Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies

by Schlafly, Andrew, Pfeiffer, Ruth M., Nagore, Eduardo, Puig, Susana, Calista, Donato, Ghiorzo, Paola, Menin, Chiara, Fargnoli, Maria Concetta, Peris, Ketty, Song, Lei, Zhang, Tongwu, Shi, Jianxin, Landi, Maria Teresa, Sampson, Joshua Neil
Published in PLoS Genet (2019)

MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project

by 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
Published in Cancer Manag Res (2018)

On the Interplay of Telomeres, Nevi and the Risk of Melanoma

by 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 2012

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

by 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 2013

ASSOCIATION OF MELANOCORTIN-1 RECEPTOR VARIANTS WITH PIGMENTARY TRAITS IN HUMANS: A POOLED-ANALYSIS FROM THE M-SKIP PROJECT

by Tagliabue, Elena, Gandini, Sara, García-Borrón, José C, Maisonneuve, Patrick, Newton-Bishop, Julia, Polsky, David, Lazovich, DeAnn, Kumar, Rajiv, Ghiorzo, Paola, Ferrucci, Leah, Gruis, Nelleke A, Puig, Susana, Kanetsky, Peter A, Motokawa, Tomonori, Ribas, Gloria, Landi, Maria Teresa, Fargnoli, Maria Concetta, Wong, Terence H, Stratigos, Alexander, Helsing, Per, Guida, Gabriella, Autier, Philippe, Han, Jiali, Little, Julian, Sera, Francesco, Raimondi, Sara
Published in J Invest Dermatol (2016)

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

by 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, Fargnoli, Maria Concetta
Published in Melanoma Res (2020)

MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project

by 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, M.Laurin, Autier, Philippe, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Raimondi, Sara
Published in Int J Cancer (2014)

Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma

by Gu, Fangyi, Chen, Ting-Huei, Pfeiffer, Ruth M, Fargnoli, Maria Concetta, Calista, Donato, Ghiorzo, Paola, Peris, Ketty, Puig, Susana, Menin, Chiara, De Nicolo, Arcangela, Rodolfo, Monica, Pellegrini, Cristina, Pastorino, Lorenza, Evangelou, Evangelos, Zhang, Tongwu, Hua, Xing, DellaValle, Curt T, Timothy Bishop, D, MacGregor, Stuart, Iles, Mark I, Law, Matthew H, Cust, Anne, Brown, Kevin M, Stratigos, Alexander J, Nagore, Eduardo, Chanock, Stephen, Shi, Jianxin, Consortium, Melanoma Meta-Analysis, Consortium, MelaNostrum, Landi, Maria Teresa
Published in Hum Mol Genet (2018)

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

by Raimondi, Sara, Gandini, Sara, Fargnoli, Maria Concetta, Bagnardi, Vincenzo, Maisonneuve, Patrick, Specchia, Claudia, Kumar, Rajiv, Nagore, Eduardo, Han, Jiali, Hansson, Johan, Kanetsky, Peter A, Ghiorzo, Paola, Gruis, Nelleke A, Dwyer, Terry, Blizzard, Leigh, Fernandez-de-Misa, Ricardo, Branicki, Wojciech, Debniak, Tadeusz, Morling, Niels, Landi, Maria Teresa, Palmieri, Giuseppe, Ribas, Gloria, Stratigos, Alexander, Cornelius, Lynn, Motokawa, Tomonori, Anno, Sumiko, Helsing, Per, Wong, Terence H, Autier, Philippe, García-Borrón, José C, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Liu, Fan, Kayser, Manfred, Nijsten, Tamar
Published 2012

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

by Shi, Jianxin, Yang, Xiaohong R., Ballew, Bari, Rotunno, Melissa, Calista, Donato, Fargnoli, Maria Concetta, Ghiorzo, Paola, Paillerets, Brigitte Bressac-de, 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 2014

MC1R variants in childhood and adolescent melanoma: A pooled-analysis from a large worldwide multicenter cohort of patients

by 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, Alexandras, 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
Published in Lancet Child Adolesc Health (2019)

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

by Kim, Jung, Luo, Wen, Wang, Mingyi, Wegman-Ostrosky, Talia, Frone, Megan N., Johnston, Jennifer J., Nickerson, Michael L., Rotunno, Melissa, Li, Shengchao A., Achatz, Maria I., Brodie, Seth A., Dean, Michael, de Andrade, Kelvin C., Fortes, Fernanda P., Gianferante, Matthew, Khincha, Payal, McMaster, Mary L., McReynolds, Lisa J., Pemov, Alexander, Pinheiro, Maisa, Santiago, Karina M., Alter, Blanche P., Caporaso, Neil E., Gadalla, Shahinaz M., Goldin, Lynn R., Greene, Mark H., Loud, Jennifer, Yang, Xiaohong R., Freedman, Neal D., Gapstur, Susan M., Gaudet, Mia M., Calista, Donato, Ghiorzo, Paola, Fargnoli, Maria Concetta, Nagore, Eduardo, Peris, Ketty, Puig, Susana, Landi, Maria Teresa, Hicks, Belynda, Zhu, Bin, Liu, Jia, Sampson, Joshua N., Chanock, Stephen J., Mirabello, Lisa J., Morton, Lindsay M., Biesecker, Leslie G., Tucker, Margaret A., Savage, Sharon A., Goldstein, Alisa M., Stewart, Douglas R.
Published in Genome Med (2018)

A variant in FTO shows association with melanoma risk not due to BMI

by Iles, Mark M, Law, Matthew H, Stacey, Simon N, Han, Jiali, Fang, Shenying, Pfeiffer, Ruth, Harland, Mark, MacGregor, Stuart, Taylor, John C, Aben, Katja K, Akslen, Lars A, Avril, Marie-Françoise, Azizi, Esther, Bakker, Bert, Benediktsdottir, Kristrun R, Bergman, Wilma, Scarrà, Giovanna Bianchi, Brown, Kevin M, Calista, Donato, Chaudru, Valerié, Fargnoli, Maria Concetta, Cust, Anne E, Demenais, Florence, de Waal, Anne C, Dębniak, Tadeusz, Elder, David E, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M, Goldstein, Alisa M, Gruis, Nelleke A, Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Hopper, John L, Ingvar, Christian, Janssen, Marjolein, Jenkins, Mark A, Kanetsky, Peter A, Kiemeney, Lambertus A, Lang, Julie, Lathrop, G Mark, Leachman, Sancy, Lee, Jeffrey E, Lubiński, Jan, Mackie, Rona M, Mann, Graham J, Mayordomo, Jose I, Molven, Anders, Mulder, Suzanne, Nagore, Eduardo, Novaković, Srdjan, Okamoto, Ichiro, Olafsson, Jon H, Olsson, Håkan, Pehamberger, Hubert, Peris, Ketty, Grasa, Maria Pilar, Planelles, Dolores, Puig, Susana, Puig-Butille, Joan Anton, Randerson-Moor, Juliette, Requena, Celia, Rivoltini, Licia, Rodolfo, Monica, Santinami, Mario, Sigurgeirsson, Bardur, Snowden, Helen, Song, Fengju, Sulem, Patrick, Thorisdottir, Kristin, Tuominen, Rainer, Van Belle, Patricia, van der Stoep, Nienke, van Rossum, Michelle M, Wei, Qingyi, Wendt, Judith, Zelenika, Diana, Zhang, Mingfeng, Landi, Maria Teresa, Thorleifsson, Gudmar, Bishop, D Timothy, Amos, Christopher I, Hayward, Nicholas K, Stefansson, Kari, Bishop, Julia A Newton, Barrett, Jennifer H
Published 2013

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

by 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., Regno, Laura Del, 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., Bishop, Julia A. Newton, Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., Law, Matthew H.
Published in Nat Genet (2020)