Blood DNA methylation, nevi number and the risk of melanoma.

por Pergoli, Laura, Favero, Chiara, Ruth M., Pfeiffer, Tarantini, Letizia, Calista, Donato, Cavalleri, Tommaso, Angelici, Laura, Consonni, Dario, Pier A., Bertazzi, Angela C., Pesatori, Maria T., Landi, Bollati, Valentina
Publicado en Melanoma Res (2014)

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

por 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
Publicado en PLoS Genet (2019)

Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family

por 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.
Publicado 2012

MC1R Variants Increase Risk of Melanomas Harboring BRAF Mutations

por Fargnoli, Maria Concetia, Pike, Kris, Pfeiffer, Ruth M., Tsang, Shirley, Rozenblum, Ester, Munroe, David J., Golubeva, Yelena, Calista, Donato, Seidenari, Stefania, Massi, Daniela, Carli, Paolo, Bauer, Juergen, Elder, David E., Bastian, Boris C., Peris, Ketty, Landi, Maria T.
Publicado 2008

Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain

por Sargen, Michael R., Calista, Donato, Elder, David E., Massi, Daniela, Chu, Emily Y., Potrony, Míriam, Pfeiffer, Ruth M., Carrera, Cristina, Aguilera, Paula, Alos, Llucia, Puig, Susana, Elenitsas, Rosalie, Yang, Xiaohong R., Tucker, Margaret A., Landi, Maria Teresa, Goldstein, Alisa M.
Publicado en J Am Acad Dermatol (2020)

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

por 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
Publicado 2012

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

por 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.
Publicado 2013

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

por 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
Publicado en Hum Mol Genet (2018)

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma‐prone families from three continents

por Goldstein, Alisa M, Chan, May, Harland, Mark, Hayward, Nicholas K, Demenais, Florence, Bishop, D Timothy, Azizi, Esther, Bergman, Wilma, Bianchi‐Scarra, Giovanna, Bruno, William, Calista, Donato, Albright, Lisa A Cannon, Chaudru, Valerie, Chompret, Agnes, Cuellar, Francisco, Elder, David E, Ghiorzo, Paola, Gillanders, Elizabeth M, Gruis, Nelleke A, Hansson, Johan, Hogg, David, Holland, Elizabeth A, Kanetsky, Peter A, Kefford, Richard F, Landi, Maria Teresa, Lang, Julie, Leachman, Sancy A, MacKie, Rona M, Magnusson, Veronica, Mann, Graham J, Bishop, Julia Newton, Palmer, Jane M, Puig, Susana, Puig‐Butille, Joan A, Stark, Mitchell, Tsao, Hensin, Tucker, Margaret A, Whitaker, Linda, Yakobson, Emanuel, Group, The Lund Melanoma Study
Publicado 2007

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

por Taylor, Nicholas J., Mitra, Nandita, Qian, Lu, Avril, Marie-Françoise, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M., Grazziotin, Thais C., Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia L., Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A., Wadt, Karin A. W., Yang, Xiaohong R., Newton-Bishop, Julia A., Kanetsky, Peter A.
Publicado en J Am Acad Dermatol (2019)

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

por 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
Publicado 2014

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families

por Taylor, Nicholas J., Mitra, Nandita, Goldstein, Alisa M., Tucker, Margaret A., Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D. Timothy, Paillerets, Brigitte Bressac-de, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C., Hansson, Johan, Harland, Mark, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A. W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., Kanetsky, Peter A.
Publicado en J Invest Dermatol (2017)

Phenotypic and histopathological tumor characteristics according to CDKN2A mutation status among affected members of melanoma families

por Taylor, Nicholas J., Handorf, Elizabeth A., Mitra, Nandita, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Friedman, Eitan, Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M., Grazziotin, Thais C., Hansson, Johan, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane, Perić, Barbara, Pjanova, Dace, Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A., Wadt, Karin A. W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., Kanetsky, Peter A.
Publicado en J Invest Dermatol (2016)

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

por 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.
Publicado en Genome Med (2018)

Genome-wide association study identifies three loci associated with melanoma risk

por Bishop, D Timothy, Demenais, Florence, Iles, Mark M, Harland, Mark, Taylor, John C., Corda, Eve, Randerson-Moor, Juliette, Aitken, Joanne F., Avril, Marie-Francoise, Azizi, Esther, Bakker, Bert, Bianchi-Scarrà, Giovanna, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A., Chin-a-Woeng, Thomas, Dębniak, Tadeusz, Galore-Haskel, Gilli, Ghiorzo, Paola, Gut, Ivo, Hansson, Johan, Hocevar, Marko, Höiom, Veronica, Hopper, John L., Ingvar, Christian, Kanetsky, Peter A., Kefford, Richard F., Landi, Maria Teresa, Lang, Julie, Lubiński, Jan, Mackie, Rona, Malvehy, Josep, Mann, Graham J., Martin, Nicholas G., Montgomery, Grant W., van Nieuwpoort, Frans A, Novakovic, Srdjan, Olsson, Håkan, Puig, Susana, Weiss, Marjan, van Workum, Wilbert, Zelenika, Diana, Brown, Kevin M, Goldstein, Alisa M., Gillanders, Elizabeth M., Boland, Anne, Galan, Pilar, Elder, David E., Gruis, Nelleke A, Hayward, Nicholas K., Lathrop, G. Mark, Barrett, Jennifer H, Newton Bishop, Julia A
Publicado 2009

Genome-wide association study identifies three new melanoma susceptibility loci

por Barrett, Jennifer H, Iles, Mark M, Harland, Mark, Taylor, John C, Aitken, Joanne F, Andresen, Per Arne, Akslen, Lars A, Armstrong, Bruce K, Avril, Marie-Francoise, Azizi, Esther, Bakker, Bert, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Paillerets, Brigitte Bressac-de, Calista, Donato, Cannon-Albright, Lisa A, Corda, Eve, Cust, Anne E, Dębniak, Tadeusz, Duffy, David, Dunning, Alison, Easton, Douglas F, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Giles, Graham G, Hansson, Johan, Hocevar, Marko, Höiom, Veronica, Hopper, John L, Ingvar, Christian, Janssen, Bart, Jenkins, Mark A, Jönsson, Göran, Kefford, Richard F, Landi, Giorgio, Landi, Maria Teresa, Lang, Julie, Lubiński, Jan, Mackie, Rona, Malvehy, Josep, Martin, Nicholas G, Molven, Anders, Montgomery, Grant W, van Nieuwpoort, Frans A, Novakovic, Srdjan, Olsson, Håkan, Pastorino, Lorenza, Puig, Susana, Puig-Butille, Joan Anton, Randerson-Moor, Juliette, Snowden, Helen, Tuominen, Rainer, Van Belle, Patricia, van der Stoep, Nienke, Whiteman, David C, Zelenika, Diana, Han, Jiali, Fang, Shenying, Lee, Jeffrey E, Wei, Qingyi, Lathrop, G Mark, Gillanders, Elizabeth M, Brown, Kevin M, Goldstein, Alisa M, Kanetsky, Peter A, Mann, Graham J, MacGregor, Stuart, Elder, David E, Amos, Christopher I, Hayward, Nicholas K, Gruis, Nelleke A, Demenais, Florence, Newton Bishop, Julia A, Bishop, D Timothy
Publicado 2011

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

por 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
Publicado 2013

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

por 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.
Publicado en Nat Genet (2020)