المؤلفون: Bernardo Bonanni, Chiara Catania, Fabio Conforti, Sara Pirola, T. De Pas, Laura Pala, Giuseppe Curigliano, Mariarosaria Calvello, Matteo Repetto

المصدر: European Journal of Cancer. 153:162-167

مصطلحات موضوعية: Adult, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, MLH1, DNA Mismatch Repair, Avelumab, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Medical history, Thymic carcinoma, business.industry, Microsatellite instability, Thymus Neoplasms, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, Axitinib, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Microsatellite Instability, DNA mismatch repair, Immunotherapy, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8adf46b09036dd3a2cf539af4b4519e
https://doi.org/10.1016/j.ejca.2021.05.029

المؤلفون: Donatella Milani, Angelo Selicorni, Vanna Pecile, Anna Cereda, Silvia Maitz, C. Faré, Pasqualina D'Ursi, A. Seresini, Laura Fontana, Monica Miozzo, Silvia Motta, Silvia Tabano, Mariarosaria Calvello, Maria Francesca Bedeschi, Silvia M. Sirchia, Faustina Lalatta, Alessandro Orro

المصدر: Epigenetics
Epigenetics 13 (2018): 897–909. doi:10.1080/15592294.2018.1514230
info:cnr-pdr/source/autori:Fontana, L.; Bedeschi, M. F.; Maitz, S.; Cereda, A.; Fare, C.; Motta, S.; Seresini, A.; D'Ursi, P.; Orro, A.; Pecile, V.; Calvello, M.; Selicorni, A.; Lalatta, F.; Milani, D.; Sirchia, S. M.; Miozzo, M.; Tabano, S./titolo:Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders/doi:10.1080%2F15592294.2018.1514230/rivista:Epigenetics/anno:2018/pagina_da:897/pagina_a:909/intervallo_pagine:897–909/volume:13

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Beckwith-Wiedemann Syndrome, Adolescent, epigenotype-phenotype correlations, Kruppel-Like Transcription Factors, Mutation, Missense, Locus (genetics), 030105 genetics & heredity, Gene mutation, Biology, Genomic Imprinting, Young Adult, 03 medical and health sciences, targeted next-generation sequencing, medicine, Humans, Epigenetics, Imprinting (psychology), Child, Molecular Biology, Adaptor Proteins, Signal Transducing, Genetics, Chromosomes, Human, Pair 15, Silver–Russell syndrome, Genetic disorder, multilocus imprinting disturbances, Infant, DNA Methylation, medicine.disease, Silver-Russell Syndrome, 030104 developmental biology, Differentially methylated regions, Child, Preschool, DNA methylation, Female, Apoptosis Regulatory Proteins, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d740a7db16922bcd8cb1215fdbb3900
https://doi.org/10.1080/15592294.2018.1514230

المؤلفون: Siranoush Manoukian, Serena Aneli, Paolo Peterlongo, Luca Livraghi, Paola Ogliara, Barbara Pasini, Giuseppe Matullo, Mariarosaria Calvello, Giovanni Birolo, Michela Franchi, Bernardo Bonanni, Alberto Zambelli, Sara Pizzamiglio, Federica Zanardi, Gisella Figlioli, Francesca Vignolo Lutati, Benedetta Beltrami, Monica Zuradelli, Giovanna De Vecchi, Paolo Radice, Sara Volorio, Arcangela De Nicolo, Carlo Tondini, Valeria Pensotti, Bernard Peissel, Davide Bondavalli, Irene Catucci, Paolo Verderio, Jacopo Azzollini

المصدر: Cancers, Vol 13, Iss 532, p 532 (2021)
Cancers
Volume 13
Issue 3

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Population, 030105 genetics & heredity, lcsh:RC254-282, 03 medical and health sciences, Breast cancer, Spectrum, medicine, education, skin and connective tissue diseases, education.field_of_study, Bergamo province, BRCA1, BRCA2, Italy, Pathogenic variants, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Northern italy, 030104 developmental biology, Geography, Oncology, Cohort, Disease risk, cardiovascular system, Genetic isolate, Demography

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d8a7bc5ef904782b08c51cabafa8ec
http://hdl.handle.net/2318/1795460

المؤلفون: Mariarosaria Calvello, Manuela Bottoni, Maria Sofia Fernandes, Gabriella Pravettoni, Cristina Trovato, Giulia Massari, Nicola Fusco, Francesca De Lorenzi, Giovanni Corso, Joao Sanches, Bernardo Bonanni, Raquel Seruca, Uberto Fumagalli Romario, Susana Seixas, Elena Guerini-Rocco, Carlo La Vecchia, Anna Rotili, Giacomo Montagna, Serena Petrocchi, Franco Roviello, Viviana Galimberti, Joana Figueiredo, Francesca Magnoni

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Cancers
Cancers, Vol 12, Iss 1598, p 1598 (2020)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Lobular Breast Carcinoma, Context (language use), Review, lcsh:RC254-282, Germline, CDH1, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, breast cancer, Internal medicine, medicine, Hereditary syndrome, Prophylactic surgery, Family history, Germline mutations, biology, business.industry, gastric cancer, Cancer, E-cadherin, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, hereditary syndrome, prophylactic surgery, 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein, germline mutations, business, Gastric cancer, CDH1 gene

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73e8b70a4fe7c9b423a8bd06c1fda4c7
http://europepmc.org/articles/PMC7352390

المؤلفون: Henriette Roed Nielsen, Judith Balmaña, Anne-Marie Gerdes, Ellen Honisch, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Douglas F. Easton, Linda Steele, Ava Kwong, Sung Won Kim, Bjarni A. Agnarsson, Piera Rizzolo, Angela R. Solano, Mads Thomassen, Johannes Lemke, Grazia Artioli, Heli Nevanlinna, Johanna I. Kiiski, Frans B. L. Hogervorst, Jong Won Lee, Diana Eccles, Mark H. Greene, Marc Tischkowitz, David E. Goldgar, Angela R. Bradbury, Javier Benitez, Marie Navratilova, Dominique Stoppa-Lyonnet, Arjen R. Mensenkamp, Alfons Meindl, Zisun Kim, Nadine Tung, Agnes Jager, Matthew L. Freedman, Ana Osorio, Norbert Arnold, Doris Steinemann, Inge Søkilde Pedersen, Patricia Llovet, Rob B. van der Luijt, Vivek L Patel, Munaza Ahmed, Lidia Moserle, Irene Konstantopoulou, Jackie Cook, Jacques Simard, Joan Brunet, Johanna Rantala, Kai-ren Ong, Carole Brewer, Joe Dennis, Sook-Yee Yoon, Hanne Meijers-Heijboer, Roberta Villa, Katie Snape, Louise Izatt, Ana Peixoto, Susan M. Domchek, Nina Ditsch, D. Gareth Evans, Tara M. Friebel, Sue K. Park, Katherine L. Nathanson, Lenka Foretova, Miguel Angel Pujana, Edith Olah, Hélène Schuster, Raymonda Varon-Mateeva, Silvia Tognazzo, Payal D. Shah, Oskar T. Johannsson, Hans Ehrencrona, Paul Gesta, Ian G. Campbell, Drakoulis Yannoukakos, Mirjam Larsen, Anthony V. D'Amico, Liene Nikitina-Zake, Davide Bondavalli, Valérie Bonadona, Paul A. James, Alan Donaldson, Antonis C. Antoniou, Bernd Auber, Andrew K. Godwin, Denise Molina Gomes, Jihyoun Lee, Laurence Faivre, Almuth Caliebe, Pilar Garre, Siddhartha Yadav, Julika Borde, Pedro Pérez-Segura, Birgitte Bertelsen, Paolo Peterlongo, Michael T. Parsons, John L. Hopper, Bruno Buecher, Goska Leslie, Shan Wang-Gohrke, Amanda B. Spurdle, T.M. Mooij, Juliane Ramser, kConFab Investigators, Lídia Feliubadaló, Susanne E. Boonen, Bernard Peissel, Anna von Wachenfeldt, Timothy R. Rebbeck, Christi J. van Asperen, Víctor Lorca, Estela Carrasco, Elisa Alducci, Ulrike Faust, Karin Kast, Gord Glendon, Saundra S. Buys, Fergus J. Couch, Mariarosaria Calvello, Istvan Bodrogi, Kathryn J. Ruddy, Philipp Wagner, Fabienne Lesueur, Evan L. Busch, Hebon Investigators, Laura Cortesi, Christian F. Singer, Ute Hamann, Giuseppe Damante, Stefania Tommasi, Esther M. John, Jacopo Azzollini, Cristina Zanzottera, Angelica M. Gutierrez-Barrera, Emmanuelle Mouret-Fourme, Claire Saule, Rosa B. Barkardottir, Kristin K. Zorn, Kerstin Rhiem, Uffe Birk Jensen, Mark Pomerantz, Yuan Chun Ding, Alison H. Trainer, Marco Montagna, Vijai Joseph, Domenico Palli, Kwang-Pil Ko, Angel M. Cronin, Susan L. Neuhausen, Dieter Niederacher, Laura Ottini, Angela Toss, Rita K. Schmutzler, Muriel Belotti, Jeffrey N. Weitzel, Caroline M. Seynaeve, Ileana Carnevali, Adalgeir Arason, Rosalind A. Eeles, Annie T W Chu, Florentia Fostira, Greet Wieme, Brita Arver, Charlotte Kvist Lautrup, Christoph Engel, Marion Gauthier-Villars, Daniel Barrowdale, Caroline Maria Rossing, Kenneth Offit, Kathleen Claes, Olufunmilayo I. Olopade, Penny Soucy, Alicia Barroso, Manuel R. Teixeira, Wendy K. Chung, Gero Kramer, Tsun Leung Chan, Agostina Stradella, Debra Frost, Noura Mebirouk, Liselotte P. van Hest, Esther Darder, Valentina Silvestri, Annabeth Høgh Petersen, Lesley McGuffog, Andrea Gehrig, Mary Porteous, Matti A. Rookus, Lizet E. van der Kolk, Siranoush Manoukian, Lone Sunde, Conxi Lázaro, Maria A. Caligo, Priyanka Sharma, Anne-Bine Skytte, Claus-Eric Ott, Christian Sutter, Paolo Radice, Veronica Medici, Georgia Chenevix-Trench, Vanesa García-Barberán, Kristiina Aittomäki, Amanda E. Toland, Anna Marie Mulligan, Véronique Mari, Bernd Dworniczak, Lynn Martin, Lara Della Puppa, Phuong L. Mai, George Fountzilas, Yen Y. Tan, Simona Agata, Torben A Kruse, Trinidad Caldés, Rosemarie Davidson, Daniel R. Barnes, Thomas Dyrso Jensen, Åke Borg, Mark E. Robson, Jennifer T. Loud, Vivian Y. Shin, Irene López-Perolio, Leigha Senter, Irene L. Andrulis, Rosa Scarpitta, Angela F. Brady, Annika Lindblom, Diana Torres, Lotte Nylandsted Krogh, Barbara Wappenschmidt, Muhammad Rashid, Jeroen Vierstraete, Mary B. Daly, Annelie Liljegren, Frederieke H. van der Baan, Eunyoung Kang, Alessandra Viel, Santiago Cabezas-Camarero, Eric Hahnen, Laura Matricardi, Marinus J. Blok, Edmond S. K. Ma, Maria Grazia Tibiletti, Catarina Santos, Julian Adlard, Soo Hwang Teo, Giuseppe Giannini, Jan Hauke, Peter J. Hulick, Miguel de la Hoya, Clare Miller, Bernardo Bonanni, Bent Ejlertsen, Lajos Géczi, Liliana Varesco, Orland Diez, N Herold, Christine Lasset, Adrià López-Fernández, Min Hyuk Lee

المساهمون: Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Clinicum, Department of Obstetrics and Gynecology, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Medical Oncology, Academic Medical Center, ARD - Amsterdam Reproduction and Development, Leslie, Goska [0000-0001-5756-6222], Adlard, Julian [0000-0002-1693-0435], Arnold, Norbert [0000-0003-4523-8808], Auber, Bernd [0000-0003-1880-291X], Azzollini, Jacopo [0000-0002-9364-9778], Barnes, Daniel R [0000-0002-3781-7570], Brunet, Joan [0000-0003-1945-3512], Caligo, Maria A [0000-0003-0589-1829], Campbell, Ian G [0000-0002-7773-4155], Claes, Kathleen BM [0000-0003-0841-7372], Darder, Esther [0000-0002-7764-1397], Dennis, Joe [0000-0003-4591-1214], Dworniczak, Bernd [0000-0003-4981-7903], Eeles, Rosalind A [0000-0002-3698-6241], Ehrencrona, Hans [0000-0002-5589-3622], Ejlertsen, Bent [0000-0001-8761-714X], Evans, D Gareth [0000-0002-8482-5784], Garre, Pilar [0000-0001-8285-4138], Greene, Mark H [0000-0003-1852-9239], Hulick, Peter J [0000-0001-8397-4078], Jager, Agnes [0000-0002-7713-1450], James, Paul [0000-0002-4361-4657], John, Esther M [0000-0003-3259-8003], Joseph, Vijai [0000-0002-7933-151X], Kim, Sung-Won [0000-0002-1413-2800], Kim, Zisun [0000-0002-1413-2800], Konstantopoulou, Irene [0000-0002-0470-0309], Lesueur, Fabienne [0000-0001-7404-4549], Matricardi, Laura [0000-0002-0241-1810], Gomes, Denise Molina [0000-0002-2836-9008], Nevanlinna, Heli [0000-0002-0916-2976], Olopade, Olufunmilayo I [0000-0002-9936-1599], Palli, Domenico [0000-0002-5558-2437], Park, Sue K [0000-0001-5002-9707], Parsons, Michael T [0000-0003-3242-8477], Peterlongo, Paolo [0000-0001-6951-6855], Petersen, Annabeth Høgh [0000-0002-4503-6942], Pujana, Miguel Angel [0000-0003-3222-4044], Ruddy, Kathryn J [0000-0001-6298-332X], Scarpitta, Rosa [0000-0001-7590-3827], Shah, Payal D [0000-0001-5874-3390], Silvestri, Valentina [0000-0003-0712-9379], Southey, Melissa C [0000-0002-6313-9005], Spurdle, Amanda B [0000-0003-1337-7897], Stoppa-Lyonnet, Dominique [0000-0002-5438-8309], Sunde, Lone [0000-0002-8479-165X], Teixeira, Manuel R [0000-0002-4896-5982], Teo, Soo Hwang [0000-0002-0444-590X], Tommasi, Stefania [0000-0002-2157-2978], Toss, Angela [0000-0002-1854-6701], van der Luijt, Rob B [0000-0002-0018-1089], Vierstraete, Jeroen [0000-0001-7909-6620], Wieme, Greet [0000-0003-2718-5300], Yadav, Siddhartha [0000-0003-4630-9903], Antoniou, Antonis C [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Human genetics, CCA - Cancer biology and immunology

المصدر: Cancer Research, 80(3), 624-638. American Association for Cancer Research Inc.
Cancer Research, 80, 3, pp. 624-638
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lázaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Molina Gomes, D, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Cilius Nielsen, F C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Høgh Petersen, A, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A-B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer Research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lázaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Molina Gomes, D, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Cilius Nielsen, F C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Høgh Petersen, A, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A-B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness ', Cancer Research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Evans, D G & et al. 2019, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer Research . https://doi.org/10.1158/0008-5472.CAN-19-1840
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lázaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Molina Gomes, D, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Cilius Nielsen, F C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Høgh Petersen, A, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A-B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Cancer Research, 80(3), 624-638. AMER ASSOC CANCER RESEARCH
Cancer Research, 80, 624-638
Cancer research, 80(3), 624-638. American Association for Cancer Research Inc.
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Puppa, L D, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Radice, P, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC F, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S W, Kim, Z, Ko, K P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lazaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Gomes, D M, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Nielsen, F C C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K R, Osorio, A, Ott, C E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Petersen, A H, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstrate, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer Research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Cancer Res
Cancer Research, 80(3), 624. American Association for Cancer Research Inc.

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, endocrine system diseases, PHENOTYPE, INCREASE, Prostate cancer, 0302 clinical medicine, Risk Factors, Young adult, skin and connective tissue diseases, Aged, 80 and over, Prostate cancer risk, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], MESSENGER-RNA DECAY, BRCA1 Protein, Genomics, GERMLINE MUTATIONS, Middle Aged, Prognosis, OVARIAN, CARRIERS, 3. Good health, 030220 oncology & carcinogenesis, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Tumor suppressor gene, Urology, Association (object-oriented programming), 3122 Cancers, MEDLINE, Article, Young Adult, 03 medical and health sciences, Breast cancer, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, BRCA1, BRCA2, Prostate Cancer, Pathogenic sequence variant location, Risk estimation, Journal Article, Genetic predisposition, medicine, Humans, BREAST-CANCER, Genetic Predisposition to Disease, Risk factor, Genetic Association Studies, Aged, BRCA2 Protein, IDENTIFICATION, business.industry, Prostatic Neoplasms, medicine.disease, GENE, Confidence interval, APC, 030104 developmental biology, Mutation, 3111 Biomedicine, business

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586e4ca6b50ef1e96acbb61e1a78bc0c
https://eprints.soton.ac.uk/438074/

المؤلفون: Giuseppe Viale, Mariarosaria Calvello, Loris Bernard, Nicoletta Colombo, Fedro A. Peccatori, Ilaria Betella, Bernardo Bonanni, Elena Guerini-Rocco, Massimo Barberis, Federica Tomao, Alessandra Rappa, Caterina Fumagalli

المساهمون: Fumagalli, C, Tomao, F, Betella, I, Rappa, A, Calvello, M, Bonanni, B, Bernard, L, Peccatori, F, Colombo, N, Viale, G, Barberis, M, Guerini-Rocco, E

المصدر: Cancers, Vol 11, Iss 11, p 1641 (2019)
Cancers
Volume 11
Issue 11

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, endocrine system diseases, Somatic cell, Concordance, medicine.disease_cause, lcsh:RC254-282, Article, Germline, Olaparib, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, BRCA1/2, Internal medicine, Medicine, skin and connective tissue diseases, Mutation, business.industry, Molecular pathology, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, female genital diseases and pregnancy complications, 030104 developmental biology, ovarian cancer, chemistry, next-generation sequencing, 030220 oncology & carcinogenesis, PARP inhibitor, brca1/2, business, Ovarian cancer

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8b61866f2788a3e10854afea811056
https://www.mdpi.com/2072-6694/11/11/1641

المؤلفون: Luigi Mori, Maria Christina Sini, Michela Biancolella, Florentia Fostira, Andreas Hadjisavvas, Susan M. Domchek, Conxi Lázaro, Gabriele Lorenzo Capone, T. L. Chris Chan, Jeffrey N. Weitzel, Mark E. Robson, Diana Eccles, Inge Søkilde Pedersen, Gianluca Tedaldi, Sarah M. Nielsen, Iris L. Romero, Arcangela De Nicolo, Orland Diez, Arjen R. Mensenkamp, Jana Soukupova, Pietro Cavalli, Ros Eeles, Ana Vega, Kathleen Claes, Maria A. Loizidou, David E. Goldgar, Olufunmilayo I. Olopade, Amanda E. Toland, Yvonne Wallis, Mads Thomassen, Setareh Moghadasi, Fergus J. Couch, Mariarosaria Calvello, Judith Balmaña, Encarna B. Gomez-Garcia, Maria Rossing, Claude Houdayer, Erica Vaccari, April Morrow, Thomas Hansen, Maria Grazia Tibiletti, Sophie Krieger, Liliana Varesco, Nadia Naldi, Therese Törngren, Rien Blok, Fahd Al-Mulla, Henriette Roed Nielsen, Angela R. Solano, Amanda B. Spurdle, Akira Hirasawa, Laura Cortesi, Siranoush Manoukian, Maria A. Caligo, Barbara Wappenschmidt, Manuel R. Teixeira, Marianna Puzzo, Miguel de la Hoya, Alvaro N.A. Monteiro, Petra Kleiblova, Anna Efremidis, Edenir Inêz Palmero, Simona De Toffol, Nicholas Pachter, Maria Piane

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), Klinische Genetica

المصدر: Nielsen, S M, Eccles, D M, Romero, I L, Al-Mulla, F, Balmaña, J, Biancolella, M, Blok, R, Caligo, M A, Calvello, M, Capone, G L, Cavalli, P, Chan, T L C, Claes, K B M, Cortesi, L, Couch, F J, de la Hoya, M, De Toffol, S, Diez, O, Domchek, S M, Eeles, R, Efremidis, A, Fostira, F, Goldgar, D, Hadjisavvas, A, Hansen, T V O, Hirasawa, A, Houdayer, C, Kleiblova, P, Krieger, S, Lázaro, C, Loizidou, M, Manoukian, S, Mensenkamp, A R, Moghadasi, S, Monteiro, A N, Mori, L, Morrow, A, Naldi, N, Nielsen, H R, Olopade, O I, Pachter, N S, Palmero, E I, Pedersen, I S, Piane, M, Puzzo, M, Robson, M, Rossing, M, Sini, M C, Solano, A & Thomassen, M 2018, ' Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes : An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group ', JCO Precision Oncology, vol. 2 . https://doi.org/10.1200/PO.18.00091
Nielsen, S M, Eccles, D M, Romero, I L, Al-Mulla, F, Balmaña, J, Biancolella, M, Blok, R, Caligo, M A, Calvello, M, Capone, G L, Cavalli, P, Chan, T L C, Claes, K B M, Cortesi, L, Couch, F J, de la Hoya, M, De Toffol, S, Diez, O, Domchek, S M, Eeles, R, Efremidis, A, Fostira, F, Goldgar, D, Hadjisavvas, A, Hansen, T V O, Hirasawa, A, Houdayer, C, Kleiblova, P, Krieger, S, Lázaro, C, Loizidou, M, Manoukian, S, Mensenkamp, A R, Moghadasi, S, Monteiro, A N, Mori, L, Morrow, A, Naldi, N, Nielsen, H R, Olopade, O I, Pachter, N S, Palmero, E I, Pedersen, I S, Piane, M, Puzzo, M, Robson, M, Rossing, M, Sini, M C, Solano, A, Soukupova, J, Tedaldi, G, Teixeira, M, Thomassen, M, Tibiletti, M G, Toland, A, Törngren, T, Vaccari, E, Varesco, L, Vega, A, Wallis, Y, Wappenschmidt, B, Weitzel, J, Spurdle, A B, De Nicolo, A & Gómez-García, E B 2018, ' Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes : An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group ', JCO Precision Oncology, vol. 2 . https://doi.org/10.1200/PO.18.00091
JCO Precision Oncology, 2, 1-43. American Society of Clinical Oncology
Journal of clinical oncology 2 (2018). doi:10.1200/PO.18.00091
info:cnr-pdr/source/autori:Nielsen, Sarah M.; Eccles, Diana M.; Romero, Iris L.; Al-Mulla, Fand; Balmana, Judith; Biancolella, Michela; Blok, Rien; Caligo, Maria Adelaide; Calvello, Mariarosaria; Capone, Gabriele Lorenzo; Cavalli, Pietro; Chan, T. L. Chris; Claes, Kathleen B. M.; Cortesi, Laura; Couch, Fergus J.; de la Hoya, Miguel; de Toffol, Simona; Diez, Orland; Domchek, Susan M.; Eeles, Ros; Efremidis, Anna; Fostira, Florentia; Goldgar, David; Hadjisavvas, Andreas; Hansen, Thomas v O.; Hirasawa, Akira; Houdayer, Claude; Kleiblova, Petra; Krieger, Sophie; Lazaro, Conxi; Loizidou, Maria; Manoukian, Siranoush; Mensenkamp, Arjen R.; Moghadasi, Setareh; Monteiro, Alvaro N.; Mori, Luigi; Morrow, April; Naldi, Nadia; Nielsen, Henriette R.; Olopade, Olufunmilayo, I; Pachter, Nicholas S.; Palrnero, Edenir, I; Pedersen, Inge S.; Piane, Maria; Puzzo, Marianna; Robson, Mark; Rossing, Maria; Sini, Maria Christina; Solano, Angela; Soukupova, Jana; Tedaldi, Gianluca; Teixeira, Manuel; Thomassen, Mads; Tibiletti, Maria Grazia; Toland, Amanda; Torngren, Therese; Vaccari, Erica; Varesco, Liliana; Vega, Ana; Wallis, Yvonne; Wappenschmidt, Barbara; Weitzel, Jeffrey; Spurdle, Amanda B.; De Nicolo, Arcangela; Gomez-Garcia, Encarna B./titolo:Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1%2F2 Breast (and Breast%2FOvarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group/doi:10.1200%2FPO.18.00091/rivista:Journal of clinical oncology/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:2
JCO Precision Oncology

مصطلحات موضوعية: 0301 basic medicine, HEREDITARY BREAST, Cancer Research, endocrine system, Evidence-based practice, PALB2, Biology, GUIDELINES, Germline, Article, CLASSIFICATION, FAMILIES, PANEL, GENOMIC CAPTURE, 03 medical and health sciences, 0302 clinical medicine, medicine, Allele, CHEK2, Gene, INHERITED MUTATIONS, Genetic testing, Genetics, RISK, medicine.diagnostic_test, BRIP1, ENIGMA, 16. Peace & justice, OVARIAN, PREDISPOSITION, 3. Good health, 030104 developmental biology, Settore MED/03 - Genetica Medica, Oncology, 030220 oncology & carcinogenesis, hereditary breast, inherited mutations, genomic capture, ovarian, panel, risk, predisposition, classification, guidelines, families

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e18cc8c44cbb31dff032d04c5f92d254
https://pubmed.ncbi.nlm.nih.gov/31517176

المؤلفون: Johanna I. Kiiski, Miguel Urioste, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Ana Vega, Irene Konstantopoulou, Ana Blanco, Jesús del Valle, Joan Brunet, Emma Tham, Daniele Calistri, Esther Darder, Taru A. Muranen, Maria Rossing, Åke Borg, Aleksander Myszka, Marketa Janatova, Drakoulis Yannoukakos, Laura Papi, Paolo Peterlongo, Bernardo Bonanni, Florentia Fostira, Catarina Santos, Séverine Eon-Marchais, Anders Kvist, Petra Kleiblova, Snezhana Smichkoska, Manuel R. Teixeira, Vilius Rudaitis, Dijana Plaseska-Karanfilska, Conxi Lázaro, Alicia Barroso, Ugnius Mickys, Mariarosaria Calvello, Edith Olah, Virginie Moncoutier, Zdenek Kleibl, Nadine Andrieu, Rimvydas Norvilas, Stepan Chvojka, Paolo Radice, Jana Soukupova, Birgitte Bertelsen, Siranoush Manoukian, Claude Houdayer, Marta Santamariña, Bernard Peissel, Zdenka Vlckova, Ana Osorio, Laura Cortesi, Jacopo Azzollini, Katerina Kubelka-Sabit, Fabienne Lesueur, Valentina Zampiga, Tu Nguyen-Dumont, Javier Benitez, Gisella Figlioli, Hans Ehrencrona, Orland Diez, Therese Törngren, Judith Balmaña, Francesca Gensini, Ruta Marcinkute, Timea Pocza, Angela Toss, Dominique Stoppa-Lyonnet, Ana Peixoto, Heli Nevanlinna

المساهمون: Institut Català de la Salut, [Figlioli G] Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan, Italy. [Kvist A] Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. [Tham E] Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. [Soukupova J] Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic. [Kleiblova P] Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. [Muranen TA] Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki, Finland. [Balmaña J] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Italian Association for Cancer Research, Fondazione Umberto Veronesi, Ministero della Salute (Italia), Region Stockholm (ALF), Ministry of Health (República Checa), Unión Europea. Comisión Europea, Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras), French National Institute of Cancer (INCa grant), National Health and Medical Research Council (Australia), Hungarian Research Grants, Lietuvos Mokslo Taryba (Lituania), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Associazione Italiana per la Ricerca sul Cancro (AIRC), Ministry of Health, Italy, Ministry of Health, Czech Republic, European Commission, Instituto de Salud Carlos III - ISCIII, Spanish Network on Rare Diseases (CIBERER), National Health and Medical Research Council of Australia, Research Council of Lithuania (LMTLT), European Regional Development Fund (ERDF/FEDER), HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Helsinki University Hospital Area, University of Helsinki, INDIVIDRUG - Individualized Drug Therapy, Clinicum

المصدر: Scientia
Cancers, Basel : MDPI AG, 2020, vol. 12, no. 2, art. no. 292, p. [1-14]
Dipòsit Digital de la UB
Universidad de Barcelona
Repisalud
Instituto de Salud Carlos III (ISCIII)
Cancers, Vol 12, Iss 2, p 292 (2020)
Cancers
Figlioli, G, Kvist, A, Tham, E, Soukupova, J, Kleiblova, P, Muranen, T A, Andrieu, N, Azzollini, J, Balmaña, J, Barroso, A, Benítez, J, Bertelsen, B, Blanco, A, Bonanni, B, Borg, Å, Brunet, J, Calistri, D, Calvello, M, Chvojka, S, Cortesi, L, Darder, E, Del Valle, J, Diez, O, Eon-Marchais, S, Fostira, F, Gensini, F, Houdayer, C, Janatova, M, Kiiski, J I, Konstantopoulou, I, Kubelka-Sabit, K, Lázaro, C, Lesueur, F, Manoukian, S, Marcinkute, R, Mickys, U, Moncoutier, V, Myszka, A, Nguyen-Dumont, T, Nielsen, F C, Norvilas, R, Olah, E, Osorio, A, Papi, L, Peissel, B, Peixoto, A, Plaseska-Karanfilska, D, Pócza, T, Rossing, M, Rudaitis, V & ENIGMA Consortium 2020, ' The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases ', Cancers, vol. 12, no. 2, 292 . https://doi.org/10.3390/cancers12020292
Volume 12
Issue 2

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, Breast cancer risk factors, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], ptvs, Càncer - Aspectes genètics, Basic medicine, Breast cancer, 0302 clinical medicine, Mama - Càncer, hemic and lymphatic diseases, FANCM, Breast cancer predisposition, FANCM truncating variants, Mutation spectrum, PTVs, RISK, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, Otros calificadores::Otros calificadores::/genética [Otros calificadores], FANCM GENE, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, 030220 oncology & carcinogenesis, Gene sequence, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Risk factors in diseases, 3122 Cancers, lcsh:RC254-282, fancm truncating variants, Càncer de mama, breast cancer predisposition, breast cancer risk factors, mutation spectrum, 03 medical and health sciences, Internal medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, ANEMIA, Allele frequency, Female breast cancer, MUTATIONS, business.industry, nutritional and metabolic diseases, BRCA1, medicine.disease, GENE, 030104 developmental biology, Clinical medicine, C.5791C-GREATER-THAN-T, FANCM Protein, business

وصف الملف: application/pdf; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50814983c51d7b6f93b23792330c61fa
https://doi.org/10.3390/cancers12020292

المؤلفون: Faustina Lalatta, Ernesto Leva, Lorena Canazza, Silvana Guerneri, Laura Fontana, Fabio Mosca, Lidia Pezzani, Marco Baccarin, Maria Francesca Bedeschi, Lorenzo Colombo, Silvia M. Sirchia, Leda Paganini, Monica Miozzo, Silvia Tabano, Mariarosaria Calvello

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Male, 0301 basic medicine, Beckwith-Wiedemann Syndrome, Genomic imprinting, DNA Mutational Analysis, Beckwith–Wiedemann syndrome, 030105 genetics & heredity, Consanguinity, Exon, Genetics (clinical), Sequence Deletion, Genetics, KCNQ1OT1, Omphalocele, Pedigree, Potassium Channels, Voltage-Gated, Child, Preschool, Female, Transcription Initiation Site, Hernia, Umbilical, Research Article, lcsh:Internal medicine, medicine.medical_specialty, lcsh:QH426-470, Locus (genetics), Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Sequence Homology, Nucleic Acid, medicine, Humans, Genetic Predisposition to Disease, Allele, lcsh:RC31-1245, Cyclin-Dependent Kinase Inhibitor p57, Base Sequence, Chromosomes, Human, Pair 11, Infant, Newborn, Cytogenetics, Genetic Variation, Infant, Abdominal wall defects, DNA Methylation, medicine.disease, lcsh:Genetics, CDKN1C, 030104 developmental biology, KCNQ1OT1:TSS-DMR, Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5df178b6bfb804ea7bc36b230b8f298f
https://doi.org/10.1186/s12881-017-0470-z

المؤلفون: Emanuele Giovanni Conte, Francesco Varone, Francesco Macagno, Luca Richeldi, Enrica Intini, Paolo Maria Leone, Giuliano Montemurro, Mariarosaria Calvello, Bruno Iovene, Pier-Valerio Mari

المصدر: Expert opinion on investigational drugs. 26(9)

مصطلحات موضوعية: 0301 basic medicine, Cell- and Tissue-Based Therapy, Context (language use), medicine.disease_cause, Bioinformatics, Models, Biological, Autoimmunity, Pathogenesis, 03 medical and health sciences, Therapeutic approach, Idiopathic pulmonary fibrosis, Immune system, Species Specificity, Medicine, Animals, Humans, Pharmacology (medical), Pharmacology, Wound Healing, business.industry, General Medicine, Drugs, Investigational, Precision medicine, medicine.disease, Idiopathic Pulmonary Fibrosis, Extracellular Matrix, Clinical trial, 030104 developmental biology, Drug Design, Immunology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a33c6e7225a0f964c3c59133e19f076
https://pubmed.ncbi.nlm.nih.gov/28777013