286 results on '"Pastorino, Lorenza"'
Search Results
2. Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
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Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian, Alhopuro, Pia, Benusiglio, Patrick, Bourdeaut, Franck, Brecht, Ines, Del Baldo, Giada, Dhanda, Sandeep, Garrè, Maria, Gidding, Corrie, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan, Schroeder, Christopher, Smith, Miriam, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid, Evans, D, and Brugieres, Laurence
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central nervous system diseases ,congenital ,hereditary ,and neonatal diseases and abnormalities ,genetic counseling ,genetic predisposition to disease ,germ-line mutation - Abstract
BACKGROUND: Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome. METHODS: To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFU PV (89 patients) using the Nelson-Aalen estimator. RESULTS: Overall, 117/172 (68%) SUFU PV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFU gene and inherited in 73% of cases in which inheritance could be evaluated. CONCLUSION: Germline SUFU PV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.
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- 2022
3. Molecular Assessment in Patients with Melanoma: When and Why?
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Dalmasso, Bruna, Vanni, Irene, Bruno, William, Andreotti, Virginia, Pastorino, Lorenza, Spagnolo, Francesco, Ghiorzo, Paola, Cafiero, Ferdinando, editor, and De Cian, Franco, editor
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- 2021
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4. 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
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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
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- 2024
5. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
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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.
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- 2020
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6. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort
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Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Romanini, Antonella, Mazzoni, Laura, 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, Player, Jon, Tse, Chiu-Kit, Rebbeck, Timothy, Walker, Amy, Panossian, Saarene, Setlow, Richard, Mohrenweiser, Harvey, Autier, Philippe, Han, Jiali, Caini, Saverio, Hofman, Albert, Kayser, Manfred, Liu, Fan, Nijsten, Tamar, Uitterlinden, Andre G., Kumar, Rajiv, Bishop, Tim, Elliott, Faye, Lazovich, DeAnn, Polsky, David, Hansson, Johan, Pastorino, Lorenza, Gruis, Nelleke A., Bouwes Bavinck, Jan Nico, Aguilera, Paula, Badenas, Celia, Carrera, Cristina, Gimenez-Xavier, Pol, Malvehy, Josep, Puig-Butille, Joan Anton, Tell-Marti, Gemma, Blizzard, Leigh, Cochrane, Jennifer, Branicki, Wojciech, Debniak, Tadeusz, Morling, Niels, Johansen, Peter, Mayne, Susan, Bale, Allen, Cartmel, Brenda, Ferrucci, Leah, Pfeiffer, Ruth, Palmieri, Giuseppe, Kypreou, Katerina, Bowcock, Anne, Cornelius, Lynn, Council, M. Laurin, Motokawa, Tomonori, Anno, Sumiko, Helsing, Per, Andresen, Per Arne, Guida, Stefania, Wong, Terence H., Pellegrini, Cristina, Botta, Francesca, Massi, Daniela, Martorelli, Claudia, Facchetti, Fabio, Gandini, Sara, Maisonneuve, Patrick, Avril, Marie-Françoise, Demenais, Florence, Bressac-de Paillerets, Brigitte, 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, 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, and Raimondi, Sara
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- 2019
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7. CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients
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Dalmasso, Bruna, Pastorino, Lorenza, Ciccarese, Giulia, Andreotti, Virginia, Grillo, Federica, Mastracci, Luca, Spagnolo, Francesco, Ballestrero, Alberto, Queirolo, Paola, Bruno, William, and Ghiorzo, Paola
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- 2019
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8. Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer
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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.
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- 2022
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9. Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome
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Andreotti, Virginia, primary, Vanni, Irene, additional, Pastorino, Lorenza, additional, Ghiorzo, Paola, additional, and Bruno, William, additional
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- 2024
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10. Molecular Assessment in Patients with Melanoma: When and Why?
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Dalmasso, Bruna, primary, Vanni, Irene, additional, Bruno, William, additional, Andreotti, Virginia, additional, Pastorino, Lorenza, additional, Spagnolo, Francesco, additional, and Ghiorzo, Paola, additional
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- 2020
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11. Coping with formalin banning in pathology: under vacuum long-term tissue storage with no added formalin
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Mastracci, Luca, Gambella, Alessandro, Bragoni, Alberto, Pigozzi, Simona, Pastorino, Lorenza, Vanni, Irene, Tosi, Ilaria, Campora, Michela, Fiocca, Roberto, and Grillo, Federica
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- 2019
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12. Pancreatic Cancer: From Genetic Mechanisms to Translational Challenges
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Pastorino, Lorenza, primary, Ghiorzo, Paola, additional, and Bruno, William, additional
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- 2023
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13. Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup
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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
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- 2016
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14. Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting
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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
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- 2023
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15. Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma
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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
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- 2022
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16. 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
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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.
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- 2016
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17. A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer
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Martinuzzi, Claudia, Pastorino, Lorenza, Andreotti, Virginia, Garuti, Anna, Minuto, Michele, Fiocca, Roberto, Bianchi-Scarrà, Giovanna, Ghiorzo, Paola, Grillo, Federica, and Mastracci, Luca
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- 2016
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18. Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients
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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
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- 2022
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19. Cancer risk and tumour spectrum in 172 patients with a germlineSUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group
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Guerrini-Rousseau, Léa, primary, Masliah-Planchon, Julien, additional, Waszak, Sebastian M, additional, Alhopuro, Pia, additional, Benusiglio, Patrick R, additional, Bourdeaut, Franck, additional, Brecht, Ines B, additional, Del Baldo, Giada, additional, Dhanda, Sandeep Kumar, additional, Garrè, Maria Luisa, additional, Gidding, Corrie E M, additional, Hirsch, Steffen, additional, Hoarau, Pauline, additional, Jorgensen, Mette, additional, Kratz, Christian, additional, Lafay-Cousin, Lucie, additional, Mastronuzzi, Angela, additional, Pastorino, Lorenza, additional, Pfister, Stefan M, additional, Schroeder, Christopher, additional, Smith, Miriam Jane, additional, Vahteristo, Pia, additional, Vibert, Roseline, additional, Vilain, Catheline, additional, Waespe, Nicolas, additional, Winship, Ingrid M, additional, Evans, D Gareth, additional, and Brugieres, Laurence, additional
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- 2022
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20. MEDB-35. Relationship between genetic profile, histology, clinical features and long-term outcome in young children medulloblastoma (YCMB) treated with upfront high dose chemotherapy (HDCT) in Italy
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Garrè, Maria Luisa, primary, Massimino, Maura, additional, Buttarelli, Francesca Romana, additional, Gandola, Lorenza, additional, Barra, Salvina, additional, Giangaspero, Felice, additional, Goschzik, Tobias, additional, Biassoni, Veronica, additional, Pastorino, Lorenza, additional, Pistorio, Angela, additional, and Pietsch, Torsten, additional
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- 2022
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21. The CDKN2A/p16INK4a 5′UTR sequence and translational regulation: impact of novel variants predisposing to melanoma
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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
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- 2016
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22. Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family
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Bandini, Erika, primary, Cangini, Ilaria, additional, Arcangeli, Valentina, additional, Ravegnani, Mila, additional, Andreotti, Virginia, additional, Prisinzano, Giovanna, additional, Pastorino, Lorenza, additional, Martinelli, Giovanni, additional, Falcini, Fabio, additional, Calistri, Daniele, additional, Zampiga, Valentina, additional, and Danesi, Rita, additional
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- 2022
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23. Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci
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Cook, Anthony L., Chen, Wei, Thurber, Amy E., Smit, Darren J., Smith, Aaron G., Bladen, Timothy G., Brown, Darren L., Duffy, David L., Pastorino, Lorenza, Bianchi-Scarra, Giovanna, Helen Leonard, J., Stow, Jennifer L., and Sturm, Richard A.
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- 2009
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24. Clinical genetic testing for familial melanoma in Italy: A cooperative study
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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
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- 2009
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25. Insights into Mechanisms of Tumorigenesis in Neuroendocrine Neoplasms
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Pastorino, Lorenza, primary, Grillo, Federica, additional, Albertelli, Manuela, additional, Ghiorzo, Paola, additional, and Bruno, William, additional
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- 2021
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26. Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome
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Ponti, Giovanni, Pastorino, Lorenza, Pollio, Annamaria, Nasti, Sabina, Pellacani, Giovanni, Mignogna, Michele D., Tomasi, Aldo, Del Forno, Corrado, Longo, Caterina, Bianchi-Scarrà, Giovanna, Ficarra, Guido, and Seidenari, Stefania
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- 2012
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27. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
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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
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- 2011
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28. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment
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Scaini, Maria Chiara, Minervini, Giovanni, Elefanti, Lisa, Ghiorzo, Paola, Pastorino, Lorenza, Tognazzo, Silvia, Agata, Simona, Quaggio, Monica, Zullato, Daniela, Bianchi-Scarrà, Giovanna, Montagna, Marco, DʼAndrea, Emma, Menin, Chiara, and Tosatto, Silvio C.E.
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- 2014
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29. COVID‐19 spreading across world correlates with C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene prevalence
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Ponti, Giovanni, primary, Pastorino, Lorenza, additional, Manfredini, Marco, additional, Ozben, Tomris, additional, Oliva, Gabriella, additional, Kaleci, Shaniko, additional, Iannella, Raffaele, additional, and Tomasi, Aldo, additional
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- 2021
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30. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
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Puntervoll, Hanne Eknes, Yang, Xiaohong R, Vetti, Hildegunn Høberg, Bachmann, Ingeborg M, Avril, Marie Françoise, Benfodda, Meriem, Catricalà, Caterina, Dalle, Stéphane, Duval-Modeste, Anne B, Ghiorzo, Paola, Grammatico, Paola, Harland, Mark, Hayward, Nicholas K, Hu, Hui-Han, Jouary, Thomas, Martin-Denavit, Tanguy, Ozola, Aija, Palmer, Jane M, Pastorino, Lorenza, Pjanova, Dace, Soufir, Nadem, Steine, Solrun J, Stratigos, Alexander J, Thomas, Luc, Tinat, Julie, Tsao, Hensin, Veinalde, Rūta, Tucker, Margaret A, Bressac-de Paillerets, Brigitte, Newton-Bishop, Julia A, Goldstein, Alisa M, Akslen, Lars A, and Molven, Anders
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- 2013
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31. MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients
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Ghiorzo, Paola, Bonelli, Luigina, Pastorino, Lorenza, Bruno, William, Barile, Monica, Andreotti, Virginia, Nasti, Sabina, Battistuzzi, Linda, Grosso, Marco, Bianchi-Scarrà, Giovanna, and Queirolo, Paola
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- 2012
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32. CDKN2A is the main susceptibility gene in Italian pancreatic cancer families
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Ghiorzo, Paola, Fornarini, Giuseppe, Sciallero, Stefania, Battistuzzi, Linda, Belli, Fiorenza, Bernard, Loris, Bonelli, Luigina, Borgonovo, Giacomo, Bruno, William, De Cian, Franco, DeCensi, Andrea, Filauro, Marco, Faravelli, Francesca, Gozza, Alberto, Gargiulo, Sara, Mariette, Frederique, Nasti, Sabina, Pastorino, Lorenza, Queirolo, Paola, Savarino, Vincenzo, Varesco, Liliana, and Scarrà, Giovanna Bianchi
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- 2012
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33. Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications
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Vanni, Irene, primary, Tanda, Enrica Teresa, additional, Dalmasso, Bruna, additional, Pastorino, Lorenza, additional, Andreotti, Virginia, additional, Bruno, William, additional, Boutros, Andrea, additional, Spagnolo, Francesco, additional, and Ghiorzo, Paola, additional
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- 2020
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34. Functional analysis of CDKN2A/p16INK4a 5′-UTR variants predisposing to melanoma
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Bisio, Alessandra, Nasti, Sabina, Jordan, Jennifer J., Gargiulo, Sara, Pastorino, Lorenza, Provenzani, Alessandro, Quattrone, Alessandro, Queirolo, Paola, Bianchi-Scarrà, Giovanna, Ghiorzo, Paola, and Inga, Alberto
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- 2010
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35. Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
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Bertolotto, Corine, Lesueur, Fabienne, Giuliano, Sandy, Strub, Thomas, de Lichy, Mahaut, Bille, Karine, Dessen, Philippe, d%apos, 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, Aubin, François, Bachollet, Bertrand, Becuwe, Céline, Berthet, Pascaline, Jean Bignon, Yves, Bonadona, Valérie, Bonafe, Jean-Louis, Bonnet-Dupeyron, Marie-Noëlle, Cambazard, Fréderic, Chevrant-Breton, Jacqueline, Coupier, Isabelle, Dalac, Sophie, Demange, Liliane, Incan, Michel, Dugast, Catherine, Faivre, Laurence, Vincent-Fétita, Lynda, Gauthier-Villars, Marion, Gilbert, Brigitte, Grange, Florent, Grob, Jean-Jacques, Humbert, Philippe, Janin, Nicolas, Joly, Pascal, Kerob, Delphine, Lasset, Christine, Leroux, Dominique, Levang, Julien, Limacher, Jean-Marc, Livideanu, Cristina, Longy, Michel, Lortholary, Alain, Stoppa-Lyonnet, Dominique, Mansard, Sandrine, Mansuy, Ludovic, Marrou, Karine, Matéus, Christine, Maugard, Christine, Meyer, Nicolas, Nogues, Catherine, Souteyrand, Pierre, Venat-Bouvet, Laurence, Zattara, Hélène, Chaudru, Valérie, Lenoir, Gilbert M., Lathrop, Mark, Davidson, Irwin, Avril, Marie-Françoise, Demenais, Florence, Ballotti, Robert, and Bressac-de Paillerets, Brigitte
- Abstract
Author(s): Corine Bertolotto; Fabienne Lesueur; Sandy Giuliano; Thomas Strub; Mahaut de Lichy; Karine Bille; Philippe Dessen; Benoit d%apos;Hayer; Hamida Mohamdi; Audrey Remenieras; Eve Maubec; Arnaud de la Fouchardière; Vincent Molinié; [...]
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- 2016
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36. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort
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Pellegrini, Cristina, Botta, Francesca, Massi, Daniela, Martorelli, Claudia, Facchetti, Fabio, Gandini, Sara, Maisonneuve, Patrick, Avril, Marie-Françoise, Demenais, Florence, Bressac-de Paillerets, Brigitte, 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, Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Mazzoni, Laura, 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, Player, Jon, Tse, Chiu-Kit, Rebbeck, Timothy, Walker, Amy, Panossian, Saarene, Setlow, Richard, Mohrenweiser, Harvey, Autier, Philippe, Han, Jiali, Caini, Saverio, Hofman, Albert, Kayser, Manfred, Liu, Fan, Nijsten, Tamar, Uitterlinden, Andre G., Kumar, Rajiv, Bishop, Tim, Elliott, Faye, Lazovich, Deann, Polsky, David, Hansson, Johan, Pastorino, Lorenza, Gruis, Nelleke A., Bouwes Bavinck, Jan Nico, Aguilera, Paula, Badenas, Celia, Carrera, Cristina, Gimenez-Xavier, Pol, Malvehy, Josep, Puig-Butille, Joan Anton, Tell-Marti, Gemma, Blizzard, Leigh, Cochrane, Jennifer, Branicki, Wojciech, Debniak, Tadeusz, Morling, Niels, Johansen, Peter, Mayne, Susan, Bale, Allen, Cartmel, Brenda, Ferrucci, Leah, Pfeiffer, Ruth, Palmieri, Giuseppe, Kypreou, Katerina, Bowcock, Anne, Cornelius, Lynn, Council, M. Laurin, Motokawa, Tomonori, Anno, Sumiko, Helsing, Per, Andresen, Per Arne, Guida, Stefania, Wong, Collaborators (98): Alaibac M, Terence H., Ferrari, A, Valeri, B, Et, Al., Pellegrini, C., Botta, F., Massi, D., Martorelli, C., Facchetti, F., Gandini, S., Maisonneuve, P., Avril, M. -F., Demenais, F., Bressac-de Paillerets, B., Hoiom, V., Cust, A. E., Anton-Culver, H., Gruber, S. B., Gallagher, R. P., Marrett, L., Zanetti, R., Dwyer, T., Thomas, N. E., Begg, C. B., Berwick, M., Puig, S., Potrony, M., Nagore, E., Ghiorzo, P., Menin, C., Manganoni, A. M., Rodolfo, M., Brugnara, S., Passoni, E., Sekulovic, L. K., Baldini, F., Guida, G., Stratigos, A., Ozdemir, F., Ayala, F., Fernandez-de-Misa, R., Quaglino, P., Ribas, G., Romanini, A., Migliano, E., Stanganelli, I., Kanetsky, P. A., Pizzichetta, M. A., Garcia-Borron, J. C., Nan, H., Landi, M. T., Little, J., Newton-Bishop, J., Sera, F., Fargnoli, M. C., Raimondi, S., Alaibac, M., Ferrari, A., Valeri, B., Sicher, M., Mangiola, D., Nazzaro, G., Tosti, G., Mazzarol, G., Giudice, G., Ribero, S., Astrua, C., Mazzoni, L., Orlow, I., Mujumdar, U., Hummer, A., Busam, K., Roy, P., Canchola, R., Clas, B., Cotignola, J., Monroe, Y., Armstrong, B., Kricker, A., Litchfield, M., Tucker, P., Stephens, N., Switzer, T., Theis, B., From, L., Chowdhury, N., Vanasse, L., Purdue, M., Northrup, D., Rosso, S., Sacerdote, C., Leighton, N., Gildea, M., Bonner, J., Jeter, J., Klotz, J., Wilcox, H., Weiss, H., Millikan, R., Mattingly, D., Player, J., Tse, C. -K., Rebbeck, T., Walker, A., Panossian, S., Setlow, R., Mohrenweiser, H., Autier, P., Han, J., Caini, S., Hofman, A., Kayser, M., Liu, F., Nijsten, T., Uitterlinden, A. G., Kumar, R., Bishop, T., Elliott, F., Lazovich, D., Polsky, D., Hansson, J., Pastorino, L., Gruis, N. A., Bouwes Bavinck, J. N., Aguilera, P., Badenas, C., Carrera, C., Gimenez-Xavier, P., Malvehy, J., Puig-Butille, J. A., Tell-Marti, G., Blizzard, L., Cochrane, J., Branicki, W., Debniak, T., Morling, N., Johansen, P., Mayne, S., Bale, A., Cartmel, B., Ferrucci, L., Pfeiffer, R., Palmieri, G., Kypreou, K., Bowcock, A., Cornelius, L., Council, M. L., Motokawa, T., Anno, S., Helsing, P., Andresen, P. A., Guida, S., Wong, T. H., Ege Üniversitesi, Epidemiology, Genetic Identification, and Dermatology
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Male ,Skin Neoplasms ,Pediatrics ,Cohort Studies ,0302 clinical medicine ,Odds Ratio ,Developmental and Educational Psychology ,Pediatrics, Perinatology and Child Health ,030212 general & internal medicine ,Child ,Cancer ,Pediatric ,Tumor ,childhood disease ,Middle Aged ,Perinatology and Child Health ,cohort analysis ,Meta-analysis ,Melanocortin ,Cohort ,Female ,MC1R gene ,Receptor, Melanocortin, Type 1 ,Receptor ,Type 1 ,Cohort study ,Adult ,medicine.medical_specialty ,adolescent ,melanoma ,cohort analysi ,Subgroup analysis ,Article ,03 medical and health sciences ,Genetic ,Clinical Research ,030225 pediatrics ,Internal medicine ,Genetics ,Biomarkers, Tumor ,medicine ,Humans ,Genetic Predisposition to Disease ,Polymorphism ,Germ-Line Mutation ,Aged ,Retrospective Studies ,Polymorphism, Genetic ,business.industry ,Prevention ,Case-control study ,Retrospective cohort study ,GEM Study Group ,Odds ratio ,Logistic Models ,M-SKIP Study Group ,Case-Control Studies ,Cutaneous melanoma ,IMI Study Group ,business ,Biomarkers - Abstract
Ferrari, Andrea/0000-0002-4724-0517; Pellegrini, Cristina/0000-0003-2168-8097; Migliano, Emilia/0000-0002-5316-8937; Maisonneuve, Patrick/0000-0002-5309-4704; Guida, Stefania/0000-0002-8221-6694; Pastorino, Lorenza/0000-0002-2575-8331; CARRERA, CRISTINA/0000-0003-1608-8820; Paillerets, Brigitte Bressac-de/0000-0003-0245-8608; Sekulovic, Lidija Kandolf/0000-0002-5221-5068; Caini, Saverio/0000-0002-2262-1102; Potrony, Miriam/0000-0003-2766-0765; Pizzichetta, Maria Antonietta/0000-0002-4201-8490; Little, Julian/0000-0001-5026-5531; Nagore, Eduardo/0000-0003-3433-8707; Polsky, David/0000-0001-9554-5289; Demenais, Florence/0000-0001-8361-0936; Nazzaro, Gianluca/0000-0001-8534-6497; gandini, sara/0000-0002-1348-4548; Cornelius, Lynn A/0000-0002-6329-2819; Palmieri, Giuseppe/0000-0002-4350-2276; Cotignola, Javier/0000-0003-4473-9854; Ghiorzo, Paola/0000-0002-3651-8173; Autier, Philippe/0000-0003-1538-5321; Bishop, Tim/0000-0002-8752-8785; Sera, Francesco/0000-0002-8890-6848; Newton-Bishop, Julia/0000-0001-9147-6802; Litchfield, Melisa/0000-0003-0002-7724, WOS: 000464254100018, PubMed: 30872112, Background Germline 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. Methods in 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. Findings We 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. Interpretation Our 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. Copyright (c) 2019 Elsevier Ltd. All rights reserved., [AIRC-MFAG-11831]; NATIONAL CANCER INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086] Funding Source: NIH RePORTER, SPD-Pilot/Project-Award-2015; AIRC-MFAG-11831.
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- 2019
37. Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries
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Goldstein, Alisa M., Chaudru, Valerie, Ghiorzo, Paola, Badenas, Celia, Malvehy, Josep, Pastorino, Lorenza, Laud, Karine, Hulley, Benjamin, Avril, Marie-Francoise, Puig-Butille, Joan A., Miniere, Annie, Marti, Rosa, Chompret, Agnes, Cuellar, Francisco, Kolm, Isabel, Mila, Montserrat, Tucker, Margaret A., Demenais, Florence, Bianchi-Scarra, Giovanna, Puig, Susana, and de-Paillerets, Brigitte Bressac
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- 2007
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38. Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma
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Ghiorzo, Paola, Gargiulo, Sara, Pastorino, Lorenza, Nasti, Sabina, Cusano, Roberto, Bruno, William, Gliori, Sara, Sertoli, Mario R., Burroni, Anna, Savarino, Vincenzo, Gensini, Francesca, Sestini, Roberta, Queirolo, Paola, Goldstein, Alisa M., and Scarrà, Giovanna Bianchi
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- 2006
39. Inverse correlation between p16INK4A expression and NF-κB activation in melanoma progression
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Ghiorzo, Paola, Mantelli, Michela, Gargiulo, Sara, Gramigni, Claudia, Pastorino, Lorenza, Banelli, Barbara, Villaggio, Barbara, Coccia, Maria Cristina, Sementa, Angela Rita, Garrè, Cecilia, and Bianchi-Scarrà, Giovanna
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- 2004
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40. Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome
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Ponti Giovanni, Tomasi Aldo, Pastorino Lorenza, Ruini Cristel, Guarneri Carmelo, Mandel Victor, Seidenari Stefania, and Pellacani Giovanni
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Café au lait spots ,Nevoid basal cell carcinoma syndrome ,PTCH1 mutation ,Neurofibromatosis type 1 ,Genodermatoses ,Hereditary cancer syndrome ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 ,Genetics ,QH426-470 - Abstract
Abstract Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences.
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- 2012
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41. MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project
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Tagliabue, Elena, Gandini, Sara, Bellocco, Rino, Maisonneuve, Patrick, Newton-Bishop, Julia, Polsky, David, Lazovich, Deann, Kanetsky, Peter A., Ghiorzo, Paola, Gruis, Nelleke A., Landi, Maria Teresa, Menin, Chiara, Fargnoli, Maria Concetta, García-Borrón, Jose Carlos, Han, Jiali, Little, Julian, Sera, Francesco, Raimondi, Sara, M-SKIP sudy group, Pastorino, Lorenza, Tagliabue, E, Gandini, S, Bellocco, R, Maisonneuve, P, Newton-Bishop, J, Polsky, D, Lazovich, D, Kanetsky, P, Ghiorzo, P, Gruis, N, Landi, M, Menin, C, Fargnoli, M, Garcia-Borron, J, Han, J, Little, J, Sera, F, and Raimondi, S
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genetic epidemiology ,Pigmentation ,Pooled-analysis ,Cutaneous melanoma ,Genetic epidemiology ,Melanocortin 1 receptor ,Pooled analysis ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,lcsh:RC254-282 ,mc1r gene ,cutaneous melanoma ,melanocortin 1 receptor ,Cutaneous melanoma, Genetic epidemiology, Melanocortin 1 receptor, Pigmentation, Pooled analysis, Oncology ,Oncology ,Cancer Management and Research ,melanoma ,pigmentation ,Melanocortin-1 Receptor ,pooled analysis ,Original Research - Abstract
Elena Tagliabue,1 Sara Gandini,2 Rino Bellocco,3,4 Patrick Maisonneuve,2 Julia Newton-Bishop,5 David Polsky,6 DeAnn Lazovich,7 Peter A Kanetsky,8 Paola Ghiorzo,9,10 Nelleke A Gruis,11 Maria Teresa Landi,12 Chiara Menin,13 Maria Concetta Fargnoli,14 Jose Carlos García-Borrón,15,16 Jiali Han,17 Julian Little,18 Francesco Sera,19 Sara Raimondi2 On behalf of the M-SKIP Study Group 1Clinical Trial Center, Scientific Directorate, Fondazione IRCCS Istituto Nazionale dei Tumori, 2Division of Epidemiology and Biostatistics, European Institute of Oncology, Milan, Italy; 3Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; 4Department of Statistics and Quantitative Methods, University of Milano-Bicocca, Milan, Italy; 5Section of Epidemiology and Biostatistics, Institute of Cancer and Pathology, University of Leeds, Leeds, UK; 6Ronald O. Perelman Department of Dermatology, New York University School of Medicine, NYU Langone Medical Center, New York, NY, 7Division of Epidemiology and Community Health, University of Minnesota, MN, 8Department of Cancer Epidemiology, H Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA; 9Department of Internal Medicine and Medical Specialties, University of Genoa, 10IRCCS AOU San Martino-IST, Genoa, Italy; 11Department of Dermatology, Leiden University Medical Center, Leiden, the Netherlands; 12Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, USA; 13Immunology and Molecular Oncology Unit, Veneto Institute of Oncology, IOV-IRCCS, Padua, 14Department of Dermatology, University of L’Aquila, L’Aquila, Italy; 15Department of Biochemistry, Molecular Biology, and Immunology, University of Murcia, 16IMIB-Arrixaca, Murcia, Spain; 17Department of Epidemiology, Richard M Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, USA; 18School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada; 19Department of Social and Environmental Health Research, London School of Hygiene and Tropical Medicine, London, UK Purpose: Melanoma represents an important public health problem, due to its high case-fatality rate. Identification of individuals at high risk would be of major interest to improve early diagnosis and ultimately survival. The aim of this study was to evaluate whether MC1R variants predicted melanoma risk independently of at-risk phenotypic characteristics. Materials and methods: Data were collected within an international collaboration – the M-SKIP project. The present pooled analysis included data on 3,830 single, primary, sporadic, cutaneous melanoma cases and 2,619 controls from seven previously published case–control studies. All the studies had information on MC1R gene variants by sequencing analysis and on hair color, skin phototype, and freckles, ie, the phenotypic characteristics used to define the red hair phenotype. Results: The presence of any MC1R variant was associated with melanoma risk independently of phenotypic characteristics (OR 1.60; 95% CI 1.36–1.88). Inclusion of MC1R variants in a risk prediction model increased melanoma predictive accuracy (area under the receiver-operating characteristic curve) by 0.7% over a base clinical model (P=0.002), and 24% of participants were better assessed (net reclassification index 95% CI 20%–30%). Subgroup analysis suggested a possibly stronger role of MC1R in melanoma prediction for participants without the red hair phenotype (net reclassification index: 28%) compared to paler skinned participants (15%). Conclusion: The authors suggest that measuring the MC1R genotype might result in a benefit for melanoma prediction. The results could be a valid starting point to guide the development of scientific protocols assessing melanoma risk prediction tools incorporating the MC1R genotype. Keywords: pooled analysis, genetic epidemiology, cutaneous melanoma, melanocortin 1 receptor, pigmentation
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- 2018
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42. Cancer risk and tumour spectrum in 172 patients with a germline SUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group
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Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Waszak, Sebastian M, Alhopuro, Pia, Benusiglio, Patrick R, Bourdeaut, Franck, Brecht, Ines B, Del Baldo, Giada, Dhanda, Sandeep Kumar, Garrè, Maria Luisa, Gidding, Corrie E M, Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M, Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M, Evans, D Gareth, and Brugieres, Laurence
- Abstract
BackgroundLittle is known about risks associated with germline SUFUpathogenic variants (PVs) known as a cancer predisposition syndrome.MethodsTo study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFUPV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFUPV (89 patients) using the Nelson-Aalen estimator.ResultsOverall, 117/172 (68%) SUFUPV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFUgene and inherited in 73% of cases in which inheritance could be evaluated.ConclusionGermline SUFUPV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.
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- 2022
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43. Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project
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Raimondi, Sara, Autier, Philippe, Fargnoli, Maria Concetta, García-Borrón, José C., Han, Jiali, Kanetsky, Peter A., Landi, Maria Teresa, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Caini, Saverio, Gandini, Sara, Maisonneuve, Patrick, Hofman, Albert, Kayser, Manfred, Liu, Fan, Nijsten, Tamar, Uitterlinden, Andre G., Kumar, Rajiv, Scherer, Dominique, Bishop, Tim, Elliott, Faye, Nagore, Eduardo, Lazovich, DeAnn, Polsky, David, Hansson, Johan, Hoiom, Veronica, Ghiorzo, Paola, Pastorino, Lorenza, Gruis, Nelleke A., Bouwes Bavinck, Jan Nico, Aguilera, Paula, Badenas, Celia, Carrera, Cristina, Gimenez-Xavier, Pol, Malvehy, Josep, Potrony, Miriam, Puig, Susana, Puig-Butille, Joan Anton, Tell-Marti, Gemma, Dwyer, Terence, Blizzard, Leigh, Cochrane, Jennifer, Fernandez-de-Misa, Ricardo, Branicki, Wojciech, Debniak, Tadeusz, Morling, Niels, Johansen, Peter, Mayne, Susan, Bale, Allen, Cartmel, Brenda, Ferrucci, Leah, Pfeiffer, Ruth, Palmieri, Giuseppe, Ribas, Gloria, Menin, Chiara, Stratigos, Alexander, Kypreou, Katerina, Bowcock, Anne, Cornelius, Lynn, Council, M. Laurin, Motokawa, Tomonori, Anno, Sumiko, Helsing, Per, Andresen, Per Arne, Guida, Gabriella, Guida, Stefania, Wong, Terence H., and Tagliabue, Elena
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- 2016
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44. Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).
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Vanni, Irene, Casula, Milena, Pastorino, Lorenza, Manca, Antonella, Dalmasso, Bruna, Andreotti, Virginia, Pisano, Marina, Colombino, Maria, Italian Association for Cancer Research (AIRC) Study Group, Covre, Alessia, Di Giacomo, Anna Maria, Maio, Michele, De Logu, Francesco, Massi, Daniela, Portelli, Francesca, Anichini, Andrea, Mortarini, Roberta, Bruno, William, Cabiddu, Francesco, and Spagnolo, Francesco
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NUCLEOTIDE sequencing ,MELANOMA ,BRAF genes ,SOMATIC mutation ,GENE frequency ,DETECTION limit - Abstract
Background: Identification of somatic mutations in key oncogenes in melanoma is important to lead the effective and efficient use of personalized anticancer treatment. Conventional methods focus on few genes per run and, therefore, are unable to screen for multiple genes simultaneously. The use of Next-Generation Sequencing (NGS) technologies enables sequencing of multiple cancer-driving genes in a single assay, with reduced costs and DNA quantity needed and increased mutation detection sensitivity. Methods: We designed a customized IMI somatic gene panel for targeted sequencing of actionable melanoma mutations; this panel was tested on three different NGS platforms using 11 metastatic melanoma tissue samples in blinded manner between two EMQN quality certificated laboratory. Results: The detection limit of our assay was set-up to a Variant Allele Frequency (VAF) of 10% with a coverage of at least 200x. All somatic variants detected by all NGS platforms with a VAF ≥ 10%, were also validated by an independent method. The IMI panel achieved a very good concordance among the three NGS platforms. Conclusion: This study demonstrated that, using the main sequencing platforms currently available in the diagnostic setting, the IMI panel can be adopted among different centers providing comparable results. [ABSTRACT FROM AUTHOR]
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- 2020
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45. Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations.
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Helgadottir, Hildur, Ghiorzo, Paola, Van Doorn, Remco, Puig, Susana, Levin, Max, Kefford, Richard, Lauss, Martin, Queirolo, Paola, Pastorino, Lorenza, Kapiteijn, Ellen, Potrony, Miriam, Carrera, Cristina, Olsson, Håkan, Höiom, Veronica, and Jönsson, Göran
- Abstract
Background Inherited CDKN2A mutation is a strong risk factor for cutaneous melanoma. Moreover, carriers have been found to have poor melanoma- specific survival. In this study, responses to novel immunotherapy agents in CDKN2A mutation carriers with metastatic melanoma were evaluated. Methods CDKN2A mutation carriers that have developed metastatic melanoma and undergone immunotherapy treatments were identified among carriers enrolled in follow- up studies for familial melanoma. the carriers' responses were compared with responses reported in phase III clinical trials for CtLA-4 and pD-1 inhibitors. From publicly available data sets, melanomas with somatic CDKN2A mutation were analysed for association with tumour mutational load. results eleven of 19 carriers (58%) responded to the therapy, a significantly higher frequency than observed in clinical trials (p=0.03, binomial test against an expected rate of 37%). Further, 6 of the 19 carriers (32%) had complete response, a significantly higher frequency than observed in clinical trials (p=0.01, binomial test against an expected rate of 7%). In 118 melanomas with somatic CDKN2A mutations, significantly higher total numbers of mutations were observed compared with 761 melanomas without CDKN2A mutation (Wilcoxon test, p<0.001). Conclusion patients with CDKN2A mutated melanoma may have improved immunotherapy responses due to increased tumour mutational load, resulting in more neoantigens and stronger antitumorous immune responses. [ABSTRACT FROM AUTHOR]
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- 2020
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46. Comprehensive Study of the Clinical Phenotype of GermlineBAP1Variant-Carrying Families Worldwide
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Walpole, Sebastian, primary, Pritchard, Antonia L, additional, Cebulla, Colleen M, additional, Pilarski, Robert, additional, Stautberg, Meredith, additional, Davidorf, Frederick H, additional, de la Fouchardière, Arnaud, additional, Cabaret, Odile, additional, Golmard, Lisa, additional, Stoppa-Lyonnet, Dominique, additional, Garfield, Erin, additional, Njauw, Ching-Ni, additional, Cheung, Mitchell, additional, Turunen, Joni A, additional, Repo, Pauliina, additional, Järvinen, Reetta-Stiina, additional, van Doorn, Remco, additional, Jager, Martine J, additional, Luyten, Gregorius P M, additional, Marinkovic, Marina, additional, Chau, Cindy, additional, Potrony, Miriam, additional, Höiom, Veronica, additional, Helgadottir, Hildur, additional, Pastorino, Lorenza, additional, Bruno, William, additional, Andreotti, Virginia, additional, Dalmasso, Bruna, additional, Ciccarese, Giulia, additional, Queirolo, Paola, additional, Mastracci, Luca, additional, Wadt, Karin, additional, Kiilgaard, Jens Folke, additional, Speicher, Michael R, additional, van Poppelen, Natasha, additional, Kilic, Emine, additional, Al-Jamal, Rana’a T, additional, Dianzani, Irma, additional, Betti, Marta, additional, Bergmann, Carsten, additional, Santagata, Sandro, additional, Dahiya, Sonika, additional, Taibjee, Saleem, additional, Burke, Jo, additional, Poplawski, Nicola, additional, O’Shea, Sally J, additional, Newton-Bishop, Julia, additional, Adlard, Julian, additional, Adams, David J, additional, Lane, Anne-Marie, additional, Kim, Ivana, additional, Klebe, Sonja, additional, Racher, Hilary, additional, Harbour, J William, additional, Nickerson, Michael L, additional, Murali, Rajmohan, additional, Palmer, Jane M, additional, Howlie, Madeleine, additional, Symmons, Judith, additional, Hamilton, Hayley, additional, Warrier, Sunil, additional, Glasson, William, additional, Johansson, Peter, additional, Robles-Espinoza, Carla Daniela, additional, Ossio, Raul, additional, de Klein, Annelies, additional, Puig, Susana, additional, Ghiorzo, Paola, additional, Nielsen, Maartje, additional, Kivelä, Tero T, additional, Tsao, Hensin, additional, Testa, Joseph R, additional, Gerami, Pedram, additional, Stern, Marc-Henri, additional, Paillerets, Brigitte Bressac-de, additional, Abdel-Rahman, Mohamed H, additional, and Hayward, Nicholas K, additional
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- 2018
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47. Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations
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Helgadottir, Hildur, primary, Ghiorzo, Paola, additional, van Doorn, Remco, additional, Puig, Susana, additional, Levin, Max, additional, Kefford, Richard, additional, Lauss, Martin, additional, Queirolo, Paola, additional, Pastorino, Lorenza, additional, Kapiteijn, Ellen, additional, Potrony, Miriam, additional, Carrera, Cristina, additional, Olsson, Håkan, additional, Höiom, Veronica, additional, and Jönsson, Göran, additional
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- 2018
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48. Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma
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Gu, Fangyi, primary, Chen, Ting-Huei, additional, Pfeiffer, Ruth M, additional, Fargnoli, Maria Concetta, additional, Calista, Donato, additional, Ghiorzo, Paola, additional, Peris, Ketty, additional, Puig, Susana, additional, Menin, Chiara, additional, De Nicolo, Arcangela, additional, Rodolfo, Monica, additional, Pellegrini, Cristina, additional, Pastorino, Lorenza, additional, Evangelou, Evangelos, additional, Zhang, Tongwu, additional, Hua, Xing, additional, DellaValle, Curt T, additional, Timothy Bishop, D, additional, MacGregor, Stuart, additional, Iles, Mark I, additional, Law, Matthew H, additional, Cust, Anne, additional, Brown, Kevin M, additional, Stratigos, Alexander J, additional, Nagore, Eduardo, additional, Chanock, Stephen, additional, Shi, Jianxin, additional, Consortium, Melanoma Meta-Analysis, additional, Consortium, MelaNostrum, additional, and Landi, Maria Teresa, additional
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- 2018
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49. Correction: Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations
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Bruno, William, primary, Martinuzzi, Claudia, additional, Dalmasso, Bruna, additional, Andreotti, Virginia, additional, Pastorino, Lorenza, additional, Cabiddu, Francesco, additional, Gualco, Marina, additional, Spagnolo, Francesco, additional, Ballestrero, Alberto, additional, Queirolo, Paola, additional, Grillo, Federica, additional, Mastracci, Luca, additional, and Ghiorzo, Paola, additional
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- 2018
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50. Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
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Walpole, Sebastian, Pritchard, Antonia L, Cebulla, Colleen M, Pilarski, Robert, Stautberg, Meredith, Davidorf, Frederick H, de la Fouchardière, Arnaud, Cabaret, Odile, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Garfield, Erin, Njauw, Ching-Ni, Cheung, Mitchell, Turunen, Joni A, Repo, Pauliina, Järvinen, Reetta-Stiina, van Doorn, Remco, Jager, Martine J, Luyten, Gregorius P M, Marinkovic, Marina, Chau, Cindy, Potrony, Miriam, Höiom, Veronica, Helgadottir, Hildur, Pastorino, Lorenza, Bruno, William, Andreotti, Virginia, Dalmasso, Bruna, Ciccarese, Giulia, Queirolo, Paola, Mastracci, Luca, Wadt, Karin, Kiilgaard, Jens Folke, Speicher, Michael R, van Poppelen, Natasha, Kilic, Emine, Al-Jamal, Rana'a T, Dianzani, Irma, Betti, Marta, Bergmann, Carsten, Santagata, Sandro, Dahiya, Sonika, Taibjee, Saleem, Burke, Jo, Poplawski, Nicola, O'Shea, Sally J, Newton-Bishop, Julia, Adlard, Julian, Adams, David J, Lane, Anne-Marie, Kim, Ivana, Klebe, Sonja, Racher, Hilary, Harbour, J William, Nickerson, Michael L, Murali, Rajmohan, Palmer, Jane M, Howlie, Madeleine, Symmons, Judith, Hamilton, Hayley, Warrier, Sunil, Glasson, William, Johansson, Peter, Robles-Espinoza, Carla Daniela, Ossio, Raul, de Klein, Annelies, Puig, Susana, Ghiorzo, Paola, Nielsen, Maartje, Kivelä, Tero T, Tsao, Hensin, Testa, Joseph R, Gerami, Pedram, Stern, Marc-Henri, Paillerets, Brigitte Bressac-de, Abdel-Rahman, Mohamed H, Hayward, Nicholas K, Walpole, Sebastian, Pritchard, Antonia L, Cebulla, Colleen M, Pilarski, Robert, Stautberg, Meredith, Davidorf, Frederick H, de la Fouchardière, Arnaud, Cabaret, Odile, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Garfield, Erin, Njauw, Ching-Ni, Cheung, Mitchell, Turunen, Joni A, Repo, Pauliina, Järvinen, Reetta-Stiina, van Doorn, Remco, Jager, Martine J, Luyten, Gregorius P M, Marinkovic, Marina, Chau, Cindy, Potrony, Miriam, Höiom, Veronica, Helgadottir, Hildur, Pastorino, Lorenza, Bruno, William, Andreotti, Virginia, Dalmasso, Bruna, Ciccarese, Giulia, Queirolo, Paola, Mastracci, Luca, Wadt, Karin, Kiilgaard, Jens Folke, Speicher, Michael R, van Poppelen, Natasha, Kilic, Emine, Al-Jamal, Rana'a T, Dianzani, Irma, Betti, Marta, Bergmann, Carsten, Santagata, Sandro, Dahiya, Sonika, Taibjee, Saleem, Burke, Jo, Poplawski, Nicola, O'Shea, Sally J, Newton-Bishop, Julia, Adlard, Julian, Adams, David J, Lane, Anne-Marie, Kim, Ivana, Klebe, Sonja, Racher, Hilary, Harbour, J William, Nickerson, Michael L, Murali, Rajmohan, Palmer, Jane M, Howlie, Madeleine, Symmons, Judith, Hamilton, Hayley, Warrier, Sunil, Glasson, William, Johansson, Peter, Robles-Espinoza, Carla Daniela, Ossio, Raul, de Klein, Annelies, Puig, Susana, Ghiorzo, Paola, Nielsen, Maartje, Kivelä, Tero T, Tsao, Hensin, Testa, Joseph R, Gerami, Pedram, Stern, Marc-Henri, Paillerets, Brigitte Bressac-de, Abdel-Rahman, Mohamed H, and Hayward, Nicholas K
- Abstract
Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors.Methods: We collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families worldwide to better characterize the genotypes and phenotypes associated with the BAP1-TPDS. Tumor spectrum and ages of onset were compared between missense and null variants. All statistical tests were two-sided.Results: The 181 families carried 140 unique BAP1 germline variants. The collated data confirmed the core tumor spectrum associated with the BAP1-TPDS and showed that some families carrying missense variants can exhibit this phenotype. A variety of noncore BAP1-TPDS -associated tumors were found in families of variant carriers. Median ages of onset of core tumor types were lower in null than missense variant carriers for all tumors combined (P < .001), mesothelioma (P < .001), cutaneous melanoma (P < .001), and nonmelanoma skin cancer (P < .001).Conclusions: This analysis substantially increases the number of pathogenic BAP1 germline variants and refines the phenotype. It highlights the need for a curated registry of germline variant carriers for proper assessment of the clinical phenotype of the BAP1-TPDS and pathogenicity of new variants, thus guiding management of patients and informing
- Published
- 2018
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