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112 results on '"Cavestro, G."'

1. A pleiotropy scan to discover new susceptibility loci for pancreatic ductal adenocarcinoma

Author

Giaccherini, M, primary, Rende, M, additional, Gentiluomo, M, additional, Corradi, C, additional, Archibugi, L, additional, Ermini, S, additional, Maiello, E, additional, Morelli, L, additional, van Eijck, C H J, additional, Cavestro, G M, additional, Schneider, M, additional, Mickevicius, A, additional, Adamonis, K, additional, Basso, D, additional, Hlavac, V, additional, Gioffreda, D, additional, Talar-Wojnarowska, R, additional, Schöttker, B, additional, Lovecek, M, additional, Vanella, G, additional, Gazouli, M, additional, Uno, M, additional, Malecka-Wojciesko, E, additional, Vodicka, P, additional, Goetz, M, additional, Bijlsma, M F, additional, Petrone, M C, additional, Bazzocchi, F, additional, Kiudelis, M, additional, Szentesi, A, additional, Carrara, S, additional, Nappo, G, additional, Brenner, H, additional, Milanetto, A C, additional, Soucek, P, additional, Katzke, V, additional, Peduzzi, G, additional, Rizzato, C, additional, Pasquali, C, additional, Chen, X, additional, Capurso, G, additional, Hackert, T, additional, Bueno-de-Mesquita, B, additional, Uzunoglu, F G G, additional, Hegyi, P, additional, Greenhalf, W, additional, Theodoropoulos, G E E, additional, Sperti, C, additional, Perri, F, additional, Oliverius, M, additional, Mambrini, A, additional, Tavano, F, additional, Farinella, R, additional, Arcidiacono, P G, additional, Lucchesi, M, additional, Bunduc, S, additional, Kupcinskas, J, additional, Di Franco, G, additional, Stocker, S, additional, Neoptolemos, J P, additional, Bambi, F, additional, Jamroziak, K, additional, Testoni, S G G, additional, Aoki, M N, additional, Mohelnikova-Duchonova, B, additional, Izbicki, J R, additional, Pezzilli, R, additional, Lawlor, R T, additional, Kauffmann, E F, additional, López de Maturana, E, additional, Malats, N, additional, Canzian, F, additional, and Campa, D, additional

Published
2024
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2. Evaluation of Artificial Intelligence-Assisted Colonoscopy for Adenoma Detection in Lynch Syndrome: a multicentre randomized controlled trial (Timely study)

Author

Ortiz, O., additional, Rivero-Sánchez, L., additional, Gimeno-Garcia, A., additional, Vicente, J. Lopez, additional, Martínez, R. Jover, additional, Ricciardiello, L., additional, Puig, I., additional, Huneburg, R., additional, Herraiz Bayod, M. T., additional, Abalos, J. Gordillo, additional, Daca-Alvarez, M., additional, Tejpar, S., additional, Bisschops, R., additional, Repici, A., additional, Herrero, J., additional, David, R., additional, Cid, L., additional, Alvarez, V., additional, Romero, C., additional, Huerta, A., additional, Betes, M. T., additional, Riu, F., additional, Carrillo, M., additional, Cavestro, G. M., additional, Balaguer, F., additional, and Pellisé, M., additional

Published
2024
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3. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement

Author

Moller, P, Seppala, T, Ahadova, A, Crosbie, E, Holinski-Feder, E, Scott, R, Haupt, S, Moslein, G, Winship, I, Broeke, S, Kohut, K, Ryan, N, Bauerfeind, P, Thomas, L, Evans, D, Aretz, S, Sijmons, R, Half, E, Heinimann, K, Horisberger, K, Monahan, K, Engel, C, Cavestro, G, Fruscio, R, Abu-Freha, N, Zohar, L, Laghi, L, Bertario, L, Bonanni, B, Tibiletti, M, Lino-Silva, L, Vaccaro, C, Valle, A, Rossi, B, da Silva, L, de Oliveira Nascimento, I, Rossi, N, Debniak, T, Mecklin, J, Bernstein, I, Lindblom, A, Sunde, L, Nakken, S, Heuveline, V, Burn, J, Hovig, E, Kloor, M, Sampson, J, Dominguez-Valentin, M, Moller P., Seppala T. T., Ahadova A., Crosbie E. J., Holinski-Feder E., Scott R., Haupt S., Moslein G., Winship I., Broeke S. W. B. -T., Kohut K. E., Ryan N., Bauerfeind P., Thomas L. E., Evans D. G., Aretz S., Sijmons R. H., Half E., Heinimann K., Horisberger K., Monahan K., Engel C., Cavestro G. M., Fruscio R., Abu-Freha N., Zohar L., Laghi L., Bertario L., Bonanni B., Tibiletti M. G., Lino-Silva L. S., Vaccaro C., Valle A. D., Rossi B. M., da Silva L. A., de Oliveira Nascimento I. L., Rossi N. T., Debniak T., Mecklin J. -P., Bernstein I., Lindblom A., Sunde L., Nakken S., Heuveline V., Burn J., Hovig E., Kloor M., Sampson J. R., Dominguez-Valentin M., Moller, P, Seppala, T, Ahadova, A, Crosbie, E, Holinski-Feder, E, Scott, R, Haupt, S, Moslein, G, Winship, I, Broeke, S, Kohut, K, Ryan, N, Bauerfeind, P, Thomas, L, Evans, D, Aretz, S, Sijmons, R, Half, E, Heinimann, K, Horisberger, K, Monahan, K, Engel, C, Cavestro, G, Fruscio, R, Abu-Freha, N, Zohar, L, Laghi, L, Bertario, L, Bonanni, B, Tibiletti, M, Lino-Silva, L, Vaccaro, C, Valle, A, Rossi, B, da Silva, L, de Oliveira Nascimento, I, Rossi, N, Debniak, T, Mecklin, J, Bernstein, I, Lindblom, A, Sunde, L, Nakken, S, Heuveline, V, Burn, J, Hovig, E, Kloor, M, Sampson, J, Dominguez-Valentin, M, Moller P., Seppala T. T., Ahadova A., Crosbie E. J., Holinski-Feder E., Scott R., Haupt S., Moslein G., Winship I., Broeke S. W. B. -T., Kohut K. E., Ryan N., Bauerfeind P., Thomas L. E., Evans D. G., Aretz S., Sijmons R. H., Half E., Heinimann K., Horisberger K., Monahan K., Engel C., Cavestro G. M., Fruscio R., Abu-Freha N., Zohar L., Laghi L., Bertario L., Bonanni B., Tibiletti M. G., Lino-Silva L. S., Vaccaro C., Valle A. D., Rossi B. M., da Silva L. A., de Oliveira Nascimento I. L., Rossi N. T., Debniak T., Mecklin J. -P., Bernstein I., Lindblom A., Sunde L., Nakken S., Heuveline V., Burn J., Hovig E., Kloor M., Sampson J. R., and Dominguez-Valentin M.

Abstract

The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an “average sex “or a pathogenic variant in an “average Lynch syndrome gene” and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear process from increased cellular division to localized cancer to metastasis. In addition, in the Lynch syndromes (LS) we now recognize a dynamic balance between two stochastic processes: MSI producing abnormal cells, and the host’s adaptive immune system’s ability to remove them. The latter may explain why colonoscopy surveillance does not reduce the incidence of colorectal cancer in LS, while it may improve the prognosis. Most early onset colon, endometrial and ovarian cancers in LS are now cured and most cancer related deaths are after subsequent cancers in other organs. Aspirin reduces the incidence of colorectal and other cancers in LS. Immunotherapy increases the host immune system’s capability to destroy MSI cancers. Colonoscopy surveillance, aspirin prevention and immunotherapy represent major steps forward in personalized precision medicine to prevent and cure inherited MSI cancer.

Published
2023

4. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Author

Dominguez-Valentin, M, Haupt, S, Seppälä, T, Sampson, J, Sunde, L, Bernstein, I, Jenkins, M, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, D, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Dębniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, L, Laish, I, Vainer, E, Vaccaro, C, Carraro, D, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, B, Bohorquez, M, Cavestro, G, Lino-Silva, L, Horisberger, K, Tibiletti, M, Nascimento, I, Thomas, H, Rossi, N, Apolinário da Silva, L, Zaránd, A, Ruiz-Bañobre, J, Heuveline, V, Mecklin, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Therkildsen, C, Madsen, M, Burgdorf, S, Hopper, J, Win, A, Haile, R, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, P, Figueiredo, J, Buchanan, D, Thibodeau, S, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schröck, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hüneburg, R, Redler, S, Büttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, J, Moreira, L, Sánchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Dominguez-Valentin M., Haupt S., Seppälä T. T., Sampson J. R., Sunde L., Bernstein I., Jenkins M. A., Engel C., Aretz S., Nielsen M., Capella G., Balaguer F., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. P., Sijmons R., Laghi L., Della Valle A., Heinimann K., Dębniak T., Fruscio R., Lopez-Koestner F., Alvarez-Valenzuela K., Katz L. H., Laish I., Vainer E., Vaccaro C., Carraro D. M., Monahan K., Half E., Stakelum A., Winter D., Kennelly R., Gluck N., Sheth H., Abu-Freha N., Greenblatt M., Rossi B. M., Bohorquez M., Cavestro G. M., Lino-Silva L. S., Horisberger K., Tibiletti M. G., Nascimento I. d., Thomas H., Rossi N. T., Apolinário da Silva L., Zaránd A., Ruiz-Bañobre J., Heuveline V., Mecklin J. P., Pylvänäinen K., Renkonen-Sinisalo L., Lepistö A., Peltomäki P., Therkildsen C., Madsen M. G., Burgdorf S. K., Hopper J. L., Win A. K., Haile R. W., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., von Knebel Doeberitz M., Loeffler M., Rahner N., Schröck E., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Hüneburg R., Redler S., Büttner R., Weitz J., Pineda M., Duenas N., Vidal J. B., Moreira L., Sánchez A., Hovig E., Nakken S., Green K., Lalloo F., Hill J., Crosbie E., Mints M., Goldberg Y., Dominguez-Valentin, M, Haupt, S, Seppälä, T, Sampson, J, Sunde, L, Bernstein, I, Jenkins, M, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, D, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Dębniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, L, Laish, I, Vainer, E, Vaccaro, C, Carraro, D, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, B, Bohorquez, M, Cavestro, G, Lino-Silva, L, Horisberger, K, Tibiletti, M, Nascimento, I, Thomas, H, Rossi, N, Apolinário da Silva, L, Zaránd, A, Ruiz-Bañobre, J, Heuveline, V, Mecklin, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Therkildsen, C, Madsen, M, Burgdorf, S, Hopper, J, Win, A, Haile, R, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, P, Figueiredo, J, Buchanan, D, Thibodeau, S, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schröck, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hüneburg, R, Redler, S, Büttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, J, Moreira, L, Sánchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Dominguez-Valentin M., Haupt S., Seppälä T. T., Sampson J. R., Sunde L., Bernstein I., Jenkins M. A., Engel C., Aretz S., Nielsen M., Capella G., Balaguer F., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. P., Sijmons R., Laghi L., Della Valle A., Heinimann K., Dębniak T., Fruscio R., Lopez-Koestner F., Alvarez-Valenzuela K., Katz L. H., Laish I., Vainer E., Vaccaro C., Carraro D. M., Monahan K., Half E., Stakelum A., Winter D., Kennelly R., Gluck N., Sheth H., Abu-Freha N., Greenblatt M., Rossi B. M., Bohorquez M., Cavestro G. M., Lino-Silva L. S., Horisberger K., Tibiletti M. G., Nascimento I. d., Thomas H., Rossi N. T., Apolinário da Silva L., Zaránd A., Ruiz-Bañobre J., Heuveline V., Mecklin J. P., Pylvänäinen K., Renkonen-Sinisalo L., Lepistö A., Peltomäki P., Therkildsen C., Madsen M. G., Burgdorf S. K., Hopper J. L., Win A. K., Haile R. W., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., von Knebel Doeberitz M., Loeffler M., Rahner N., Schröck E., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Hüneburg R., Redler S., Büttner R., Weitz J., Pineda M., Duenas N., Vidal J. B., Moreira L., Sánchez A., Hovig E., Nakken S., Green K., Lalloo F., Hill J., Crosbie E., Mints M., and Goldberg Y.

Abstract

Background: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods: The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings: Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation: In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding: We ackno

Published
2023

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

Author

Corradi, Chiara, primary, Lencioni, G., additional, Gentiluomo, M., additional, Latiano, A., additional, Kiudelis, G., additional, van Eijck, C., additional, Marta, K., additional, Lawlor, R., additional, Tavano, F., additional, Boggi, U., additional, Dijk, F., additional, Cavestro, G., additional, Vermeulen, R., additional, Hackert, T., additional, Petrone, M., additional, Uzunoglu, F., additional, Archibugi, L., additional, Izbicki, J., additional, Mesquita, B. Bueno-de-, additional, Morelli, L., additional, Zerbi, A., additional, Stocker, H., additional, Talar-Wojnarowska, R., additional, Di Franco, G., additional, Hegyi, P., additional, Sperti, C., additional, Carrara, S., additional, Capurso, G., additional, Gazouli, M., additional, Brenner, H., additional, Bunduc, S., additional, Busch, O., additional, Landi, S., additional, Perri, F., additional, Oliverius, M., additional, Goetz, M., additional, Scognamiglio, P., additional, Mambrini, A., additional, Arcidiacono, P., additional, Kreivenaite, E., additional, Kupcinskas, J., additional, Hussein, T., additional, Ermini, S., additional, Milanetto, A., additional, Vodicka, P., additional, Kiudelis, V., additional, Hlavac, V., additional, Soucek, P., additional, Theodoropoulos, G., additional, Basso, D., additional, Aoki, M., additional, Pezzilli, R., additional, Pasquali, C., additional, Chammas, R., additional, Testoni, S., additional, Mohelníková-Duchoňová, B., additional, Lucchesi, M., additional, Neoptolemos, J., additional, Canzian, F., additional, and Campa, D., additional

Published
2022
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6. Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians

Author

Gentiluomo, Manuel, primary, Piccardi, M., additional, Bertoncini, S., additional, Costello, E., additional, Morelli, L., additional, Landi, S., additional, Milanetto, A., additional, Schöttker, B., additional, Di Franco, G., additional, Ermini, S., additional, Scarpa, A., additional, Izbicki, J., additional, Pezzilli, R., additional, Uzunoglu, F., additional, Talar-Wojnarowska, R., additional, Goetz, M., additional, Lawlor, R., additional, Aoki, M., additional, Bueno-de-Mesquita, B., additional, Busch, O., additional, Chammas, R., additional, Tavano, F., additional, van Laarhoven, H., additional, Cavestro, G., additional, Stocker, H., additional, Bazzocchi, F., additional, Pasquali, C., additional, Chen, X., additional, Puzzono, M., additional, Ponz de Leon Pisani, R., additional, Sperti, C., additional, Lovecek, M., additional, Erőss, B., additional, Basso, D., additional, Kupcinskas, J., additional, Vanagas, T., additional, Janciauskas, D., additional, Poskiene, L., additional, Tacelli, M., additional, Duchonova, B. Mohelnikova, additional, Perri, F., additional, Latiano, A., additional, Mambrini, A., additional, Maiello, E., additional, Hegyi, P., additional, Szentesi, A., additional, Bunduc, S., additional, Hussein, T., additional, Arcidiacono, P., additional, Boggi, U., additional, Hackert, T., additional, Soucek, P., additional, Lucchesi, M., additional, Ginocchi, L., additional, Gazouli, M., additional, Zerbi, A., additional, Roth, S., additional, Jamroziak, K., additional, Carrara, S., additional, Hlavac, V., additional, Oliverius, M., additional, Neoptolemos, J., additional, Theodoropoulos, G., additional, van Eijck, C., additional, Dannemann, M., additional, Canzian, F., additional, Tofanelli, S., additional, and Campa, D., additional

Published
2022
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7. Polymorphisms in Transcription Factor Binding Sites and Enhancers as Pancreatic Ductal Adenocarcinoma Risk Factors

Author

Unal, Pelin, primary, Lu, Y., additional, Aoki, M., additional, Chammas, R., additional, Gazouli, M., additional, Theodoropoulos, G., additional, van Eijck, C., additional, Bijlsma, M., additional, Dijk, F., additional, Bueno-de-Mesquita, B., additional, Kupcinskas, J., additional, Kiudelis, V., additional, Kreivenaite, E., additional, Kondrackiene, J., additional, Malecka-Wojciesko, E., additional, Talar-Wojnarowska, R., additional, Kapszewicz, M., additional, Hegyi, P., additional, Szentesi, A., additional, Eross, B., additional, Bunduc, S., additional, Mohelnikova-Duchonova, B., additional, Soucek, P., additional, Hlavac, V., additional, Oliverius, M., additional, Vodickova, L., additional, Cervena, K., additional, Hackert, T., additional, Neoptolemos, J., additional, Goetz, M., additional, Uzunoglu, F., additional, Izbicki, J., additional, Stocker, H., additional, Schöttker, B., additional, Brenner, H., additional, Perri, F., additional, Tavano, F., additional, Palmieri, O., additional, Bazzocchi, F., additional, Maiello, E., additional, Testoni, S., additional, Petrone, M., additional, Arcidiacono, P., additional, Landi, S., additional, Ermini, S., additional, Bambi, F., additional, Boggi, U., additional, Capurso, G., additional, Archibugi, L., additional, Vanella, G., additional, Cavestro, G., additional, Morelli, L., additional, Di Franco, G., additional, Milanetto, A., additional, Sperti, C., additional, Pasquali, C., additional, Basso, D., additional, Pezzilli, R., additional, Lawlor, R., additional, Capretti, G., additional, Carrara, S., additional, Campa, D., additional, and Canzian, F., additional

Published
2022
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8. Digestive diseases. 2022-2025 edition

Author

Abenavoli Monteblanco, L., Aghemo, A. M., Alvaro, D., Annibale, B., Arcidiacono, P. G., Ardizzone, S., Armuzzi, A., Azzaroli, F., Badiali, D., Baiocchi, L., Baldoni, M., Barone, M., Bassotti, G., Bellini, M., Benedetti, A., Bertino, G., Biagi, F., Biancone, L., Brilanti, S., Bugianesi, E., Burra, P., Calabrese, E., Calvaruso, V., Cammarata, G., Caprioli, F. A., Carbone, M., Cardinale, V., Castiglione, F., Catanzaro, R., Cavestro, G. M., Cazzagon, N., Ciancio, A., Consolo, P., Corleto, V. D., Crocè, S. L., Cuomo, R., de Bortoli, N., Del Vecchio Blanco, G., Dell'Era, A., Di Leo, A., Di Marco, V., Dore, P. M., Eusebi, L. H. U., Fabris, L., Facciorusso, A., Fantini, M. C., Federico, A., Fries, W., Fuccio, L., Fusaroli, P., Gabrielli, A., Galli, A., Giannini, E. G., Corradini, S. G., Gravina, A. G., Grassi, L., Guarino, M. P., Invernizzi, P., Iovino, P., Lahner, E., Lampertico, P., Larussa, T., Latella, G., Luzza, F., Maconi, G. E., Marabotto, E., Marchi, S., Marzioni, M., Merli, M., Milani, S., Montagnani, M., Morelli, O., Morisco, F., Nardone, G. A. P., Pallotta, N., Papa, A., Penagini, R., Petta, S., Picarelli, A., Principi, M., Rapaccini, G. L., Pepici, A., Ricci, C., Ricciardiello, L., Ridola, L., Rispo, A., Romano, M., Rumi, M. G., Russo, F. P., Saracco, G. M., Sarnelli, G., Savarino, E. V., Severi, C., Svegliati Baroni, G., Tarocchi, M., Vecchi, M., Viscido, A., Zagari, R. M., and Zingone, F.

Subjects
colon, liver diseases, diseases of the esophagus, stomach, duodenum, liver diseases, diseases of the biliary tract , pancreas, small intestine, colon, duodenum, diseases of the biliary tract, pancreas, small intestine, diseases of the esophagus, stomach
Published
2022

9. Exploring the Neandertal legacy of pancreatic ductal adenocarcinoma risk in Eurasians

Author

Gentiluomo, M. Piccardi M., Bertoncini, S., Costello, E., Morelli, L., Landi, S., Milanetto, A. C., Schöttker, B., Di Franco, G., Ermini, S., Scarpa, A., Izbicki, J., Pezzilli, R., Uzunoglu, F., Talar-Wojnarowska, R., Goetz, M., Lawlor, R., Aoki, M., Bueno-de-Mesquita, B., Busch, O., Chammas, R., Tavano, F., van Laarhoven, H., Cavestro, G., Stocker, H., Bazzocchi, F., Pasquali, C., Chen, X., Puzzono, M., Ponz de Leon Pisani, R., Brenner, H., Vodickova, L., Sperti, C., Lovecek, L., Erőss, B., Basso, D., Kupcinskas, J., Vanagas, T., Janciauskas, D., Poskiene, L., Tacelli, M., Mohelnikova Duchonova, B., Capurso, G., Perri, F., Latiano, A., Mambrini, A., Maiello, E., Hegyi, P., Szentesi, A., Bunduc, S., Hussein, T., Arcidiacono, P., Boggi, U., Hackert, T., Archibugi, L., Soucek, P., Vanella, G., Lucchesi, M., Ginocchi, L., Gazouli, M., Zerbi, A., Roth, S., Jamroziak, K., Carrara, S., Hlavac, V., Oliverius, M., Neoptolemos, J., Theodoropoulos, G., van Eijck, C., Dannemann, M., Canzian, F., Tofanelli, S., and Campa, D.

Published
2022

10. Polymorphisms in transcription factor binding sites and enhancers as pancreatic ductal adenocarcinoma risk factors

Author

Unal, P., Lu, Y., Aoki, M., Chammas, R., Gazouli, M., Theodoropoulos, G., van Eijck, C., Bijlsma, M., Dijk, F., Bueno-de-Mesquita, B., Kupcinskas, J., Kiudelis, V., Kreivenaite, E., Kondrackiene, J., Malecka-Wojciesko, E., Talar-Wojnarowska, R., Kapszewicz, M., Hegyi, P., Szentesi, A., Eross, B., Bunduc, S., Mohelnikova-Duchonova, B., Soucek, P., Hlavac, V., Oliverius, M., Vodickova, L., Cervena, K., Hackert, T., Neoptolemos, J., Goetz, M., Uzunoglu, F., Izbicki, J., Stocker, H., Schöttker, B., Brenner, H., Perri, F., Tavano, F., Palmieri, O., Bazzocchi, F., Maiello, E., Testoni, S., Petrone, M., Arcidiacono, P., Landi, S., Ermini, S., Bambi, F., Boggi, U., Capurso, G., Archibugi, L., Vanella, G., Cavestro, G., Morelli, L., Di Franco, G., Milanetto, A. C., Sperti, C., Pasquali, C., Basso, D., Pezzilli, R., Lawlor, R., Capretti, G., Carrara, S., Campa, D., and Canzian, F.

Subjects
Hepatology, Endocrinology, Diabetes and Metabolism, Gastroenterology
Published
2022

11. Decline in the incidence of colorectal cancer and the associated mortality in young Italian adults

Author

Zorzi M., Cavestro G. M., Guzzinati S., Dal Maso L., Rugge M., Mazzoleni G., Morrone G., Caputo E., Galasso R., Citarella A., Sampietro G., Magoni M., Cavalieri D'Oro L., Ardizzone A., D'Argenzio A., Sciacca S., Pisani S., Ricci P., Giorno A., Ferretti S., Palma F., Serraino D., Iacovacci S., Quarta F., Filiberti R. A., Vitarelli S., Russo A. G., Carrozzi G., D'Orsi G., Fusco M., Sini G. M., Vitale F., Michiara M., Boschetti L., Chiaranda G., Rosso S., Tumino R., Mangone L., Valenti Clemente S., Falcini F., Caiazzo A. L., Cesaraccio R., Madeddu A., Fanetti A. C., Minerba S., Caldarella A., Candela G., Piffer S., Stracci F., Tagliabue G., Tolin M., Brustolin A., Castelli M., Zorzi M., Cavestro G.M., Guzzinati S., Dal Maso L., Rugge M., Mazzoleni G., Morrone G., Caputo E., Galasso R., Citarella A., Sampietro G., Magoni M., Cavalieri D'Oro L., Ardizzone A., D'Argenzio A., Sciacca S., Pisani S., Ricci P., Giorno A., Ferretti S., Palma F., Serraino D., Iacovacci S., Quarta F., Filiberti R.A., Vitarelli S., Russo A.G., Carrozzi G., D'Orsi G., Fusco M., Sini G.M., Vitale F., Michiara M., Boschetti L., Chiaranda G., Rosso S., Tumino R., Mangone L., Valenti Clemente S., Falcini F., Caiazzo A.L., Cesaraccio R., Madeddu A., Fanetti A.C., Minerba S., Caldarella A., Candela G., Piffer S., Stracci F., Tagliabue G., Tolin M., Brustolin A., Castelli M., Zorzi, M., Cavestro, G. M., Guzzinati, S., Dal Maso, L., and Rugge, M

Subjects
0301 basic medicine, Colon, Population, Socio-culturale, colorectal cancer, colorectal cancer screening, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Epidemiology of cancer, Medicine, Humans, Risk factor, education, education.field_of_study, cancer epidemiology, Colorectal cancer, colorectal cancer screening, business.industry, Incidence (epidemiology), Mortality rate, screening, Incidence, Gastroenterology, Cancer, medicine.disease, Obesity, Annual Percent Change, Europe, 030104 developmental biology, Italy, 030211 gastroenterology & hepatology, epidemiology, business, Colorectal Neoplasms, Demography, cancer epidemiology, SEER Program
Abstract

Objective The incidence of colorectal cancer (CRC) declines among subjects aged 50 years and above. An opposite trend appears among younger adults. In Europe, data on CRC incidence among younger adults are lacking. We therefore aimed to analyse European trends in CRC incidence and mortality in subjects younger than 50 years. Design Data on age-related CRC incidence and mortality between 1990 and 2016 were retrieved from national and regional cancer registries. Trends were analysed by Joinpoint regression and expressed as annual percent change. Results We retrieved data on 143.7 million people aged 20–49 years from 20 European countries. Of them, 187 918 (0.13%) were diagnosed with CRC. On average, CRC incidence increased with 7.9% per year among subjects aged 20–29 years from 2004 to 2016. The increase in the age group of 30–39 years was 4.9% per year from 2005 to 2016, the increase in the age group of 40–49 years was 1.6% per year from 2004 to 2016. This increase started earliest in subjects aged 20–29 years, and 10–20 years later in those aged 30–39 and 40–49 years. This is consistent with an age-cohort phenomenon. Although in most European countries the CRC incidence had risen, some heterogeneity was found between countries. CRC mortality did not significantly change among the youngest adults, but decreased with 1.1%per year between 1990 and 2016 and 2.4% per year between 1990 and 2009 among those aged 30–39 years and 40–49 years, respectively. Conclusion CRC incidence rises among young adults in Europe. The cause for this trend needs to be elucidated. Clinicians should be aware of this trend. If the trend continues, screening guidelines may need to be reconsidered.

Published
2020

12. Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (Genetics in Medicine, (2020), 22, 1, (15-25), 10.1038/s41436-019-0596-9)

Author

Dominguez-Valentin M., Sampson J. R., Seppala T. T., ten Broeke S. W., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Della Valle A., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., Knebel Doeberitz M., Loeffler M., Rahner N., Schackert H. K., Steinke-Lange V., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Wadt K., Therkildsen C., Okkels H., Ketabi Z., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Frayling I. M., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Nielsen M., Moller P., Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., Mecklin, J. -P., Nielsen, M., and Moller, P.

Abstract

The original version of this Article did not contain details of Dutch Cancer Society (DCS) funding (grant number UL 2017-8223) in the Acknowledgements section. This has now been corrected in both the PDF and HTML versions of the Article.

Published
2020

13. Association of genetic variants affecting microRNAs and pancreatic cancer risk

Author

Lu, Y., Corradi, C., Gentiluomo, M., Theodoropoulos, G., Roth, S., Maiello, E., Morelli, L., Archibugi, L., Izbicki, J. R., Sarlos, P., Kiudelis, V., Oliverius, M., Nobrega Aoki, M., Vashist, Y., van Eijck, C. H. J., Gazouli, M., Talar-Wojnarowska, R., Mambrini, A., Pezzilli, R., Bueno-de-Mesquita, B., Hegyi, P., Soucek, P., Neoptolemos, J. P., Di Franco, G., Sperti, C., Kauffmann, E. F., Uzunoglu, F. G., Ermini, S., Małecka-Panas, E., Lucchesi, M., Vanella, G., Djik, F., Mohelnikova-Duchonova, B., Bambi, F., Petrone, M. C., Jamroziak, K., Guo, F., Kolarova, K., Capretti, G., Milanetto, A. C., Ginocchi, L., Lovecek, M., Puzzono, M., van Laarhoven, H. W. M., Carrara, S., Ivanauskas, A., Papiris, K., Basso, D., Arcidiacono, P., Izbeki, F., Chammas, R., Vodicka, P., Hackert, T., Pasquali, C., Piredda, M. L., Costello-Goldring, E., Cavestro, G. M., Szentesi, A., Tavano, F, Wlodarczyk, B., Brenner, H., Kreivenaite, E., Gao, X., Bunduc, S., Vermeulen, R. C. H., Schneider, M. A., Laitiano, A., Gioffreda, D., Testoni, S. G. G., Kupcinskas, J., Lawlor, R., Capurso, G., Malats, N., Campa, D., and Canzian, F.

Published
2021

14. Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Author

Dominguez-Valentin M., Sampson J. R., Moller P., Seppala T. T., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., Nielsen M., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Valle A. D., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., von Knebel Doeberitz M., Loeffler M., Rahner N., Weitz J., Steinke-Lange V., ten Broeke S. W., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Jensen L. H., Madsen M. B., Kroldrup L., Nilbert M., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Vidal J. B., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Dominguez-Valentin, M., Sampson, J. R., Moller, P., Seppala, T. T., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., Nielsen, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Valle, A. D., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., ten Broeke, S. W., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Jensen, L. H., Madsen, M. B., Kroldrup, L., Nilbert, M., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Vidal, J. B., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., and Mecklin, J. -P.

Subjects
Male, Adult, Oncology, Cancer Research, 2019-20 coronavirus outbreak, medicine.medical_specialty, sarcoma, Databases, Factual, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Sarcoma/diagnosis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, Aged, business.industry, Sarcoma, Syndrome, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, MSH2, 030220 oncology & carcinogenesis, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, 030211 gastroenterology & hepatology, business
Published
2020

15. Common variants in glyoxalase I do not inease chronic pancreatitis risk

Author

Kaune T., Hollenbach M., Keil B., Chen J. -M., Masson E., Becker C., Damm M., Ruffert C., Grutzmann R., Hoffmeister A., Te Morsche R. H. M., Cavestro G. M., Zuppardo R. A., Saftoiu A., Malecka-Panas E., Gluszek S., Bugert P., Lerch M. M., Weiss F. U., Zou W. -B., Liao Z., Hegyi P., Drenth J. P. H., Riedel J., Ferec C., Scholz M., Kirsten H., Toth A., Ewers M., Witt H., Griesmann H., Michl P., Rosendahl J., Kaune, T., Hollenbach, M., Keil, B., Chen, J. -M., Masson, E., Becker, C., Damm, M., Ruffert, C., Grutzmann, R., Hoffmeister, A., Te Morsche, R. H. M., Cavestro, G. M., Zuppardo, R. A., Saftoiu, A., Malecka-Panas, E., Gluszek, S., Bugert, P., Lerch, M. M., Weiss, F. U., Zou, W. -B., Liao, Z., Hegyi, P., Drenth, J. P. H., Riedel, J., Ferec, C., Scholz, M., Kirsten, H., Toth, A., Ewers, M., Witt, H., Griesmann, H., Michl, P., and Rosendahl, J.

Subjects
Glycation End Products, Advanced, Male, Genotype, Pancreatitis, Alcoholic, Lactoylglutathione Lyase, Middle Aged, Pyruvaldehyde, Polymorphism, Single Nucleotide, Oxidative Stress, Risk Factors, Pancreatitis, Chronic, Humans, Female, Genetic Predisposition to Disease, Reactive Oxygen Species, Genetic Association Studies
Abstract

Introduction Chronic pancreatitis (CP) may be caused by oxidative stress. An important source of reactive oxygen species (ROS) is the methylglyoxal-derived formation of advanced glycation endproducts (AGE). Methylglyoxal is detoxified by Glyoxalase I (GLO1). A reduction in GLO1 activity results in increased ROS. Single nucleotide polymorphisms (SNPs) of GLO1 have been linked to various inflammatory diseases. Here, we analyzed whether common GLO1 variants are associated with alcoholic (ACP) and non-alcoholic CP (NACP). Methods Using melting curve analysis, we genotyped a screening cohort of 223 ACP, 218 NACP patients, and 328 controls for 11 tagging SNPs defined by the SNPinfo LD TAG SNP Selection tool and the functionally relevant variant rs4746. For selected variants the cohorts were extended to up to 1,441 patient samples. Results In the ACP cohort, comparison of genotypes for rs1937780 between patients and controls displayed an ambiguous result in the screening cohort (p = 0.08). However, in the extended cohort of 1,441 patients no statistically significant association was found for the comparison of genotypes (p = 0.11), nor in logistic regression analysis (p = 0.214, OR 1.072, 95% CI 0.961-1.196). In the NACP screening cohort SNPs rs937662, rs1699012, and rs4746 displayed an ambiguous result when patients were compared to controls in the recessive or dominant model (p = 0.08, 0.08, and 0.07, respectively). Again, these associations were not confirmed in the extended cohorts (rs937662, dominant model: P = 0.07, logistic regression: P = 0.07, OR 1.207, 95% CI 0.985-1.480) or in the replication cohorts for rs4746 (Germany, p = 0.42, OR 1.080, 95% CI 0.673-1.124; France, p = 0.19, OR 0.90, 95% CI 0.76-1.06; China, p = 0.24, OR 1.18, 95% CI 0.90-1.54) and rs1699012 (Germany, Munich; p = 0.279, OR 0.903, 95% CI 0.750-1.087). Conclusions Common GLO1 variants do not increase chronic pancreatitis risk.

Published
2019

16. Associations between pancreatic expression quantitative trait loci (eQTLs) and pancreatic ductal adenocarcinoma risk

Author

Gentiluomo, M., Pistoni, L., Peduzzi, G., Lu, Y., Macauda, A., Hlavac, V., Vanella, G., Darvasi, E., Milanetto, A. C., Oliverius, M., Vashist, Y., Di Leo, M., Mohelnikova-Duchonova, B., Talar-Wojnarowska, R., Gheorghe, C., Petrone, M., Strobel, O., Arcidiacono, P., Vodickova, L., Szentesi, A., Capurso, G., Gajdan, L., Malleo, G., Theodoropoulos, G., Basso, D., Soucek, P., Brenner, H., Lawlor, R., Morelli, L., Ivanauskas, A., Kauffmann, E., Gazouli, M. Archibugi L., Nentwich, M., Lovecek, M., Cavestro, G., Vodicka, P., Landi, S., Tavano, F., Sperti, C., Hackert, T., Kupcinsckas, J., Pezzilli, R., Andriulli, A., Pollina, L., Kreivenaite, E., Gioffreda, D., Jamroziak, K., Hegyi, P., Izbicki, J., Testoni, S., Zuppardo, R., Bozzato, D., Neoptolemos, J., Canzian, F., and Campa, D

Published
2020

17. Polymorphic variants with non-coding RNA and risk of pancreatic ductal adenocarcinoma

Author

Gentiluomo, M., Corradi, C., Lu, Y., Giaccherini, M., Hegyi, P., Pezzilli, R., Tavano, F., Szentesi, A., Gajdan, L., Nentwich, M., Strobel, O., Gazouli, M., Cavestro, G., Darvasi, E., Arcidiacono, P., Landi, S., Luchini, C., Gioffreda, D., Kupcinsckas, J., Hackert, T., Neoptolemos, J., Morelli, L., Kreivenaite, E., Zuppardo, R., Carrara, S., Di Franco, G., Brenner, H., Hlavac, V., Sperti, C., Milanetto, A. C., Moz, S., Mohelnikova-Duchonova, B., Petrone, M., Lawlor, R., Vanella, G., Vashist, Y., Soucek, P., Vodicka, P., Cervena, K., Capurso, G., Malenka-Panas, E., Pasquali, C., Archibugi, L., Gheorghe, C., Andriulli, A., Ivanauskas, A., Theodoropoulos, G., Jamroziak, K., Izbicki, J., Testoni, S., Oliverius, M., Napoli, N., Canzian, F., and Campa, D.

Published
2020

18. Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma

Author

Obazee, O., Archibugi, L., Andriulli, A., Soucek, P., Malecka-Panas, E., Ivanauskas, A., Johnson, T., Gazouli, M., Pausch, T., Lawlor, R. T., Cavestro, G. M., Milanetto, A. C., Di Leo, M., Pasquali, C., Hegyi, P., Szentesi, A., Radu, C. E., Gheorghe, C., Theodoropoulos, G. E., Bergmann, F., Brenner, H., Vodickova, L., Katzke, V., Campa, D., Strobel, O., Kaiser, J., Pezzilli, R., Federici, F., Mohelnikova-Duchonova, B., Boggi, U., Lemstrova, R., Johansen, J. S., Bojesen, S. E., Chen, I., Jensen, B. V., Capurso, G., Pazienza, V., Dervenis, C., Sperti, C., Mambrini, A., Hackert, T., Kaaks, R., Basso, D., Talar-Wojnarowska, R., Maiello, E., Izbicki, J. R., Cuk, K., Saum, K. U., Cantore, M., Kupcinskas, J., Palmieri, O., Delle Fave, G., Landi, S., Salvia, R., Fogar, P., Vashist, Y. K., Scarpa, A., Vodicka, P., Tjaden, C., Iskierka-Jazdzewska, E., Canzian, F., Obazee, O., Archibugi, L., Andriulli, A., Soucek, P., Malecka-Panas, E., Ivanauskas, A., Johnson, T., Gazouli, M., Pausch, T., Lawlor, R. T., Cavestro, G. M., Milanetto, A. C., Di Leo, M., Pasquali, C., Hegyi, P., Szentesi, A., Radu, C. E., Gheorghe, C., Theodoropoulos, G. E., Bergmann, F., Brenner, H., Vodickova, L., Katzke, V., Campa, D., Strobel, O., Kaiser, J., Pezzilli, R., Federici, F., Mohelnikova-Duchonova, B., Boggi, U., Lemstrova, R., Johansen, J. S., Bojesen, S. E., Chen, I., Jensen, B. V., Capurso, G., Pazienza, V., Dervenis, C., Sperti, C., Mambrini, A., Hackert, T., Kaaks, R., Basso, D., Talar-Wojnarowska, R., Maiello, E., Izbicki, J. R., Cuk, K., Saum, K. U., Cantore, M., Kupcinskas, J., Palmieri, O., Delle Fave, G., Landi, S., Salvia, R., Fogar, P., Vashist, Y. K., Scarpa, A., Vodicka, P., Tjaden, C., Iskierka-Jazdzewska, E., and Canzian, F.

Subjects
Male, Cancer Research, pancreatic cancer, Genes, BRCA2, I157T, Polymorphism, Single Nucleotide, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Aged, BRCA2 Protein, K3326X, PANDoRA consortium, rs11571833, rs17879961, Oncology, Pancreatic cancer, Middle Aged, Pancreatic Neoplasms, Checkpoint Kinase 2, Case-Control Studies, Female, Carcinoma, Pancreatic Ductal
Abstract

Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. The effect of both mutations in important DNA repair genes on sporadic PDAC risk may shed light on the genetic architecture of this disease. Both mutations were genotyped in germline DNA from 2,935 sporadic PDAC cases and 5,626 control subjects within the PANcreatic Disease ReseArch (PANDoRA) consortium. Risk estimates were evaluated using multivariate unconditional logistic regression with adjustment for possible confounders such as sex, age and country of origin. Statistical analyses were two-sided with p values

Published
2018

19. A multifactorial score for pancreatic ductal adenocarcinoma risk prediction

Author

Gentiluomo, M., Galeotti, A. A., Rizzato, C., Obazee, O., Neoptolemos, J. P., Pasquali, C., Nentwick, M., Cavestro, G. M., Pezzilli, R., Greenhalf, W., Holleczek, B., Shroeder, C., Shottker, B., Ivanauskas, A., Ginocchi, L., Key, T. J., Hegyi, P., Archibugi, L., Darvasi, E., Basso, D., Sperti, C., Bijlisma, M. F., Palmieri, G., Hlavac, V., Talar-Wojnarowska, R., Mohelnikova – Duchonova, B., Hackert, T., Vahist, Y., Strouhal, O., van Laarhoven, C., Tavano, F., Lovecek, M., Dervenis, C., Izbeki, F., Padoan, A., Malencka-Panas, E., Maiello, E., Vanella, G., Capurso, G., Izbicki, J. R., Theodoropulos, G. E., Jamroziak, K., Katzke, V., Kaaks, R., Mambrini, A., Papanikolaou, I. S., Szentesi, A., Kupcinskas, J., Bursi, S., Costello, E., Boggi, U., Milanetto, A. C., Landi, S., Gazouli, M., Vodickova, L., Soucek, P., Gioffreda, D., Gemignani, F., Brenner, H., Strobel, O., Bukler, M. W., Vodicka, P., Paiella, S, Canzian, F., and Campa, D. :.

Published
2019

20. Genome-wide association study identifies an early onset pancreatic cancer risk locus

Author

Gentiluomo, M., Obazee, O., Ballerini, A., Vodickova, L., Hegyi, P., Soucek, P., Brenner, H., Milanetto, A. C., Landi, S., Gao, X., Bozzato, D., Capurso, G., Tavano, F., Vashist, Y., Hackert, T., Bambi, F., Bursi, S., Oliverius, M., Gioffreda, D., Schöttker, B., Ivanauskas, A., Mohelnikova-Duchonova, B., Darvasi, E., Pezzilli, R., Małecka-Panas, E., Strobel, O., Gazouli, M., Katzke, V., Szentesi, A., Cavestro, G. M., Farkas, G. Jr., Izbicki, J. R., Moz, S., Archibugi, L., Hlavac, V., Vincze, A., Talar-Wojnarowska, R., Borislav, R., Kupcinskas, J., Greenhalf, B., Dijk, F., Giese, N., Boggi, U., Andriulli, A., Busch, O. R., Vanella, G., Vodicka, P., Nentwich, M., Lawlor, R. T., Theodoropoulos, G. E., Jamroziak, K., Zuppardo, R. A., Moletta, L., Ginocchi, L., Kaaks, R., Neoptolemos, J. P., Lucchesi, M., Canzian, F., and Campa, D.

Published
2019

21. Bovine lactoferrin for Helicobacter pylori eradication: an open, randomized, multicentre study

Author

DI MARIO, F., ARAGONA, G., DAL BÓ, N., CAVALLARO, L., MARCON, V., OLIVIERI, P., BENEDETTI, E., ORZÈS, N., MARIN, R., TAFNER, G., CHILOVI, F., DE BASTIANI, R., FEDRIZZI, F., FRANCESCHI, M., SALVAT, M. H., MONICA, F., PIAZZI, L., VALIANTE, F., VECCHIATI, U., CAVESTRO, G. M., COMPARATO, G., IORI, V., MAINO, M., LEANDRO, G., PILOTTO, A., RUGGE, M., and FRANZÈ, A.

Published
2006

22. Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma

Author

Obazee, O, Archibugi, L, Andriulli, A, Soucek, P, Małecka-Panas, E, Ivanauskas, A, Johnson, T, Gazouli, M, Pausch, T, Lawlor, R T, Cavestro, G M, Milanetto, A C, Di Leo, M, Pasquali, C, Hegyi, P, Szentesi, A, Radu, C E, Gheorghe, C, Theodoropoulos, G E, Bergmann, F, Brenner, H, Vodickova, L, Katzke, V, Campa, D, Strobel, O, Kaiser, J, Pezzilli, R, Federici, F, Mohelnikova-Duchonova, B, Boggi, U, Lemstrova, R, Johansen, J S, Bojesen, S E, Chen, I, Jensen, B V, Capurso, G, Pazienza, V, Dervenis, C, Sperti, C, Mambrini, A, Hackert, T, Kaaks, R, Basso, D, Talar-Wojnarowska, R, Maiello, E, Izbicki, J R, Cuk, K, Saum, K U, Cantore, M, Kupcinskas, J, Palmieri, O, Delle Fave, G, Landi, S, Salvia, R, Fogar, P, Vashist, Y K, Scarpa, A, Vodicka, P, Tjaden, C, Iskierka-Jazdzewska, E, Canzian, F, Obazee, O, Archibugi, L, Andriulli, A, Soucek, P, Małecka-Panas, E, Ivanauskas, A, Johnson, T, Gazouli, M, Pausch, T, Lawlor, R T, Cavestro, G M, Milanetto, A C, Di Leo, M, Pasquali, C, Hegyi, P, Szentesi, A, Radu, C E, Gheorghe, C, Theodoropoulos, G E, Bergmann, F, Brenner, H, Vodickova, L, Katzke, V, Campa, D, Strobel, O, Kaiser, J, Pezzilli, R, Federici, F, Mohelnikova-Duchonova, B, Boggi, U, Lemstrova, R, Johansen, J S, Bojesen, S E, Chen, I, Jensen, B V, Capurso, G, Pazienza, V, Dervenis, C, Sperti, C, Mambrini, A, Hackert, T, Kaaks, R, Basso, D, Talar-Wojnarowska, R, Maiello, E, Izbicki, J R, Cuk, K, Saum, K U, Cantore, M, Kupcinskas, J, Palmieri, O, Delle Fave, G, Landi, S, Salvia, R, Fogar, P, Vashist, Y K, Scarpa, A, Vodicka, P, Tjaden, C, Iskierka-Jazdzewska, E, and Canzian, F

Abstract

Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. The effect of both mutations in important DNA repair genes on sporadic PDAC risk may shed light on the genetic architecture of this disease. Both mutations were genotyped in germline DNA from 2,935 sporadic PDAC cases and 5,626 control subjects within the PANcreatic Disease ReseArch (PANDoRA) consortium. Risk estimates were evaluated using multivariate unconditional logistic regression with adjustment for possible confounders such as sex, age and country of origin. Statistical analyses were two-sided with p values <0.05 considered significant. K3326X and I157T were associated with increased risk of developing sporadic PDAC (odds ratio (ORdom ) = 1.78, 95% confidence interval (CI) = 1.26-2.52, p = 1.19 × 10-3 and ORdom = 1.74, 95% CI = 1.15-2.63, p = 8.57 × 10-3 , respectively). Neither mutation was significantly associated with risk of developing early-onset PDAC. This retrospective study demonstrates novel risk estimates of K3326X and I157T in sporadic PDAC which suggest that upon validation and in combination with other established genetic and non-genetic risk factors, these mutations may be used to improve pancreatic cancer risk assessment in European populations. Identification of carriers of these risk alleles as high-risk groups may also facilitate screening or prevention strategies for such individuals, regardless of family history.

Published
2019

36. Genetic variability of the ABCC2 gene and overall survival in pancreatic cancer

Author

Gentiluomo, M., Galeotti, A., Pezzilli, R., Boggi, U., Capurso, G., Małecka-Panas, E., Kupcinskas, J., Büchler, M., Andriulli, A., Greenhalf, W., Neoptolemos, J. P., Mambrini, A., Scarpa, A., Soucek, P., Lovecek, M., Puchalt García, P., Obazee, O., Pasquali, C., Busch, O., Izbicki, J., Vashist, J. K., Cavestro, G. M., Hegyi, P., Canzian, F., and Campa, D

Published
2018

37. Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma

Author

Obazee, O., primary, Archibugi, L., additional, Andriulli, A., additional, Soucek, P., additional, Małecka-Panas, E., additional, Ivanauskas, A., additional, Johnson, T., additional, Gazouli, M., additional, Pausch, T., additional, Lawlor, R. T., additional, Cavestro, G. M., additional, Milanetto, A. C., additional, Di Leo, M., additional, Pasquali, C., additional, Hegyi, P., additional, Szentesi, A., additional, Radu, C. E., additional, Gheorghe, C., additional, Theodoropoulos, G. E., additional, Bergmann, F., additional, Brenner, H., additional, Vodickova, L., additional, Katzke, V., additional, Campa, D., additional, Strobel, O., additional, Kaiser, J., additional, Pezzilli, R., additional, Federici, F., additional, Mohelnikova-Duchonova, B., additional, Boggi, U., additional, Lemstrova, R., additional, Johansen, J. S., additional, Bojesen, S. E., additional, Chen, I., additional, Jensen, B. V., additional, Capurso, G., additional, Pazienza, V., additional, Dervenis, C., additional, Sperti, C., additional, Mambrini, A., additional, Hackert, T., additional, Kaaks, R., additional, Basso, D., additional, Talar-Wojnarowska, R., additional, Maiello, E., additional, Izbicki, J. R., additional, Cuk, K., additional, Saum, K. U., additional, Cantore, M., additional, Kupcinskas, J., additional, Palmieri, O., additional, Delle Fave, G., additional, Landi, S., additional, Salvia, R., additional, Fogar, P., additional, Vashist, Y. K., additional, Scarpa, A., additional, Vodicka, P., additional, Tjaden, C., additional, Iskierka-Jazdzewska, E., additional, and Canzian, F., additional

Published
2019
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38. Genetic variability of the ABCC2 gene and overall survival in pancreatic cancer

Author

Gentiluomo, M., Galeotti, A., Pezzilli, R., Boggi, U., Capurso, G., Małecka-panas, E., Kupcinskas, J., Büchler, M., Andriulli, A., Neoptolemos, J. P., Mambrini, A., Scarpa, A., Soucek, P., Lovecek, M., Puchalt García, P., Pasquali, C., Busch, O., Izbicki, J., Cavestro, G. M., Hegyi, P., Canzian, F., and Campa, D.

Published
2017

39. Novel pancreatic cancer susceptibility loci discovered through genome-wild association studies

Author

Canzian, F., Campa, D., Rizzato, C., Bijlsma, M. F., Brenner, H., Bueno de Mesquita, H. B., Capurso, G., Cavestro, G. M., Funel, N., Gazouli, M., Hackert, T., Key, T. J., Kupcinskas, J., Landi, S., Małecka Panas, E., Mambrini, A., Mohelnikova Duchonova, B., Neoptolemos, J. P., Pasquali, Claudio, Pezzilli, R., Scarpa, A., Strobel, O., Tavano, F., Vahist, Y. K., Vodicka, P., Stolzenberg Solomon, R., Wolpin, B., Klein, A., and Amundadottir, L. T.

Published
2015

41. Italian consensus guidelines for chronic pancreatitis

Author

Frulloni, L., Falconi, M., Gabbrielli, A., Gaia, E., Graziani, R., Pezzilli, R., Uomo, G., Andriulli, A., Balzano, G., Benini, L., Calculli, L., Campra, D., Capurso, G., Cavestro, G., De Angelis, C., Ghezzo, L., Manfredi, R., Malesci, A., Mariani, A., Mutignani, M., Ventrucci, M., Zamboni, G., Amodio, A., Vantini, I., Italian Association for the Study of the Pancreas, Bassi, C., Delle Fave, G., Capurso, I., Magarini, F., Albarello, L., Alfieri, S., Anti, M., Arcidiacono, P., Baiocchi, L., Berretti, D., Boraschi, P., Buscarini, E., Carroccio, A., Frulloni, L., Falconi, M., Gabbrielli, A., Gaia, E., Graziani, R., Pezzilli, R., Uomo, G., Andriulli, A., Balzano, G., Benini, L., Calculli, L., Campra, D., Capurso, G., Cavestro, G., De Angelis, C., Ghezzo, L., Manfredi, R., Malesci, A., Mariani, A., Mutignani, M., Ventrucci, M., Zamboni, G., Amodio, A., Vantini, I., Italian Association for the Study of the Pancreas, Bassi, C., Delle Fave, G., Capurso, I., Magarini, F., Albarello, L., Alfieri, S., Anti, M., Arcidiacono, P., Baiocchi, L., Berretti, D., Boraschi, P., Buscarini, E., and Carroccio, A.

Subjects
chronic pancreatitis, Settore MED/09 - Medicina Interna, Italian, consensus guideline, consensus guidelines
Published
2010

42. Genetics of chronic pancreatitis

Author

Cavestro, G. M., Comparato, G., Antonio Nouvenne, Sereni, G., Bertolini, S., Frulloni, L., Dalla Valle, R., Soliani, P., Zanelli, P. F., Sianesi, M., Franzè, A., Di Mario, F., Cavestro, GIULIA MARTINA, Comparato, G, Nouvenne, A, Sereni, G, Bertolini, S, Frulloni, L, Dalla Valle, R, Soliani, P, Zanelli, Pf, Sianesi, M, Franzè, A, and Di Mario, F.

Published
2005

43. Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population

Author

Neri, T, Cavestro, G, Seghini, P, Zanelli, P, Zanetti, A, Savi, M, Podda, M, Zuin, M, Colombo, M, Floreani, A, Rosina, F, Bianchi Porro, G, Strazzabosco, M, Okolicsanyi, L, Neri, TM, Cavestro, GM, Zanelli, PF, Okolicsanyi, L., STRAZZABOSCO, MARIO, Neri, T, Cavestro, G, Seghini, P, Zanelli, P, Zanetti, A, Savi, M, Podda, M, Zuin, M, Colombo, M, Floreani, A, Rosina, F, Bianchi Porro, G, Strazzabosco, M, Okolicsanyi, L, Neri, TM, Cavestro, GM, Zanelli, PF, Okolicsanyi, L., and STRAZZABOSCO, MARIO

Abstract

AIMS: In patients with with primary sclerosing cholangitis we investigated the major histocompatibility complex (MHC) genes and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. METHODS: In 64 PSC patients and 183 normal controls of the same population (Northern Italy), allelic polymorphisms at the DNA level were investigated in MHC region genes: HLA-DRB1, HLA-DQB1 and HLA-B, tumour necrosis factor A (TNFA), and in CFTR gene, with polymerase chain reaction-based methodologies. RESULTS: Frequencies of DRB1*01, DQA1*0101, DQB1*0102 (14 vs. 8%, p<0.05), DRB1*16, DQA1*0102, DQB1*0502 (8 vs. 3%, p<0.025) and DRB1*04, DQA1*03, DQB1*0301 (10 vs. 4%, p<0.005) haplotypes were more elevated in PSC patients. The frequency of patients positive for HLA DRB1*01, *1601 or *04 related haplotypes was significantly increased (32 vs. 14%, p<0.00025). DRB1*07, DQA1*0201, DQB1*02 haplotype frequency was significantly decreased (4 vs. 15%, p<0.001). After removing HLA-DRB1*01, *1601, *04 related haplotype sharing patients, HLA-DRB1*03, DQA1*0501, DQB1*02 haplotype frequency was significantly increased (32 vs. 14%, p<0.01). TNFA2 allele frequency was significantly increased in PSC patients (23 vs. 14%, p<0.025), as well as the TNFA2 homozygous genotype (9 vs. 0.5%, p=0.0013). No mutations were found on the CFTR gene and the allelic frequency of the 5T polymorphism in intron 8 was not increased. CONCLUSION: These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries.

Published
2003

44. P.29 USEFULNESS OF NON INVASIVE TEST (GASTROPANEL) FOR SCREENING OF ATROPHIC GASTRITIS IN PATIENTS WITH AUTOIMMUNE THYROID DISEASE

Author

Iori, A., primary, Minelli, R., additional, Talic, T., additional, Merli, R., additional, Caleffi, A., additional, Gatta, L., additional, Guida, L., additional, Curlo, M., additional, Morana, E., additional, Cavestro, G., additional, Rugge, M., additional, Scarpignato, C., additional, Lippi, G., additional, Franzè, A., additional, and Di Mario, F., additional

Published
2010
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49. Pathophysiology of the biliary epithelium

Author

Alvaro, D, Benedetti, A, Strazzabosco, M, Spirlì, C, Zsembery, A, Granato, A, Fabris, L, Cavestro, G, Iemmolo, R, Okolicsanyi, L, Crepaldi, G, STRAZZABOSCO, MARIO, Cavestro, GM, Iemmolo, RM, Crepaldi, G., Alvaro, D, Benedetti, A, Strazzabosco, M, Spirlì, C, Zsembery, A, Granato, A, Fabris, L, Cavestro, G, Iemmolo, R, Okolicsanyi, L, Crepaldi, G, STRAZZABOSCO, MARIO, Cavestro, GM, Iemmolo, RM, and Crepaldi, G.

Published
1997

50. Progressive familial intrahepatic cholestasis

Author

Cavestro, G. M., Luca Frulloni, Cerati, E., Ribeiro, L. A., Corrente, V., Sianesi, M., Franzé, A., Di Mario, F., Cavestro, GIULIA MARTINA, Frulloni, L., Cerati, E., Ribeiro, L. A., Corrente, V., Sianesi, M., Franze, A., and DI MARIO, F.

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