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Estimating CDKN2A m...
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT
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- Taylor, Nicholas J (author)
- Texas A and M University
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- Mitra, Nandita (author)
- University of Pennsylvania
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- Qian, Lu (author)
- H. Lee Moffitt Cancer Center & Research Institute
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- Avril, Marie-Françoise (author)
- Assistance Publique des Hôpitaux de Paris
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- Bishop, D Timothy (author)
- University of Leeds
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- Paillerets, Brigitte Bressac-de (author)
- University of Paris-Saclay
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- Bruno, William (author)
- Ospedale Policlinico San Martino,University of Genoa
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- Calista, Donato (author)
- Maurizio Bufalini Hospital
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- Cuellar, Francisco (author)
- Hospital Clínic of Barcelona,University of Barcelona
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- Cust, Anne E (author)
- University of Sydney
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- Demenais, Florence (author)
- Paris Diderot University
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- Elder, David E (author)
- University of Pennsylvania
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- Gerdes, Anne-Marie (author)
- Copenhagen University Hospital
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- Ghiorzo, Paola (author)
- University of Genoa,Ospedale Policlinico San Martino
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- Goldstein, Alisa M (author)
- National Cancer Institute, USA
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- Grazziotin, Thais C (author)
- Pontifical Catholic University of Rio Grande do Sul
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- Gruis, Nelleke A (author)
- Leiden University Medical Centre
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- Hansson, Johan (author)
- Karolinska Institutet,Karolinska Institute
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- Harland, Mark (author)
- University of Leeds
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- Hayward, Nicholas K (author)
- QIMR Berghofer Medical Research Institute
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- Hocevar, Marko (author)
- Institute of Oncology, Ljubljana
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- Höiom, Veronica (author)
- Karolinska Institutet,Karolinska Institute
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- Holland, Elizabeth A (author)
- University of Sydney
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- Ingvar, Christian (author)
- Skåne University Hospital
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- Landi, Maria Teresa (author)
- National Cancer Institute, USA
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- Landman, Gilles (author)
- Federal University of São Paulo
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- Larre-Borges, Alejandra (author)
- University of the Republic
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- Mann, Graham J (author)
- University of Sydney
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- Nagore, Eduardo (author)
- Instituto Valenciano de Oncologia
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- Olsson, Håkan (author)
- Lund University,Lunds universitet,Skåne University Hospital
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- Palmer, Jane M (author)
- QIMR Berghofer Medical Research Institute
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- Perić, Barbara (author)
- Institute of Oncology, Ljubljana
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- Pjanova, Dace (author)
- Latvian Biomedical Research and Study Centre
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- Pritchard, Antonia L (author)
- QIMR Berghofer Medical Research Institute
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- Puig, Susana (author)
- Carlos III Health Institute,University of Barcelona,Hospital Clínic of Barcelona
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- Schmid, Helen (author)
- University of Sydney
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- van der Stoep, Nienke (author)
- Leiden University Medical Centre
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- Tucker, Margaret A (author)
- National Cancer Institute, USA
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- Wadt, Karin A W (author)
- Copenhagen University Hospital
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- Yang, Xiaohong R (author)
- National Cancer Institute, USA
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- Newton-Bishop, Julia A (author)
- University of Leeds
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- Kanetsky, Peter A (author)
- H. Lee Moffitt Cancer Center & Research Institute
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(creator_code:org_t)
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- Elsevier BV, 2019
- 2019
- English.
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In: Journal of the American Academy of Dermatology. - : Elsevier BV. - 0190-9622 .- 1097-6787. ; 81:2, s. 386-394
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http://dx.doi.org/10...
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https://iris.unige.i...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
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- 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 melanoma families and whether performance improvements can be achieved.METHODS: 2,116 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 (CI) along with net reclassification indices (NRI) 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<0.0001) 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 dataset 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 counselling these patients towards genetic testing or cancer risk counselling.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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- art (subject category)
- ref (subject category)
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- By the author/editor
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Taylor, Nicholas ...
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Mitra, Nandita
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Qian, Lu
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Avril, Marie-Fra ...
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Bishop, D Timoth ...
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Paillerets, Brig ...
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show more...
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Bruno, William
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Calista, Donato
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Cuellar, Francis ...
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Cust, Anne E
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Demenais, Floren ...
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Elder, David E
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Gerdes, Anne-Mar ...
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Ghiorzo, Paola
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Goldstein, Alisa ...
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Grazziotin, Thai ...
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Gruis, Nelleke A
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Hansson, Johan
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Harland, Mark
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Hayward, Nichola ...
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Hocevar, Marko
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Höiom, Veronica
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Holland, Elizabe ...
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Ingvar, Christia ...
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Landi, Maria Ter ...
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Landman, Gilles
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Larre-Borges, Al ...
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Mann, Graham J
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Nagore, Eduardo
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Olsson, Håkan
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Palmer, Jane M
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Perić, Barbara
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Pjanova, Dace
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Pritchard, Anton ...
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Puig, Susana
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Schmid, Helen
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van der Stoep, N ...
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Tucker, Margaret ...
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Wadt, Karin A W
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Yang, Xiaohong R
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Newton-Bishop, J ...
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Kanetsky, Peter ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Journal of the A ...
- By the university
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Lund University
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Karolinska Institutet