Mara Götz, Stefano Ermini, Domenica Gioffreda, Stefano Landi, Matthias B. Schneider, Bas Bueno-de-Mesquita, Francesca Bazzocchi, Thilo Hackert, Manuel Gentiluomo, Niccola Funel, and Anna Caterina Milanetto
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Hepatology ,business.industry ,Endocrinology, Diabetes and Metabolism ,Pancreatic cancer ,Gastroenterology ,Cancer research ,Medicine ,Metabolism ,business ,medicine.disease ,Gene - Published
- 2021
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