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Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
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; Peric, 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.
Afiliación
  • Taylor NJ; Department of Epidemiology and Biostatistics, Texas A&M University, College Station, Texas.
  • Mitra N; Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Qian L; Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
  • Avril MF; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin et Université Paris Descartes, Paris, France.
  • Bishop DT; Section of Epidemiology and Biostatistics, Leeds Institute of Medical Research at St. James's, University of Leeds, Leeds, United Kingdom.
  • Bressac-de Paillerets B; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie and Institut National de la Santé et de la Recherche Médicale U1186, Villejuif, France.
  • Bruno W; Department of Internal Medicine and Medical Specialties, University of Genoa and Istituto de Ricovero e Cura a Carattere Scientifico AOU San Martino-IST, Genoa, Italy.
  • Calista D; Dermatology Unit, Maurizio Bufalini Hospital, Cesena, Italy.
  • Cuellar F; Melanoma Unit, Dermatology Department, Hospital Clinic Barcelona, Institut de Investigacions Biomediques August Pi Sunyer, Universitat de Barcelona, Barcelona, Spain.
  • Cust AE; Sydney School of Public Health, The University of Sydney, Sydney, Australia; Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
  • Demenais F; Institut National de la Santé et de la Recherche Médicale UMR-946, Genetic Variation and Human Disease Unit, Université Paris Diderot, Paris, France.
  • Elder DE; Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Gerdes AM; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Ghiorzo P; Department of Internal Medicine and Medical Specialties, University of Genoa and Istituto de Ricovero e Cura a Carattere Scientifico AOU San Martino-IST, Genoa, Italy.
  • Goldstein AM; Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  • Grazziotin TC; Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Brazil.
  • Gruis NA; Department of Dermatology, Leiden University Medical Centre, Leiden, the Netherlands.
  • Hansson J; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
  • Harland M; Section of Epidemiology and Biostatistics, Leeds Institute of Medical Research at St. James's, University of Leeds, Leeds, United Kingdom.
  • Hayward NK; QIMR Berghofer Medical Research Institute, Herston, Australia.
  • Hocevar M; Institute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia.
  • Höiom V; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
  • Holland EA; Melanoma Institute Australia, The University of Sydney, Sydney, Australia; Westmead Institute for Medical Research, University of Sydney, Sydney, Australia.
  • Ingvar C; Department of Clinical Sciences, Lund University Hospital Lund, Sweden; Department of Surgery, Lund University Hospital, Lund, Sweden.
  • Landi MT; Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  • Landman G; Department of Pathology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Larre-Borges A; Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
  • Mann GJ; Melanoma Institute Australia, The University of Sydney, Sydney, Australia; Westmead Institute for Medical Research, University of Sydney, Sydney, Australia.
  • Nagore E; Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.
  • Olsson H; Department of Clinical Sciences, Lund University Hospital Lund, Sweden; Department of Surgery, Lund University Hospital, Lund, Sweden.
  • Palmer JM; QIMR Berghofer Medical Research Institute, Herston, Australia.
  • Peric B; Institute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia.
  • Pjanova D; Latvian Biomedical Research and Study Centre, Riga, Latvia.
  • Pritchard AL; QIMR Berghofer Medical Research Institute, Herston, Australia.
  • Puig S; Melanoma Unit, Dermatology Department, Hospital Clinic Barcelona, Institut de Investigacions Biomediques August Pi Sunyer, Universitat de Barcelona, Barcelona, Spain; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.
  • Schmid H; Melanoma Institute Australia, The University of Sydney, Sydney, Australia; Westmead Institute for Medical Research, University of Sydney, Sydney, Australia.
  • van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center Leiden, the Netherlands.
  • Tucker MA; Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  • Wadt KAW; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Yang XR; Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  • Newton-Bishop JA; Section of Epidemiology and Biostatistics, Leeds Institute of Medical Research at St. James's, University of Leeds, Leeds, United Kingdom.
  • Kanetsky PA; Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida. Electronic address: peter.kanetsky@moffitt.org.
J Am Acad Dermatol ; 81(2): 386-394, 2019 Aug.
Article en En | MEDLINE | ID: mdl-30731170
BACKGROUND: 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 improvements can be achieved. METHODS: In total, 2116 familial melanoma cases were ascertained by the international GenoMEL Consortium. We recapitulated the MELPREDICT model within our data (GenoMELPREDICT) to assess performance improvements by adding phenotypic risk factors and history of pancreatic cancer. We report areas under the curve (AUC) with 95% confidence intervals (CIs) along with net reclassification indices (NRIs) as performance metrics. RESULTS: MELPREDICT performed well (AUC 0.752, 95% CI 0.730-0.775), and GenoMELPREDICT performance was similar (AUC 0.748, 95% CI 0.726-0.771). Adding a reported history of pancreatic cancer yielded discriminatory improvement (P < .0001) in GenoMELPREDICT (AUC 0.772, 95% CI 0.750-0.793, NRI 0.40). Including phenotypic risk factors did not improve performance. CONCLUSION: The MELPREDICT model functioned well in a global data set of familial melanoma cases. Adding pancreatic cancer history improved model prediction. GenoMELPREDICT is a simple tool for predicting CDKN2A mutational status among melanoma patients from melanoma-prone families and can aid in directing these patients to receive genetic testing or cancer risk counseling.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Pancreáticas / Neoplasias Cutáneas / Modelos Logísticos / Inhibidor p16 de la Quinasa Dependiente de Ciclina / Predisposición Genética a la Enfermedad / Melanoma Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Humans / Middle aged Idioma: En Revista: J Am Acad Dermatol Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Pancreáticas / Neoplasias Cutáneas / Modelos Logísticos / Inhibidor p16 de la Quinasa Dependiente de Ciclina / Predisposición Genética a la Enfermedad / Melanoma Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Humans / Middle aged Idioma: En Revista: J Am Acad Dermatol Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos