Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interactio... by Laura Caleca, Paolo Radice

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Central Serous Chorioretinopathy in a 14-year-old atopic boy: a case report by Stefano Ranno, Liviana Fontanel, Edoardo Ruggiero, Paolo Nucci, Paolo Radice, Simone Donati

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Recovery of bacillary layer detachment associated with macula-off rhegmatogenous retinal detachment: Evidence of foveation mechanisms? by Andrea Govetto, Paolo Radice, Sara Lucchini, Daniela Bacherini, Stanislao Rizzo, Alfonso Savastano

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Preliminary characterization of biomolecular processes related to plasticity in Acyrthosiphon pisum by Vincenzo De Fabrizio, Vincenzo Trotta, Luigi Pariti, Rosa Paolo Radice, Giuseppe Martelli

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COVID-19 pandemic and ophthalmological emergencies: a case-control analysis of the impact of lockdowns in a University Hospital in Lombardy region, Italy by Simone Donati, Edoardo Appolloni, Sebastiano Ceriani, Elias Premi, Laura Premoli, Cristian Metrangolo, Arianna Ravasio, Claudio Azzolini, Paolo Radice

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A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report by Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

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Corrigendum: A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report by Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

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GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the <i>BRCA1</i> and <i>BRCA2</i> Genes by Laura Caleca, Mara Colombo, Thomas van Overeem Hansen, Conxi Lázaro, Siranoush Manoukian, Michael T. Parsons, Amanda B. Spurdle, Paolo Radice

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Role of Vitrectomy in Nontractional Refractory Diabetic Macular Edema by Stefano Ranno, Stela Vujosevic, Manuela Mambretti, Cristian Metrangolo, Micol Alkabes, Giovanni Rabbiolo, Andrea Govetto, Elisa Carini, Paolo Nucci, Paolo Radice

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Misbehaviour of XIST RNA in breast cancer cells. by Silvia M Sirchia, Silvia Tabano, Laura Monti, Maria P Recalcati, Manuela Gariboldi, Francesca R Grati, Giovanni Porta, Palma Finelli, Paolo Radice, Monica Miozzo

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BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers by Andreina Oliverio, Eleonora Bruno, Mara Colombo, Angelo Paradiso, Stefania Tommasi, Antonella Daniele, Daniela Andreina Terribile, Stefano Magno, Donatella Guarino, Siranoush Manoukian, Bernard Peissel, Paolo Radice, Patrizia Pasanisi

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Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance by Elisa Gelli, Mara Colombo, Anna Maria Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni, Valentina Imperatore, Siranoush Manoukian, Margherita Baldassarri, Caterina Lo Rizzo, Lorenza Catania, Elisa Frullanti, Enrico Tagliafico, Laura Cortesi, Federica Spaggiari, Maria Antonietta Mencarelli, Eva Trevisson, Paolo Radice, Alessandra Renieri, Francesca Ariani

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<i>BRCA1/2</i> Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories by Ettore Capoluongo, Nicla La Verde, Massimo Barberis, Maria Angela Bella, Fiamma Buttitta, Paola Carrera, Nicoletta Colombo, Laura Cortesi, Maurizio Genuardi, Massimo Gion, Valentina Guarneri, Domenica Lorusso, Antonio Marchetti, Paolo Marchetti, Nicola Normanno, Barbara Pasini, Matilde Pensabene, Sandro Pignata, Paolo Radice, Enrico Ricevuto, Anna Sapino, Pierosandro Tagliaferri, Pierfrancesco Tassone, Chiara Trevisiol, Mauro Truini, Liliana Varesco, Antonio Russo, Stefania Gori

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Analysis of Italian <i>BRCA1/2</i> Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy by Gisella Figlioli, Arcangela De Nicolo, Irene Catucci, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Benedetta Beltrami, Bernardo Bonanni, Mariarosaria Calvello, Davide Bondavalli, Barbara Pasini, Francesca Vignolo Lutati, Paola Ogliara, Monica Zuradelli, Valeria Pensotti, Giovanna De Vecchi, Sara Volorio, Paolo Verderio, Sara Pizzamiglio, Giuseppe Matullo, Serena Aneli, Giovanni Birolo, Federica Zanardi, Carlo Tondini, Alberto Zambelli, Luca Livraghi, Michela Franchi, Paolo Radice, Paolo Peterlongo

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P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2* by Michael Parsons, Michael Anderson, Windy Berkofsky-Fessler, Sandrine Caputo, Raymond Chan, Melissa Cline, Fergus Couch, Miguel de la Hoya, Bing-Jian Feng, David Goldgar, Encarna Gomez-Garcia, Susan Hiraki, Megan Holdren, Claude Houdayer, Paul James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen Mensenkamp, Alvaro Monteiro, Vaishnavi Nathan, Robert O'Connor, Tina Pesaran, Paolo Radice, Marcy Richardson, Gunnar Schmidt, Inge Sokilde Pedersen, Melissa Southey, Sean Tavtigian, Bryony Thompson, Amanda Toland, Emma Tudini, Clare Turnbull, Maaike Vreeswijk, Logan Walker, Lauren Zec, Amanda Spurdle

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

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Spectrum and Frequency of Germline <i>FANCM</i> Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases by Gisella Figlioli, Amandine Billaud, Qin Wang, Manjeet K. Bolla, Joe Dennis, Michael Lush, Anders Kvist, Muriel A. Adank, Thomas U. Ahearn, Natalia N. Antonenkova, Päivi Auvinen, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Thomas Brüning, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, NBCS Collaborators, Kamila Czene, Peter Devilee, Thilo Dörk, Mikael Eriksson, Peter A. Fasching, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Gord Glendon, Encarna B. Gómez Garcia, Anna González-Neira, Felix Grassmann, Pascal Guénel, Eric Hahnen, Ute Hamann, Peter Hillemanns, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, kConFab Investigators, Anna Jakubowska, Elza K. Khusnutdinova, Vessela N. Kristensen, Annika Lindblom, Maria A. Loizidou, Jan Lubiński, Arto Mannermaa, Tabea Maurer, Dimitrios Mavroudis, William G. Newman, Nadia Obi, Mihalis I. Panayiotidis, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Matthias Ruebner, Emmanouil Saloustros, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Mitul Shah, Melissa C. Southey, Ian Tomlinson, Thérèse Truong, Elke M. van Veen, Camilla Wendt, Xiaohong R. Yang, Kyriaki Michailidou, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Irene L. Andrulis, D. Gareth Evans, Antoinette Hollestelle, Jenny Chang-Claude, Roger L. Milne, Paolo Peterlongo

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Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association S... by JooYong Park, Ji-Yeob Choi, Jaesung Choi, Seokang Chung, Nan Song, Sue K. Park, Wonshik Han, Dong-Young Noh, Sei-Hyun Ahn, Jong Won Lee, Mi Kyung Kim, Sun Ha Jee, Wanqing Wen, Manjeet K. Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Mitul Shah, Don M. Conroy, Patricia A. Harrington, Rebecca Mayes, Kamila Czene, Per Hall, Lauren R. Teras, Alpa V. Patel, Fergus J. Couch, Janet E. Olson, Elinor J. Sawyer, Rebecca Roylance, Stig E. Bojesen, Henrik Flyger, Diether Lambrechts, Adinda Baten, Keitaro Matsuo, Hidemi Ito, Pascal Guénel, Thérèse Truong, Renske Keeman, Marjanka K. Schmidt, Anna H. Wu, Chiu-Chen Tseng, Angela Cox, Simon S. Cross, kConFab Investigators, Irene L. Andrulis, John L. Hopper, Melissa C. Southey, Pei-Ei Wu, Chen-Yang Shen, Peter A. Fasching, Arif B. Ekici, Kenneth Muir, Artitaya Lophatananon, Hermann Brenner, Volker Arndt, Michael E. Jones, Anthony J. Swerdlow, Reiner Hoppe, Yon-Dschun Ko, Mikael Hartman, Jingmei Li, Arto Mannermaa, Jaana M. Hartikainen, Javier Benitez, Anna González-Neira, Christopher A. Haiman, Thilo Dörk, Natalia V. Bogdanova, Soo Hwang Teo, Nur Aishah Mohd Taib, Olivia Fletcher, Nichola Johnson, Mervi Grip, Robert Winqvist, Carl Blomqvist, Heli Nevanlinna, Annika Lindblom, Camilla Wendt, Vessela N. Kristensen, NBCS Collaborators, Rob A. E. M. Tollenaar, Bernadette A. M. Heemskerk-Gerritsen, Paolo Radice, Bernardo Bonanni, Ute Hamann, Mehdi Manoochehri, James V. Lacey, Maria Elena Martinez, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Keun-Young Yoo, Daehee Kang

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Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival by Anna Morra, Maartje A. C. Schreurs, Irene L. Andrulis, Hoda Anton‐Culver, Annelie Augustinsson, Matthias W. Beckmann, Sabine Behrens, Stig E. Bojesen, Manjeet K. Bolla, Hiltrud Brauch, Annegien Broeks, Saundra S. Buys, Nicola J. Camp, Jose E. Castelao, Melissa H. Cessna, Jenny Chang‐Claude, Wendy K. Chung, NBCS Collaborators, Sarah V. Colonna, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Joe Dennis, Peter Devilee, Thilo Dörk, Alison M. Dunning, Miriam Dwek, Douglas F. Easton, Diana M. Eccles, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Tanja N. Fehm, Jonine D. Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago‐Dominguez, Montserrat García‐Closas, José A. García‐Sáenz, Jeanine Genkinger, Felix Grassmann, Melanie Gündert, Eric Hahnen, Christopher A. Haiman, Ute Hamann, Patricia A. Harrington, Jaana M. Hartikainen, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, ABCTB Investigators, kConFab Investigators, Anna Jakubowska, Wolfgang Janni, Helena Jernström, Esther M. John, Nichola Johnson, Michael E. Jones, Vessela N. Kristensen, Allison W. Kurian, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubiński, Michael P. Lux, Arto Mannermaa, Dimitrios Mavroudis, Anna Marie Mulligan, Taru A. Muranen, Heli Nevanlinna, Ines Nevelsteen, Patrick Neven, William G. Newman, Nadia Obi, Kenneth Offit, Andrew F. Olshan, Tjoung‐Won Park‐Simon, Alpa V. Patel, Paolo Peterlongo, Kelly‐Anne Phillips, Dijana Plaseska‐Karanfilska, Eric C. Polley, Nadege Presneau, Katri Pylkäs, Brigitte Rack, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Mark Robson, Atocha Romero, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Sabine Schuetze, Christopher Scott, Mitul Shah, Snezhana Smichkoska, Melissa C. Southey, William J. Tapper, Lauren R. Teras, Rob A. E. M. Tollenaar, Katarzyna Tomczyk, Ian Tomlinson, Melissa A. Troester, Celine M. Vachon, Elke M. vanVeen, Qin Wang, Camilla Wendt, Hans Wildiers, Robert Winqvist, Argyrios Ziogas, Per Hall, Paul D. P. Pharoah, Muriel A. Adank, Antoinette Hollestelle, Marjanka K. Schmidt, Maartje J. Hooning

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Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. by Elena Vigorito, Karoline B Kuchenbaecker, Jonathan Beesley, Julian Adlard, Bjarni A Agnarsson, Irene L Andrulis, Banu K Arun, Laure Barjhoux, Muriel Belotti, Javier Benitez, Andreas Berger, Anders Bojesen, Bernardo Bonanni, Carole Brewer, Trinidad Caldes, Maria A Caligo, Ian Campbell, Salina B Chan, Kathleen B M Claes, David E Cohn, Jackie Cook, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Antoine de Pauw, Capucine Delnatte, Orland Diez, Susan M Domchek, Martine Dumont, Katarzyna Durda, Bernd Dworniczak, Douglas F Easton, Diana Eccles, Christina Edwinsdotter Ardnor, Ros Eeles, Bent Ejlertsen, Steve Ellis, D Gareth Evans, Lidia Feliubadalo, Florentia Fostira, William D Foulkes, Eitan Friedman, Debra Frost, Pragna Gaddam, Patricia A Ganz, Judy Garber, Vanesa Garcia-Barberan, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Sophie Giraud, Andrew K Godwin, David E Goldgar, Christopher R Hake, Thomas V O Hansen, Sue Healey, Shirley Hodgson, Frans B L Hogervorst, Claude Houdayer, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Lauren Jacobs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Uffe Birk Jensen, Esther M John, Joseph Vijai, Beth Y Karlan, Karin Kast, KConFab Investigators, Sofia Khan, Ava Kwong, Yael Laitman, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jan Lubinski, Phuong L Mai, Siranoush Manoukian, Sylvie Mazoyer, Alfons Meindl, Arjen R Mensenkamp, Marco Montagna, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Ana Osorio, Sue Kyung Park, Ylva Paulsson-Karlsson, Inge Sokilde Pedersen, Bernard Peissel, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Marion Piedmonte, Bruce Poppe, Miquel Angel Pujana, Paolo Radice, Gad Rennert, Gustavo C Rodriguez, Matti A Rookus, Eric A Ross, Rita Katharina Schmutzler, Jacques Simard, Christian F Singer, Thomas P Slavin, Penny Soucy, Melissa Southey, Doris Steinemann, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Muy-Kheng Tea, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Athanassios Vratimos, Jeffrey N Weitzel, Lesley McGuffog, Judy Kirk, Amanda Ewart Toland, Ute Hamann, Noralane Lindor, Susan J Ramus, Mark H Greene, Fergus J Couch, Kenneth Offit, Paul D P Pharoah, Georgia Chenevix-Trench, Antonis C Antoniou

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