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

Although rare in the general population, highly penetrant germline mutations in CDKN2A are responsible for 5%-40% of melanoma cases reported in melanoma-prone families. We sought to determine whether MELPREDICT was generalizable to a global series of families with melanoma and whether performance im...

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Veröffentlicht in:Journal of the American Academy of Dermatology 2019-08, Vol.81 (2), p.386-394
Hauptverfasser: 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.
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Sprache:eng
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