Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions
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, G. Mark, 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, D. Timothy, Iles, Mark M.
Published in International journal of cancer (15.03.2015)
Published in International journal of cancer (15.03.2015)
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Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes
Ponti, Giovanni, Nasti, Sabina, Losi, Lorena, Pastorino, Lorenza, Pollio, Annamaria, Benassi, Luisa, Giudice, Stefania, Bertazzoni, Giorgia, Veratti, Eugenia, Azzoni, Paola, Bianchi Scarrà, Giovanna, Seidenari, Stefania
Published in Journal of cutaneous pathology (01.03.2012)
Published in Journal of cutaneous pathology (01.03.2012)
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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Shi, Jianxin, Yang, Xiaohong R, Ballew, Bari, Rotunno, Melissa, Calista, Donato, Fargnoli, Maria Concetta, Ghiorzo, Paola, Bressac-de Paillerets, Brigitte, Nagore, Eduardo, Avril, Marie Francoise, Caporaso, Neil E, McMaster, Mary L, Cullen, Michael, Wang, Zhaoming, Zhang, Xijun, Bruno, William, Pastorino, Lorenza, Queirolo, Paola, Banuls-Roca, Jose, Garcia-Casado, Zaida, Vaysse, Amaury, Mohamdi, Hamida, Riazalhosseini, Yasser, Foglio, Mario, Jouenne, Fanélie, Hua, Xing, Hyland, Paula L, Yin, Jinhu, Vallabhaneni, Haritha, Chai, Weihang, Minghetti, Paola, Pellegrini, Cristina, Ravichandran, Sarangan, Eggermont, Alexander, Lathrop, Mark, Peris, Ketty, Scarra, Giovanna Bianchi, Landi, Giorgio, Savage, Sharon A, Sampson, Joshua N, He, Ji, Yeager, Meredith, Goldin, Lynn R, Demenais, Florence, Chanock, Stephen J, Tucker, Margaret A, Goldstein, Alisa M, Liu, Yie, Landi, Maria Teresa
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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Novel MC1R variants in Ligurian melanoma patients and controls
Pastorino, Lorenza, Cusano, Roberto, Bruno, William, Lantieri, Francesca, Origone, Paola, Barile, Monica, Gliori, Sara, Shepherd, Graeme A., Sturm, Richard A., Scarra, Giovanna Bianchi
Published in Human mutation (01.07.2004)
Published in Human mutation (01.07.2004)
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Increased Risk of Colorectal Adenomas in Italian Subjects Carrying the p53 PIN3 A2-Pro72 Haplotype
Perfumo, Chiara, Bonelli, Luigina, Menichini, Paola, Inga, Alberto, Gismondi, Viviana, Ciferri, Enrico, Percivale, Pierluigi, Bianchi Scarrà, Giovanna, Nasti, Sabina, Fronza, Gilberto, Varesco, Liliana
Published in Digestion (01.01.2006)
Published in Digestion (01.01.2006)
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The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length
ILES, Mark M, BISHOP, D. Timothy, ANDRESEN, Per A, AVRIL, Marie-Françoise, AZIZI, Esther, SCARRA, Giovanna Bianchi, BROWN, Kevin M, DEBNIAK, Tadeusz, ELDER, David E, FRIEDMAN, Eitan, GHIORZO, Paola, GILLANDERS, Elizabeth M, TAYLOR, John C, GOLDSTEIN, Alisa M, GRUIS, Nelleke A, HANSSON, Johan, HARLAND, Mark, HELSING, Per, HOCEVAR, Marko, HÖIOM, Veronica, INGVAR, Christian, KANETSKY, Peter A, LANDI, Mariateresa, HAYWARD, Nicholas K, LANG, Julie, LATHROP, G. Mark, LUBINSKI, Jan, MACKIE, Rona M, MARTIN, Nicholas G, MOLVEN, Anders, MONTGOMERY, Grant W, NOVAKOVIC, Srdjan, OLSSON, Håkan, PUIG, Susana, BROSSARD, Myriam, PUIG-BUTILLE, Joan Anton, RADFORD-SMITH, Graham L, RANDERSON-MOR, Juliette, VAN DER STOEP, Nienke, VAN DOORN, Remco, WHITEMAN, David C, MACGREGOR, Stuart, POOLEY, Karen A, WARD, Sarah V, MANN, Graham J, CUST, Anne E, AMOS, Christopher I, PHARAOH, Paul D. P, DEMENAIS, Florence, LAW, Matthew H, NEWTON BISHOP, Julia A, BARRETT, Jennifer H, DUNNING, Alison M, LEE, Jeffrey E, MOSES, Eric K, AKSLEN, Lars A
Published in JNCI : Journal of the National Cancer Institute (01.10.2014)
Published in JNCI : Journal of the National Cancer Institute (01.10.2014)
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CDKN2A is the main susceptibility gene in Italian pancreatic cancer families
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, Scarrà, Giovanna Bianchi
Published in Journal of medical genetics (01.03.2012)
Published in Journal of medical genetics (01.03.2012)
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Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci
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., Sturm, Richard A.
Published in Journal of investigative dermatology (01.02.2009)
Published in Journal of investigative dermatology (01.02.2009)
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Histologic features of melanoma associated with CDKN2A genotype
Sargen, Michael R., MD, Kanetsky, Peter A., PhD, MPH, Newton-Bishop, Julia, MD, FMedSci, Hayward, Nicholas K., PhD, Mann, Graham J., MBBS, PhD, Gruis, Nelleke A., PhD, Tucker, Margaret A., MD, Goldstein, Alisa M., PhD, Bianchi-Scarra, Giovanna, PhD, Puig, Susana, MD, Elder, David E., MB, ChB, FRCPA
Published in Journal of the American Academy of Dermatology (01.03.2015)
Published in Journal of the American Academy of Dermatology (01.03.2015)
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Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development
Bruno, William, Andreotti, Virginia, Bisio, Alessandra, Pastorino, Lorenza, Fornarini, Giuseppe, Sciallero, Stefania, Bianchi-Scarrà, Giovanna, Inga, Alberto, Ghiorzo, Paola
Published in PloS one (07.12.2017)
Published in PloS one (07.12.2017)
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MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients
Ghiorzo, Paola, Bonelli, Luigina, Pastorino, Lorenza, Bruno, William, Barile, Monica, Andreotti, Virginia, Nasti, Sabina, Battistuzzi, Linda, Grosso, Marco, Bianchi-Scarrà, Giovanna, Queirolo, Paola
Published in Experimental dermatology (01.09.2012)
Published in Experimental dermatology (01.09.2012)
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CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment
Scaini, Maria Chiara, Minervini, Giovanni, Elefanti, Lisa, Ghiorzo, Paola, Pastorino, Lorenza, Tognazzo, Silvia, Agata, Simona, Quaggio, Monica, Zullato, Daniela, Bianchi-Scarrà, Giovanna, Montagna, Marco, D'Andrea, Emma, Menin, Chiara, Tosatto, Silvio C.E.
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome
Pastorino, Lorenza, Pollio, Annamaria, Pellacani, Giovanni, Guarneri, Carmelo, Ghiorzo, Paola, Longo, Caterina, Bruno, William, Giusti, Francesca, Bassoli, Sara, Bianchi-Scarrà, Giovanna, Ruini, Cristel, Seidenari, Stefania, Tomasi, Aldo, Ponti, Giovanni
Published in PloS one (27.08.2012)
Published in PloS one (27.08.2012)
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Association of Genetic Variants in CDK6 and XRCC1 with the Risk of Dysplastic Nevi in Melanoma-Prone Families
Liang, Xueying, Pfeiffer, Ruth M., Li, Wen-Qing, Brossard, Myriam, Burke, Laura S., Wheeler, William, Calista, Donato, Fargnoli, Maria Concetta, Ghiorzo, Paola, Peris, Ketty, Bianchi-Scarra, Giovanna, Chaudru, Valerie, Zelenika, Diana, Maeder, Dennis, Burdette, Laurie, Yeager, Meredith, Chanock, Stephen, Landi, Maria Teresa, Demenais, Florence, Tucker, Margaret A., Goldstein, Alisa M., Yang, Xiaohong R.
Published in Journal of investigative dermatology (01.02.2014)
Published in Journal of investigative dermatology (01.02.2014)
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On the interplay of telomeres, nevi and the risk of melanoma
Bodelon, Clara, Pfeiffer, Ruth M, Bollati, Valentina, Debbache, Julien, Calista, Donato, Ghiorzo, Paola, Fargnoli, Maria Concetta, Bianchi-Scarra, Giovanna, Peris, Ketty, Hoxha, Mirjam, Hutchinson, Amy, Burdette, Laurie, Burke, Laura, Fang, Shenying, Tucker, Margaret A, Goldstein, Alisa M, Lee, Jeffrey E, Wei, Qingyi, Savage, Sharon A, Yang, Xiaohong R, Amos, Christopher, Landi, Maria Teresa
Published in PloS one (27.12.2012)
Published in PloS one (27.12.2012)
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Coexisting NRAS and BRAF Mutations in Primary Familial Melanomas with Specific CDKN2A Germline Alterations
Jovanovic, Braslav, Egyhazi, Suzanne, Eskandarpour, Malihe, Ghiorzo, Paola, Palmer, Jane M., Bianchi Scarrà, Giovanna, Hayward, Nicholas K., Hansson, Johan
Published in Journal of investigative dermatology (01.02.2010)
Published in Journal of investigative dermatology (01.02.2010)
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Clinical genetic testing for familial melanoma in Italy: A cooperative study
Bruno, William, MD, PhD, Ghiorzo, Paola, PhD, Battistuzzi, Linda, MS, Ascierto, Paolo A., MD, Barile, Monica, MD, Gargiulo, Sara, PhD, Gensini, Francesca, MD, Gliori, Sara, MD, Guida, Michele, MD, Lombardo, Maurizio, MD, Manoukian, Siranoush, MD, Menin, Chiara, PhD, Nasti, Sabina, PhD, Origone, Paola, PhD, Pasini, Barbara, MD, Pastorino, Lorenza, PhD, Peissel, Bernard, MD, Pizzichetta, Maria Antonietta, MD, Queirolo, Paola, MD, Rodolfo, Monica, PhD, Romanini, Antonella, MD, Scaini, Maria Chiara, PhD, Testori, Alessandro, MD, Tibiletti, Maria Grazia, MD, Turchetti, Daniela, MD, Leachman, Sancy A., MD, Bianchi Scarrà, Giovanna, PhD
Published in Journal of the American Academy of Dermatology (01.11.2009)
Published in Journal of the American Academy of Dermatology (01.11.2009)
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Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries
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, de‐Paillerets, Brigitte Bressac
Published in International journal of cancer (15.08.2007)
Published in International journal of cancer (15.08.2007)
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Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family
Yang, Xiaohong R., Brown, Kevin, Landi, Maria T., Ghiorzo, Paola, Badenas, Celia, Xu, Mai, Hayward, Nicholas K., Calista, Donato, Landi, Giorgio, Bruno, William, Bianchi-Scarrà, Giovanna, Aguilera, Paula, Puig, Susana, Goldstein, Alisa M., Tucker, Margaret A.
Published in Pigment cell and melanoma research (01.03.2012)
Published in Pigment cell and melanoma research (01.03.2012)
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