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1. Correction to: Comprehensive genomic profiling on metastatic Melanoma: results from a network screening from 7 Italian Cancer Centres

Author

Pallocca, Matteo, Molineris, Ivan, Berrino, Enrico, Marcozzi, Benedetta, Betti, Martina, Levati, Lauretta, D’Atri, Stefania, Menin, Chiara, Madonna, Gabriele, Ghiorzo, Paola, Bulgarelli, Jenny, Ferraresi, Virgina, Venesio, Tiziana, Rodolfo, Monica, Rivoltini, Licia, Lanfrancone, Luisa, Ascierto, Paolo Antonio, Mazzarella, Luca, Pelicci, Pier Giuseppe, De Maria, Ruggero, Ciliberto, Gennaro, Medico, Enzo, and Russo, Giandomenico

Published
2024
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2. Comprehensive genomic profiling on metastatic Melanoma: results from a network screening from 7 Italian Cancer Centres

Author

Pallocca, Matteo, Molineris, Ivan, Berrino, Enrico, Marcozzi, Benedetta, Betti, Martina, Levati, Lauretta, D’Atri, Stefania, Menin, Chiara, Madonna, Gabriele, Ghiorzo, Paola, Bulgarelli, Jenny, Ferraresi, Virgina, Venesio, Tiziana, Rodolfo, Monica, Rivoltini, Licia, Lanfrancone, Luisa, Ascierto, Paolo Antonio, Mazzarella, Luca, Pelicci, Pier Giuseppe, De Maria, Ruggero, Ciliberto, Gennaro, Medico, Enzo, and Russo, Giandomenico

Published
2024
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3. Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients.

Author

Orsi, Giulia, Carconi, Catia, Ghiorzo, Paola, Carrera, Paola, Pastorino, Lorenza, Presi, Silvia, Chiaravalli, Marta, Barbieri, Elena, Giordano, Guido, Sciallero, Stefania, Puccini, Alberto, Salvatore, Lisa, Cortesi, Laura, Macchini, Marina, Natalicchio, Maria Iole, Allavena, Eleonora, Pirrone, Chiara, Archibugi, Livia, Dalmasso, Bruna, Bruno, William, Tortora, Giampaolo, Landriscina, Matteo, Capurso, Gabriele, Cascinu, Stefano, Falconi, Massimo, and Reni, Michele

Published
2024
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4. Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

Author

Brown, Kevin M., Xu, Mai, Sargen, Michael, Jang, Hyunbum, Zhang, Mingzhen, Zhang, Tongwu, Zhu, Bin, Jones, Kristie, Kim, Jung, Mendoza, Laura, Hayward, Nicholas K., Tucker, Margaret A., Goldstein, Alisa M., Yang, Xiaohong Rose, Stewart, Douglas R., Hicks, Belynda, Consonni, Dario, Pesatori, Angela C., Fargnoli, Maria Concetta, Peris, Ketty, Stratigos, Alex, Menin, Chiara, Ghiorzo, Paola, Puig, Susana, Nagore, Eduardo, Andresson, Thorkell, Nussinov, Ruth, Calista, Donato, and Landi, Maria Teresa

Published
2022
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5. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

Author

Pellegrini, Cristina, Botta, Francesca, Massi, Daniela, Martorelli, Claudia, Facchetti, Fabio, Gandini, Sara, Maisonneuve, Patrick, Avril, Marie-Françoise, Demenais, Florence, Paillerets, Brigitte Bressac-de, Hoiom, Veronica, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Marrett, Loraine, Zanetti, Roberto, Dwyer, Terence, Thomas, Nancy E, Begg, Colin B, Berwick, Marianne, Puig, Susana, Potrony, Miriam, Nagore, Eduardo, Ghiorzo, Paola, Menin, Chiara, Manganoni, Ausilia Maria, Rodolfo, Monica, Brugnara, Sonia, Passoni, Emanuela, Sekulovic, Lidija Kandolf, Baldini, Federica, Guida, Gabriella, Stratigos, Alexandros, Ozdemir, Fezal, Ayala, Fabrizio, Fernandez-de-Misa, Ricardo, Quaglino, Pietro, Ribas, Gloria, Romanini, Antonella, Migliano, Emilia, Stanganelli, Ignazio, Kanetsky, Peter A, Pizzichetta, Maria Antonietta, García-Borrón, Jose Carlos, Nan, Hongmei, Landi, Maria Teresa, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Fargnoli, Maria Concetta, Raimondi, Sara, Group, IMI Study, Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Mazzoni, Laura, Group, GEM Study, Orlow, Irene, Mujumdar, Urvi, Hummer, Amanda, Busam, Klaus, Roy, Pampa, Canchola, Rebecca, Clas, Brian, Cotignola, Javiar, Monroe, Yvette, Armstrong, Bruce, Kricker, Anne, Litchfield, Melisa, Tucker, Paul, Stephens, Nicola, Switzer, Teresa, Theis, Beth, From, Lynn, Chowdhury, Noori, Vanasse, Louise, Purdue, Mark, Northrup, David, Rosso, Stefano, Sacerdote, Carlotta, Leighton, Nancy, Gildea, Maureen, Bonner, Joe, Jeter, Joanne, Klotz, Judith, Wilcox, Homer, Weiss, Helen, Millikan, Robert, Mattingly, Dianne, and Player, Jon

Subjects
Clinical Research, Pediatric, Genetics, Prevention, Cancer, Adolescent, Adult, Aged, Biomarkers, Tumor, Case-Control Studies, Child, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Logistic Models, Male, Melanoma, Middle Aged, Odds Ratio, Polymorphism, Genetic, Receptor, Melanocortin, Type 1, Retrospective Studies, Skin Neoplasms, IMI Study Group, GEM Study Group, M-SKIP Study Group
Abstract

BackgroundGermline variants in the melanocortin 1 receptor gene (MC1R) might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1R variants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1R variants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls.MethodsIn this retrospective pooled analysis, we used the M-SKIP Project, the Italian Melanoma Intergroup, and other European groups (with participants from Australia, Canada, France, Greece, Italy, the Netherlands, Serbia, Spain, Sweden, Turkey, and the USA) to assemble an international multicentre cohort. We gathered phenotypic and genetic data from children or adolescents diagnosed with sporadic single-primary cutaneous melanoma at age 20 years or younger, adult patients with sporadic single-primary cutaneous melanoma diagnosed at age 35 years or older, and healthy adult individuals as controls. We calculated odds ratios (ORs) for childhood and adolescent melanoma associated with MC1R variants by multivariable logistic regression. Subgroup analysis was done for children aged 18 or younger and 14 years or younger.FindingsWe analysed data from 233 young patients, 932 adult patients, and 932 healthy adult controls. Children and adolescents had higher odds of carrying MC1R r variants than did adult patients (OR 1·54, 95% CI 1·02-2·33), including when analysis was restricted to patients aged 18 years or younger (1·80, 1·06-3·07). All investigated variants, except Arg160Trp, tended, to varying degrees, to have higher frequencies in young patients than in adult patients, with significantly higher frequencies found for Val60Leu (OR 1·60, 95% CI 1·05-2·44; p=0·04) and Asp294His (2·15, 1·05-4·40; p=0·04). Compared with those of healthy controls, young patients with melanoma had significantly higher frequencies of any MC1R variants.InterpretationOur pooled analysis of MC1R genetic data of young patients with melanoma showed that MC1R r variants were more prevalent in childhood and adolescent melanoma than in adult melanoma, especially in patients aged 18 years or younger. Our findings support the role of MC1R in childhood and adolescent melanoma susceptibility, with a potential clinical relevance for developing early melanoma detection and preventive strategies.FundingSPD-Pilot/Project-Award-2015; AIRC-MFAG-11831.

Published
2019

6. Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies

Author

Beretta, Giordano, Bella, Maria Angela, Bracarda, Sergio, Colombo, Nicoletta, Conteduca, Vincenza, Del Mastro, Lucia, Galvano, Antonio, Gristina, Valerio, Guarneri, Valentina, La Verde, Nicla, Lorusso, Domenica, Marchetti, Paolo, Normanno, Nicola, Ottini, Laura, Pensabene, Matilde, Pignata, Sandro, Procopio, Giuseppe, Ricevuto, Enrico, Silvestris, Nicola, Tassone, Pierfrancesco, Tucci, Marcello, Donato, Vittorio, Carrara, Silvia, Paiella, Salvatore, Gentilini, Oreste, Gunelli, Roberta, Nicolis, Fabrizio, Buttitta, Fiamma, Colecchia, Maurizio, Fassan, Matteo, Malapelle, Umberto, Marchetti, Antonio, Marchiò, Caterina, Scarpa, Aldo, Truini, Mauro, Zamboni, Giuseppe, Gion, Massimo, Trevisiol, Chiara, Gronchi, Alessandro, Danesi, Romano, Di Marco, Vito, Carrera, Paola, Ghiorzo, Paola, Pasini, Barbara, Varesco, Liliana, Artibani, Walter, Ludovico, Giuseppe, Campanella, Ornella, Vatrano, Simona, Tagliafico, Enrico, Russo, A., Incorvaia, L., Capoluongo, E., Tagliaferri, P., Gori, S., Cortesi, L., Genuardi, M., Turchetti, D., De Giorgi, U., Di Maio, M., Barberis, M., Dessena, M., Del Re, M., Lapini, A., Luchini, C., Jereczek-Fossa, B.A., Sapino, A., and Cinieri, S.

Published
2022
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7. First international workshop of the ATM and cancer risk group (4-5 December 2019)

Author

Lesueur, Fabienne, Easton, Douglas F., Renault, Anne-Laure, Tavtigian, Sean V., Bernstein, Jonine L., Kote-Jarai, Zsofia, Eeles, Rosalind A., Plaseska-Karanfia, Dijana, Feliubadaló, Lidia, Arun, Banu, Herold, Natalie, Versmold, Beatrix, Schmutzler, Rita Katharina, Nguyen-Dumont, Tú, Southey, Melissa C., Dorling, Leila, Dunning, Alison M., Ghiorzo, Paola, Dalmasso, Bruna Samia, Cavaciuti, Eve, Le Gal, Dorothée, Roberts, Nicholas J., Dominguez-Valentin, Mev, Rookus, Matti, Taylor, Alexander M. R., Goldstein, Alisa M., Goldgar, David E., Stoppa-Lyonnet, Dominique, and Andrieu, Nadine

Published
2022
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9. The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies

Author

Russo, Antonio, Incorvaia, Lorena, Capoluongo, Ettore, Tagliaferri, Pierosandro, Galvano, Antonio, Del Re, Marzia, Malapelle, Umberto, Chiari, Rita, Conte, Pierfranco, Danesi, Romano, Fassan, Matteo, Ferrara, Roberto, Genuardi, Maurizio, Ghiorzo, Paola, Gori, Stefania, Guadagni, Fiorella, Marchetti, Antonio, Marchetti, Paolo, Midiri, Massimo, Normanno, Nicola, Passiglia, Francesco, Pinto, Carmine, Silvestris, Nicola, Tallini, Giovanni, Vatrano, Simona, Vincenzi, Bruno, Cinieri, Saverio, and Beretta, Giordano

Published
2022
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10. Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

Author

Adami, Francesca, Alducci, Elisa, Amadori, Lucia, Arcangeli, Valentina, Balestrino, Luisa, Bao, Quoc Riccardo, Barana, Daniela, Bertario, Lucio, Bonanni, Bernardo, Boni, Stefania, Bullian, Pierluigi, Carbonardi, Fiorella, Carnevali, Ileana, Castelli, Paola, Celotto, Francesco, Cini, Giulia, Crivellari, Gino, Libera, Duilio Della, Dell'elice, Anastasia, Digennaro, Maria, D'urso, Alessandra, Fabretto, Antonella, Fanale, Daniele, Feroce, Irene, Furlan, Daniela, Ghiorzo, Paola, Giacché, Mara, Gusella, Milena, Liserre, Barbara, Lucci Cordisco, Emanuela, Mammi, Isabella, Martayan, Aline, Massuras, Stefania, Mazzà, Daniela, Mollica, Eleonora, Morabito, Alberto, Nardo, Giorgia, Oliani, Cristina, Palermo, Flavia, Panizza, Elena, Patruno, Margherita, Pedroni, Monica, Pensotti, Valeria Grazia Maria, Piozzi, Guglielmo Niccolo, Ponz de Leon, Maurizio, Pozzi, Simonetta, Presi, Silvia, Pucciarelli, Salvatore, Puzzono, Marta, Ranzani, Guglielmina Nadia, Ravegnani, Mila, Remo, Andrea, Ricci, Maria Teresa, Roncucci, Luca, Rossi, Giovanni Battsita, Sala, Elena Maria, Mete, Lupe Sanchez, Sandonà, Daniele, Sciallero, Stefania, Serrano, Davide, Signoroni, Stefano, Spina, Francesca, Stigliano, Vittoria, Taborelli, Monica, Tedaldi, Gianluca, Tibiletti, Maria Grazia, Tognazzo, Silvia, Tolva, Gianluca, Trovato, Cristina Maria Concetta, Turchetti, Daniela, Urso, Emanuele Damiano Luca, Varvara, Dora, Viel, Alessandra, Vitellaro, Marco, Vivanet, Caterina, Zovato, Stefania, Zuppardo, Raffaella Alessia, and Piozzi, Guglielmo Niccolò

Published
2021
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11. Genetic telecounseling: evaluation of efficacy and outcomes through the Genetic Counseling Outcome Scale (GCOS) questionnaire in a cohort of patients with a suspected melanoma susceptibility syndrome

Author

Carugno, A, Passoni, G, Pogliaghi, E, Morgese, F, Maccaroni, E, Ghiorzo, P, Pastorino, L, Dalmasso, B, Bruno, W, Barile, M, Carugno, Andrea, Passoni Giovanna, Pogliaghi, Emanuela, Morgese, Francesca, Maccaroni, Elena, Ghiorzo, Paola, Pastorino, Lorenza, Dalmasso, Bruna, Bruno, William, Barile, Monica, Carugno, A, Passoni, G, Pogliaghi, E, Morgese, F, Maccaroni, E, Ghiorzo, P, Pastorino, L, Dalmasso, B, Bruno, W, Barile, M, Carugno, Andrea, Passoni Giovanna, Pogliaghi, Emanuela, Morgese, Francesca, Maccaroni, Elena, Ghiorzo, Paola, Pastorino, Lorenza, Dalmasso, Bruna, Bruno, William, and Barile, Monica

Published
2024

14. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Author

Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Del Regno, Laura, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M., Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Newton-Bishop, Julia A., Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., and Law, Matthew H.

Published
2020
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15. The 5′-untranslated region of p16 INK4 a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding

Author

Bisio, Alessandra, Latorre, Elisa, Andreotti, Virginia, Paillerets, Brigitte Bressac-de, Harland, Mark, Scarra, Giovanna Bianchi, Ghiorzo, Paola, Spitale, Robert C, Provenzani, Alessandro, and Inga, Alberto

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Cancer, 5' Untranslated Regions, Blotting, Western, Cell Hypoxia, Cell Line, Tumor, Cyclin-Dependent Kinase Inhibitor p16, Gene Expression Regulation, Neoplastic, HCT116 Cells, Humans, Internal Ribosome Entry Sites, MCF-7 Cells, Melanoma, Mutation, Naphthyridines, Protein Binding, Protein Biosynthesis, RNA Interference, RNA, Messenger, Sirolimus, TOR Serine-Threonine Kinases, Y-Box-Binding Protein 1, IRES, YBX1, hypoxia, melanoma, p16INK4a, Oncology and carcinogenesis
Abstract

CDKN2A/p16INK4a is an essential tumor suppressor gene that controls cell cycle progression and replicative senescence. It is also the main melanoma susceptibility gene. Here we report that p16INK4a 5'UTR mRNA acts as a cellular Internal Ribosome Entry Site (IRES). The potential for p16INK4a 5'UTR to drive cap-independent translation was evaluated by dual-luciferase assays using bicistronic and monocistronic vectors. Results of reporters' relative activities coupled to control analyses for actual bicistronic mRNA transcription, indicated that the wild type p16INK4a 5'UTR could stimulate cap-independent translation. Notably, hypoxic stress and the treatment with mTOR inhibitors enhanced the translation-stimulating property of p16INK4a 5'UTR. RNA immunoprecipitation performed in melanoma-derived SK-Mel-28 and in a patient-derived lymphoblastoid cell line indicated that YBX1 can bind the wild type p16INK4a mRNA increasing its translation efficiency, particularly during hypoxic stress. Modulation of YBX1 expression further supported its involvement in cap-independent translation of the wild type p16INK4a but not a c.-42T>A variant. RNA SHAPE assays revealed local flexibility changes for the c.-42T>A variant at the predicted YBX1 binding site region. Our results indicate that p16INK4a 5'UTR contains a cellular IRES that can enhance mRNA translation efficiency, in part through YBX1.

Published
2015

16. The 5'-untranslated region of p16INK4a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding.

Author

Bisio, Alessandra, Latorre, Elisa, Andreotti, Virginia, Bressac-de Paillerets, Brigitte, Harland, Mark, Scarra, Giovanna Bianchi, Ghiorzo, Paola, Spitale, Robert C, Provenzani, Alessandro, and Inga, Alberto

Subjects
Cell Line, Tumor, HCT116 Cells, Humans, Melanoma, Sirolimus, Naphthyridines, RNA, Messenger, 5' Untranslated Regions, Blotting, Western, Cell Hypoxia, Protein Biosynthesis, Gene Expression Regulation, Neoplastic, RNA Interference, Protein Binding, Mutation, Cyclin-Dependent Kinase Inhibitor p16, Y-Box-Binding Protein 1, TOR Serine-Threonine Kinases, MCF-7 Cells, Internal Ribosome Entry Sites, IRES, YBX1, hypoxia, melanoma, p16INK4a, Oncology and Carcinogenesis
Abstract

CDKN2A/p16INK4a is an essential tumor suppressor gene that controls cell cycle progression and replicative senescence. It is also the main melanoma susceptibility gene. Here we report that p16INK4a 5'UTR mRNA acts as a cellular Internal Ribosome Entry Site (IRES). The potential for p16INK4a 5'UTR to drive cap-independent translation was evaluated by dual-luciferase assays using bicistronic and monocistronic vectors. Results of reporters' relative activities coupled to control analyses for actual bicistronic mRNA transcription, indicated that the wild type p16INK4a 5'UTR could stimulate cap-independent translation. Notably, hypoxic stress and the treatment with mTOR inhibitors enhanced the translation-stimulating property of p16INK4a 5'UTR. RNA immunoprecipitation performed in melanoma-derived SK-Mel-28 and in a patient-derived lymphoblastoid cell line indicated that YBX1 can bind the wild type p16INK4a mRNA increasing its translation efficiency, particularly during hypoxic stress. Modulation of YBX1 expression further supported its involvement in cap-independent translation of the wild type p16INK4a but not a c.-42T>A variant. RNA SHAPE assays revealed local flexibility changes for the c.-42T>A variant at the predicted YBX1 binding site region. Our results indicate that p16INK4a 5'UTR contains a cellular IRES that can enhance mRNA translation efficiency, in part through YBX1.

Published
2015

17. Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer

Author

Astiazaran-Symonds, Esteban, Graham, Cole, Kim, Jung, Tucker, Margaret A., Ingvar, Christian, Helgadottir, Hildur, Pastorino, Lorenza, van Doorn, Remco, Sampson, Joshua N., Zhu, Bin, Bruno, William, Queirolo, Paola, Fornarini, Giuseppe, Sciallero, Stefania, Carter, Brian, Hicks, Belynda, Hutchinson, Amy, Jones, Kristine, Stewart, Douglas R., Chanock, Stephen J., Freedman, Neal D., Landi, Maria Teresa, Höiom, Veronica, Puig, Susana, Gruis, Nelleke, Yang, Xiaohong R., Ghiorzo, Paola, and Goldstein, Alisa M.

Published
2022
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19. Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

Author

Taylor, Nicholas J., Mitra, Nandita, Goldstein, Alisa M., Tucker, Margaret A., Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C., Hansson, Johan, Harland, Mark, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A.W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., and Kanetsky, Peter A.

Published
2017
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22. MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project

Author

Caini, Saverio, Gandini, Sara, Botta, Francesca, Tagliabue, Elena, Raimondi, Sara, Nagore, Eduardo, Zanna, Ines, Maisonneuve, Patrick, Newton-Bishop, Julia, Polsky, David, Lazovich, DeAnn, Kumar, Rajiv, Kanetsky, Peter A., Hoiom, Veronica, Ghiorzo, Paola, Landi, Maria Teresa, Ribas, Gloria, Menin, Chiara, Stratigos, Alexander J., Palmieri, Giuseppe, Guida, Gabriella, García-Borrón, Jose Carlos, Nan, Hongmei, Little, Julian, Sera, Francesco, Puig, Susana, and Fargnoli, Maria Concetta

Published
2020
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23. Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

Author

Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Ahmed, Munaza, Bajalica-Lagercrantz, Svetlana, Blatnik, Ana, Brunet, Joan, Cleaver, Ruth, Colas, Chrystelle, Dabir, Tabib, Evans, D. Gareth, Feshtali, Shirin, Ghiorzo, Paola, Graversen, Lise, Griewank, Klaus, Helgadottir, Hildur, Jewell, Rosalyn, Kohut, Kelly, Lorentzen, Henrik, Massi, Daniela, Missotten, Guy, Murray, Alex, Murray, Jennie, Nadal, Ernest, Ong, Kai Ren, Piulats, Josep M., Puig, Susana, Rajan, Neil, Ribero, Simone, Salle, Galateau, Teulé, Alexandre, Tham, Emma, van Paassen, Barbara, De Putter, Robin, Verdijk, Robert, Wagner, Anja, Woodward, Emma R., Hanson, Helen, Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Ahmed, Munaza, Bajalica-Lagercrantz, Svetlana, Blatnik, Ana, Brunet, Joan, Cleaver, Ruth, Colas, Chrystelle, Dabir, Tabib, Evans, D. Gareth, Feshtali, Shirin, Ghiorzo, Paola, Graversen, Lise, Griewank, Klaus, Helgadottir, Hildur, Jewell, Rosalyn, Kohut, Kelly, Lorentzen, Henrik, Massi, Daniela, Missotten, Guy, Murray, Alex, Murray, Jennie, Nadal, Ernest, Ong, Kai Ren, Piulats, Josep M., Puig, Susana, Rajan, Neil, Ribero, Simone, Salle, Galateau, Teulé, Alexandre, Tham, Emma, van Paassen, Barbara, De Putter, Robin, Verdijk, Robert, Wagner, Anja, Woodward, Emma R., and Hanson, Helen

Abstract

BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant pleural and peritoneal mesothelioma, renal cell carcinoma and specific non-malignant neoplasms of the skin, as part of the autosomal dominant BAP1-tumour predisposition syndrome. The overall lifetime risk for BAP1 carriers to develop at least one BAP1-associated tumour is up to 85%, although due to ascertainment bias, current estimates of risk are likely to be overestimated. As for many rare cancer predisposition syndromes, there is limited scientific evidence to support the utility of surveillance and, therefore, management recommendations for BAP1 carriers are based on expert opinion. To date, European recommendations for BAP1 carriers have not been published but are necessary due to the emerging phenotype of this recently described syndrome and increased identification of BAP1 carriers via large gene panels or tumour sequencing. To address this, the Clinical Guideline Working Group of the CanGene-CanVar project in the United Kingdom invited European collaborators to collaborate to develop guidelines to harmonize surveillance programmes within Europe. Recommendations with respect to BAP1 testing and surveillance were achieved following literature review and Delphi survey completed by a core group and an extended expert group of 34 European specialists including Geneticists, Ophthalmologists, Oncologists, Dermatologists and Pathologists. It is recognised that these largely evidence-based but pragmatic recommendations will evolve over time as further data from research collaborations informs the phenotypic spectrum and surveillance outcomes.

Published
2023

24. Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting

Author

Vanni, Irene, primary, Pastorino, Lorenza, additional, Tanda, Enrica Teresa, additional, Andreotti, Virginia, additional, Dalmasso, Bruna, additional, Solari, Nicola, additional, Mascherini, Matteo, additional, Cabiddu, Francesco, additional, Guadagno, Antonio, additional, Coco, Simona, additional, Allavena, Eleonora, additional, Bruno, William, additional, Pietra, Gabriella, additional, Croce, Michela, additional, Gangemi, Rosaria, additional, Piana, Michele, additional, Zoppoli, Gabriele, additional, Ferrando, Lorenzo, additional, Spagnolo, Francesco, additional, Queirolo, Paola, additional, and Ghiorzo, Paola, additional

Published
2023
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26. Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma

Author

Pastorino, Lorenza, primary, Dalmasso, Bruna, additional, Allavena, Eleonora, additional, Vanni, Irene, additional, Ugolini, Filippo, additional, Baroni, Gianna, additional, Croce, Michela, additional, Guadagno, Antonio, additional, Cabiddu, Francesco, additional, Andreotti, Virginia, additional, Bruno, William, additional, Zoppoli, Gabriele, additional, Ferrando, Lorenzo, additional, Tanda, Enrica Teresa, additional, Spagnolo, Francesco, additional, Menin, Chiara, additional, Gangemi, Rosaria, additional, Massi, Daniela, additional, and Ghiorzo, Paola, additional

Published
2022
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28. Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients

Author

Puccini, Alberto, primary, Ponzano, Marta, additional, Dalmasso, Bruna, additional, Vanni, Irene, additional, Gandini, Annalice, additional, Puglisi, Silvia, additional, Borea, Roberto, additional, Cremante, Malvina, additional, Bruno, William, additional, Andreotti, Virginia, additional, Allavena, Eleonora, additional, Martelli, Valentino, additional, Catalano, Fabio, additional, Grassi, Massimiliano, additional, Iaia, Maria Laura, additional, Pirrone, Chiara, additional, Pastorino, Alessandro, additional, Fornarini, Giuseppe, additional, Sciallero, Stefania, additional, Ghiorzo, Paola, additional, and Pastorino, Lorenza, additional

Published
2022
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29. Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

Author

Yang, Xiaohong R., Rotunno, Melissa, Xiao, Yanzi, Ingvar, Christian, Helgadottir, Hildur, Pastorino, Lorenza, van Doorn, Remco, Bennett, Hunter, Graham, Cole, Sampson, Joshua N., Malasky, Michael, Vogt, Aurelie, Zhu, Bin, Bianchi-Scarra, Giovanna, Bruno, William, Queirolo, Paola, Fornarini, Giuseppe, Hansson, Johan, Tuominen, Rainer, Burdett, Laurie, Hicks, Belynda, Hutchinson, Amy, Jones, Kristine, Yeager, Meredith, Chanock, Stephen J., Landi, Maria Teresa, Höiom, Veronica, Olsson, Håkan, Gruis, Nelleke, Ghiorzo, Paola, Tucker, Margaret A., and Goldstein, Alisa M.

Published
2016
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32. Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies

Author

Russo, A., primary, Incorvaia, L., additional, Capoluongo, E., additional, Tagliaferri, P., additional, Gori, S., additional, Cortesi, L., additional, Genuardi, M., additional, Turchetti, D., additional, De Giorgi, U., additional, Di Maio, M., additional, Barberis, M., additional, Dessena, M., additional, Del Re, M., additional, Lapini, A., additional, Luchini, C., additional, Jereczek-Fossa, B.A., additional, Sapino, A., additional, Cinieri, S., additional, Beretta, Giordano, additional, Bella, Maria Angela, additional, Bracarda, Sergio, additional, Colombo, Nicoletta, additional, Conteduca, Vincenza, additional, Del Mastro, Lucia, additional, Galvano, Antonio, additional, Gristina, Valerio, additional, Guarneri, Valentina, additional, La Verde, Nicla, additional, Lorusso, Domenica, additional, Marchetti, Paolo, additional, Normanno, Nicola, additional, Ottini, Laura, additional, Pensabene, Matilde, additional, Pignata, Sandro, additional, Procopio, Giuseppe, additional, Ricevuto, Enrico, additional, Silvestris, Nicola, additional, Tassone, Pierfrancesco, additional, Tucci, Marcello, additional, Donato, Vittorio, additional, Carrara, Silvia, additional, Paiella, Salvatore, additional, Gentilini, Oreste, additional, Gunelli, Roberta, additional, Nicolis, Fabrizio, additional, Buttitta, Fiamma, additional, Colecchia, Maurizio, additional, Fassan, Matteo, additional, Malapelle, Umberto, additional, Marchetti, Antonio, additional, Marchiò, Caterina, additional, Scarpa, Aldo, additional, Truini, Mauro, additional, Zamboni, Giuseppe, additional, Gion, Massimo, additional, Trevisiol, Chiara, additional, Gronchi, Alessandro, additional, Danesi, Romano, additional, Di Marco, Vito, additional, Carrera, Paola, additional, Ghiorzo, Paola, additional, Pasini, Barbara, additional, Varesco, Liliana, additional, Artibani, Walter, additional, Ludovico, Giuseppe, additional, Campanella, Ornella, additional, Vatrano, Simona, additional, and Tagliafico, Enrico, additional

Published
2022
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33. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Author

Law, Matthew H, Bishop, D Timothy, Lee, Jeffrey E, Brossard, Myriam, Martin, Nicholas G, Moses, Eric K, Song, Fengju, Barrett, Jennifer H, Kumar, Rajiv, Easton, Douglas F, Pharoah, Paul D P, Swerdlow, Anthony J, Kypreou, Katerina P, Taylor, John C, Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A, Andresen, Per A, Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M, Dȩbniak, Tadeusz, Duffy, David L, Elder, David E, Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M, Goldstein, Alisa M, Gruis, Nelleke A, Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A, Chen, Wei V, Landi, Maria Teresa, Lang, Julie, Lathrop, G Mark, Lubiński, Jan, Mackie, Rona M, Mann, Graham J, Molven, Anders, Montgomery, Grant W, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Qureshi, Abrar A, Radford-Smith, Graham L, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C, Craig, Jamie E, Schadendorf, Dirk, Simms, Lisa A, Burdon, Kathryn P, Nyholt, Dale R, Pooley, Karen A, Orr, Nick, Stratigos, Alexander J, Cust, Anne E, Ward, Sarah V, Hayward, Nicholas K, Han, Jiali, Schulze, Hans-Joachim, Dunning, Alison M, Bishop, Julia A Newton, Demenais, Florence, Amos, Christopher I, MacGregor, Stuart, and Iles, Mark M

Published
2015
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35. The CDKN2A/p16INK4a 5′UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

Author

Andreotti, Virginia, Bisio, Alessandra, Bressac-de Paillerets, Brigitte, Harland, Mark, Cabaret, Odile, Newton-Bishop, Julia, Pastorino, Lorenza, Bruno, William, Bertorelli, Roberto, De Sanctis, Veronica, Provenzani, Alessandro, Menin, Chiara, Fronza, Gilberto, Queirolo, Paola, Spitale, Robert C., Bianchi-Scarrà, Giovanna, Inga, Alberto, and Ghiorzo, Paola

Published
2016
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36. Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup

Author

Bruno, William, Pastorino, Lorenza, Ghiorzo, Paola, Andreotti, Virginia, Martinuzzi, Claudia, Menin, Chiara, Elefanti, Lisa, Stagni, Camilla, Vecchiato, Antonella, Rodolfo, Monica, Maurichi, Andrea, Manoukian, Siranoush, De Giorgi, Vincenzo, Savarese, Imma, Gensini, Francesca, Borgognoni, Lorenzo, Testori, Alessandro, Spadola, Giuseppe, Mandalà, Mario, Imberti, Gianlorenzo, Savoia, Paola, Astrua, Chiara, Ronco, Anna Maria, Farnetti, Alessandra, Tibiletti, Maria Grazia, Lombardo, Maurizio, Palmieri, Giuseppe, Ayala, Fabrizio, Ascierto, Paolo, Ghigliotti, Giovanni, Muggianu, Marisa, Spagnolo, Francesco, Picasso, Virginia, Tanda, Enrica Teresa, Queirolo, Paola, and Bianchi-Scarrà, Giovanna

Published
2016
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37. The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length

Author

Iles, Mark M., Bishop, D. Timothy, Taylor, John C., Hayward, Nicholas K., Brossard, Myriam, Cust, Anne E., Dunning, Alison M., Lee, Jeffrey E., Moses, Eric K., Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Friedman, Eitan, Ghiorzo, Paola, Gillanders, Elizabeth M., Goldstein, Alisa M., Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A., Landi, Maria Teresa, Lang, Julie, Lathrop, G. Mark, Lubiński, Jan, Mackie, Rona M., Martin, Nicholas G., Molven, Anders, Montgomery, Grant W., Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Radford-Smith, Graham L., Randerson-Moor, Juliette, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C., MacGregor, Stuart, Pooley, Karen A., Ward, Sarah V., Mann, Graham J., Amos, Christopher I., Pharoah, Paul D. P., Demenais, Florence, Law, Matthew H., Newton Bishop, Julia A., and Barrett, Jennifer H.

Published
2014
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38. Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation ofOBFC1

Author

Cardinale, Antonella, primary, Cantalupo, Sueva, additional, Lasorsa, Vito Alessandro, additional, Montella, Annalaura, additional, Cimmino, Flora, additional, Succoio, Mariangela, additional, Vermeulen, Michiel, additional, Baltissen, Marijke P, additional, Esposito, Matteo, additional, Avitabile, Marianna, additional, Formicola, Daniela, additional, Testori, Alessandro, additional, Bonfiglio, Ferdinando, additional, Ghiorzo, Paola, additional, Scalvenzi, Massimiliano, additional, Ayala, Fabrizio, additional, Zambrano, Nicola, additional, Iles, Mark M, additional, Xu, Mai, additional, Law, Matthew H, additional, Brown, Kevin M, additional, Iolascon, Achille, additional, and Capasso, Mario, additional

Published
2021
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40. Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

Author

Barrett, Jennifer H., Taylor, John C., Bright, Chloe, Harland, Mark, Dunning, Alison M., Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Bianchi Scarrà, Giovanna, Brossard, Myriam, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Friedman, Eitan, Ghiorzo, Paola, Gillanders, Elizabeth M., Gruis, Nelleke A., Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Lang, Julie, Lathrop, Mark G., Lubiński, Jan, Mackie, Rona M., Molven, Anders, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, van der Stoep, Nienke, van Doorn, Remco, van Workum, Wilbert, Goldstein, Alisa M., Kanetsky, Peter A., Pharoah, Paul D. P., Demenais, Florence, Hayward, Nicholas K., Newton Bishop, Julia A., Bishop, Timothy D., and Iles, Mark M.

Published
2015
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41. MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: A pooled-analysis from the M-SKIP project

Author

Pasquali, Elena, García-Borrón, José C., Fargnoli, Maria Concetta, Gandini, Sara, Maisonneuve, Patrick, Bagnardi, Vincenzo, Specchia, Claudia, Liu, Fan, Kayser, Manfred, Nijsten, Tamar, Nagore, Eduardo, Kumar, Rajiv, Hansson, Johan, Kanetsky, Peter A., Ghiorzo, Paola, Debniak, Tadeusz, Branicki, Wojciech, Gruis, Nelleke A., Han, Jiali, Dwyer, Terry, Blizzard, Leigh, Landi, Maria Teresa, Palmieri, Giuseppe, Ribas, Gloria, Stratigos, Alexander, Council, Laurin M., Autier, Philippe, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, and Raimondi, Sara

Published
2015
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42. Clinical genetic testing for familial melanoma in Italy: A cooperative study

Author

Bruno, William, Ghiorzo, Paola, Battistuzzi, Linda, Ascierto, Paolo A., Barile, Monica, Gargiulo, Sara, Gensini, Francesca, Gliori, Sara, Guida, Michele, Lombardo, Maurizio, Manoukian, Siranoush, Menin, Chiara, Nasti, Sabina, Origone, Paola, Pasini, Barbara, Pastorino, Lorenza, Peissel, Bernard, Pizzichetta, Maria Antonietta, Queirolo, Paola, Rodolfo, Monica, Romanini, Antonella, Scaini, Maria Chiara, Testori, Alessandro, Tibiletti, Maria Grazia, Turchetti, Daniela, Leachman, Sancy A., and Bianchi Scarrà, Giovanna

Published
2009
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43. First international workshop of the ATM and cancer risk group (4-5 December 2019)

Author

Lesueur, Fabienne, Easton, Douglas F, Renault, Anne-Laure, Tavtigian, Sean V, Bernstein, Jonine L, Kote-Jarai, Zsofia, Eeles, Rosalind A, Plaseska-Karanfia, Dijana, Feliubadaló, Lidia, Spanish ATM Working Group, Arun, Banu, Herold, Natalie, Versmold, Beatrix, Schmutzler, Rita Katharina, GC-HBOC, Nguyen-Dumont, Tú, Southey, Melissa C, Dorling, Leila, Dunning, Alison M, Ghiorzo, Paola, Dalmasso, Bruna Samia, Cavaciuti, Eve, Le Gal, Dorothée, Roberts, Nicholas J, Dominguez-Valentin, Mev, Rookus, Matti, Taylor, Alexander MR, Goldstein, Alisa M, Goldgar, David E, CARRIERS And Ambry Groups, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Andrieu, Nadine [0000-0001-8820-5550], and Apollo - University of Cambridge Repository

Subjects
Heterozygote, Variants classification, Tumor profiles, Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, Cancer spectrum, Cancer risk, Ataxia Telangiectasia, ATM, Neoplasms, Humans, Female, Genetic Predisposition to Disease, France
Abstract

The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was motivated by the fact that germline ATM pathogenic variants have been found to be associated with different cancer types. However, due to the lack of precise age-, sex-, and site-specific risk estimates, no consensus on management guidelines for variant carriers exists, and the clinical utility of ATM variant testing is uncertain. The meeting brought together epidemiologists, geneticists, biologists and clinicians to review current knowledge and on-going challenges related to ATM and cancer risk. This report summarizes the meeting sessions content that covered the latest results in family-based and population-based studies, the importance of accurate variant classification, the effect of radiation exposures for ATM variant carriers, and the characteristics of ATM-deficient tumors. The report concludes that ATM variant carriers outside of the context of Ataxia-Telangiectasia may benefit from effective cancer risk management and therapeutic strategies and that efforts to set up large-scale studies in the international framework to achieve this goal are necessary.

Published
2021
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44. Additional file 1 of Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Author

Lacson, John Charles A., Zamani, Shawn A., Froes, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Scarlet H. Doyle, Azizi, Esther, Balestrini, Claudia, D. Timothy Bishop, Bruno, William, Carlos-Ortega, Blanca, Cuellar, Francisco, Cust, Anne E., E., David, Gerdes, Anne-Marie, Ghiorzo, Paola, Thais C. Grazziotin, Gruis, Nelleke A., Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J., Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-Luiting, Jacoba J., Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-Alanis, Julio, Schmid, Helen, Wadt, Karin A. W., Newton-Bishop, Julia A., and Kanetsky, Peter A.

Subjects
neoplasms
Abstract

Additional file 1 : Module 1. Residency calendar, demographics, phenotype, and history of melanoma.

Published
2021
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45. Additional file 2 of Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Author

Lacson, John Charles A., Zamani, Shawn A., Froes, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Scarlet H. Doyle, Azizi, Esther, Balestrini, Claudia, D. Timothy Bishop, Bruno, William, Carlos-Ortega, Blanca, Cuellar, Francisco, Cust, Anne E., E., David, Gerdes, Anne-Marie, Ghiorzo, Paola, Thais C. Grazziotin, Gruis, Nelleke A., Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J., Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-Luiting, Jacoba J., Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-Alanis, Julio, Schmid, Helen, Wadt, Karin A. W., Newton-Bishop, Julia A., and Kanetsky, Peter A.

Abstract

Additional file 2 : Module 2. Personal sun exposure

Published
2021
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46. Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Author

Lacson, John Charles A., Zamani, Shawn A., Froes, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Doyle, Scarlet H., Azizi, Esther, Balestrini, Claudia, Bishop, D. Timothy, Bruno, William, Carlos-ortega, Blanca, Cuellar, Francisco, Cust, Anne E., Elder, David E., Gerdes, Anne-marie, Ghiorzo, Paola, Grazziotin, Thais C., Gruis, Nelleke A., Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landman, Gilles, Larre-borges, Alejandra, Mann, Graham J., Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-luiting, Jacoba J., Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-alanis, Julio, Schmid, Helen, Wadt, Karin A. W., Newton-bishop, Julia A., Kanetsky, Peter A., Lacson, John Charles A., Zamani, Shawn A., Froes, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Doyle, Scarlet H., Azizi, Esther, Balestrini, Claudia, Bishop, D. Timothy, Bruno, William, Carlos-ortega, Blanca, Cuellar, Francisco, Cust, Anne E., Elder, David E., Gerdes, Anne-marie, Ghiorzo, Paola, Grazziotin, Thais C., Gruis, Nelleke A., Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landman, Gilles, Larre-borges, Alejandra, Mann, Graham J., Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-luiting, Jacoba J., Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-alanis, Julio, Schmid, Helen, Wadt, Karin A. W., Newton-bishop, Julia A., and Kanetsky, Peter A.

Published
2021

47. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Author

Bertolotto, Corine, Lesueur, Fabienne, Giuliano, Sandy, Strub, Thomas, de Lichy, Mahaut, Bille, Karine, Dessen, Philippe, d’Hayer, Benoit, Mohamdi, Hamida, Remenieras, Audrey, Maubec, Eve, de la Fouchardière, Arnaud, Molinié, Vincent, Vabres, Pierre, Dalle, Stéphane, Poulalhon, Nicolas, Martin-Denavit, Tanguy, Thomas, Luc, Andry-Benzaquen, Pascale, Dupin, Nicolas, Boitier, Françoise, Rossi, Annick, Perrot, Jean-Luc, Labeille, Bruno, Robert, Caroline, Escudier, Bernard, Caron, Olivier, Brugières, Laurence, Saule, Simon, Gardie, Betty, Gad, Sophie, Richard, Stéphane, Couturier, Jérôme, Teh, Bin Tean, Ghiorzo, Paola, Pastorino, Lorenza, Puig, Susana, Badenas, Celia, Olsson, Hakan, Ingvar, Christian, Rouleau, Etienne, Lidereau, Rosette, Bahadoran, Philippe, Vielh, Philippe, Corda, Eve, Blanché, Hélène, Zelenika, Diana, Galan, Pilar, Chaudru, Valérie, Lenoir, Gilbert M., Lathrop, Mark, Davidson, Irwin, Avril, Marie-Françoise, Demenais, Florence, Ballotti, Robert, and Bressac-de Paillerets, Brigitte

Published
2011
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50. Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

Author

Urso, Emanuele Damiano Luca, primary, Ponz de Leon, Maurizio, additional, Vitellaro, Marco, additional, Piozzi, Guglielmo Niccolò, additional, Bao, Quoc Riccardo, additional, Martayan, Aline, additional, Remo, Andrea, additional, Stigliano, Vittoria, additional, Oliani, Cristina, additional, Lucci Cordisco, Emanuela, additional, Pucciarelli, Salvatore, additional, Ranzani, Guglielmina Nadia, additional, Viel, Alessandra, additional, Adami, Francesca, additional, Alducci, Elisa, additional, Amadori, Lucia, additional, Arcangeli, Valentina, additional, Balestrino, Luisa, additional, Barana, Daniela, additional, Bertario, Lucio, additional, Bonanni, Bernardo, additional, Boni, Stefania, additional, Bullian, Pierluigi, additional, Carbonardi, Fiorella, additional, Carnevali, Ileana, additional, Castelli, Paola, additional, Celotto, Francesco, additional, Cini, Giulia, additional, Crivellari, Gino, additional, Libera, Duilio Della, additional, Dell'elice, Anastasia, additional, Digennaro, Maria, additional, D'urso, Alessandra, additional, Fabretto, Antonella, additional, Fanale, Daniele, additional, Feroce, Irene, additional, Furlan, Daniela, additional, Ghiorzo, Paola, additional, Giacché, Mara, additional, Gusella, Milena, additional, Liserre, Barbara, additional, Mammi, Isabella, additional, Massuras, Stefania, additional, Mazzà, Daniela, additional, Mollica, Eleonora, additional, Morabito, Alberto, additional, Nardo, Giorgia, additional, Palermo, Flavia, additional, Panizza, Elena, additional, Patruno, Margherita, additional, Pedroni, Monica, additional, Pensotti, Valeria Grazia Maria, additional, Piozzi, Guglielmo Niccolo, additional, Pozzi, Simonetta, additional, Presi, Silvia, additional, Puzzono, Marta, additional, Ravegnani, Mila, additional, Ricci, Maria Teresa, additional, Roncucci, Luca, additional, Rossi, Giovanni Battsita, additional, Sala, Elena Maria, additional, Mete, Lupe Sanchez, additional, Sandonà, Daniele, additional, Sciallero, Stefania, additional, Serrano, Davide, additional, Signoroni, Stefano, additional, Spina, Francesca, additional, Taborelli, Monica, additional, Tedaldi, Gianluca, additional, Tibiletti, Maria Grazia, additional, Tognazzo, Silvia, additional, Tolva, Gianluca, additional, Trovato, Cristina Maria Concetta, additional, Turchetti, Daniela, additional, Urso, Emanuele Damiano Luca, additional, Varvara, Dora, additional, Vivanet, Caterina, additional, Zovato, Stefania, additional, and Zuppardo, Raffaella Alessia, additional

Published
2021
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