Sökning: onr:"swepub:oai:lup.lub.lu.se:10c123b0-f236-4bff-a830-f8308a594272" > Estimating CDKN2A m...
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000 | 06364naa a2200829 4500 | |
001 | oai:lup.lub.lu.se:10c123b0-f236-4bff-a830-f8308a594272 | |
003 | SwePub | |
008 | 190227s2019 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:141363295 | |
024 | 7 | a https://lup.lub.lu.se/record/10c123b0-f236-4bff-a830-f8308a5942722 URI |
024 | 7 | a https://doi.org/10.1016/j.jaad.2019.01.0792 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1413632952 URI |
040 | a (SwePub)lud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Taylor, Nicholas Ju Texas A and M University4 aut |
245 | 1 0 | a Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT |
264 | 1 | b Elsevier BV,c 2019 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
700 | 1 | a Mitra, Nanditau University of Pennsylvania4 aut |
700 | 1 | a Qian, Luu H. Lee Moffitt Cancer Center & Research Institute4 aut |
700 | 1 | a Avril, Marie-Françoiseu Assistance Publique des Hôpitaux de Paris4 aut |
700 | 1 | a Bishop, D Timothyu University of Leeds4 aut |
700 | 1 | a Paillerets, Brigitte Bressac-deu University of Paris-Saclay4 aut |
700 | 1 | a Bruno, Williamu University of Genoa,Ospedale Policlinico San Martino4 aut |
700 | 1 | a Calista, Donatou Maurizio Bufalini Hospital4 aut |
700 | 1 | a Cuellar, Franciscou University of Barcelona,Hospital Clínic of Barcelona4 aut |
700 | 1 | a Cust, Anne Eu University of Sydney4 aut |
700 | 1 | a Demenais, Florenceu Paris Diderot University4 aut |
700 | 1 | a Elder, David Eu University of Pennsylvania4 aut |
700 | 1 | a Gerdes, Anne-Marieu Copenhagen University Hospital4 aut |
700 | 1 | a Ghiorzo, Paolau University of Genoa,Ospedale Policlinico San Martino4 aut |
700 | 1 | a Goldstein, Alisa Mu National Cancer Institute, USA4 aut |
700 | 1 | a Grazziotin, Thais Cu Pontifical Catholic University of Rio Grande do Sul4 aut |
700 | 1 | a Gruis, Nelleke Au Leiden University Medical Centre4 aut |
700 | 1 | a Hansson, Johanu Karolinska Institutet,Karolinska Institute4 aut |
700 | 1 | a Harland, Marku University of Leeds4 aut |
700 | 1 | a Hayward, Nicholas Ku QIMR Berghofer Medical Research Institute4 aut |
700 | 1 | a Hocevar, Markou Institute of Oncology, Ljubljana4 aut |
700 | 1 | a Höiom, Veronicau Karolinska Institutet,Karolinska Institute4 aut |
700 | 1 | a Holland, Elizabeth Au University of Sydney4 aut |
700 | 1 | a Ingvar, Christianu Skåne University Hospital4 aut0 (Swepub:lu)kir-cin |
700 | 1 | a Landi, Maria Teresau National Cancer Institute, USA4 aut |
700 | 1 | a Landman, Gillesu Federal University of São Paulo4 aut |
700 | 1 | a Larre-Borges, Alejandrau University of the Republic4 aut |
700 | 1 | a Mann, Graham Ju University of Sydney4 aut |
700 | 1 | a Nagore, Eduardou Instituto Valenciano de Oncologia4 aut |
700 | 1 | a Olsson, Håkanu Lund University,Lunds universitet,Skåne University Hospital4 aut0 (Swepub:lu)onk-hol |
700 | 1 | a Palmer, Jane Mu QIMR Berghofer Medical Research Institute4 aut |
700 | 1 | a Perić, Barbarau Institute of Oncology, Ljubljana4 aut |
700 | 1 | a Pjanova, Daceu Latvian Biomedical Research and Study Centre4 aut |
700 | 1 | a Pritchard, Antonia Lu QIMR Berghofer Medical Research Institute4 aut |
700 | 1 | a Puig, Susanau Hospital Clínic of Barcelona,University of Barcelona,Carlos III Health Institute4 aut |
700 | 1 | a Schmid, Helenu University of Sydney4 aut |
700 | 1 | a van der Stoep, Nienkeu Leiden University Medical Centre4 aut |
700 | 1 | a Tucker, Margaret Au National Cancer Institute, USA4 aut |
700 | 1 | a Wadt, Karin A Wu Copenhagen University Hospital4 aut |
700 | 1 | a Yang, Xiaohong Ru National Cancer Institute, USA4 aut |
700 | 1 | a Newton-Bishop, Julia Au University of Leeds4 aut |
700 | 1 | a Kanetsky, Peter Au H. Lee Moffitt Cancer Center & Research Institute4 aut |
710 | 2 | a Texas A and M Universityb University of Pennsylvania4 org |
710 | 2 | a GenoMEL Study Group |
773 | 0 | t Journal of the American Academy of Dermatologyd : Elsevier BVg 81:2, s. 386-394q 81:2<386-394x 0190-9622x 1097-6787 |
856 | 4 | u http://dx.doi.org/10.1016/j.jaad.2019.01.079y FULLTEXT |
856 | 4 | u https://iris.unige.it/bitstream/11567/955554/1/Taylor%20Genomel%20predict%202019%201-s2.0-S0190962219301902-main.pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/10c123b0-f236-4bff-a830-f8308a594272 |
856 | 4 8 | u https://doi.org/10.1016/j.jaad.2019.01.079 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:141363295 |
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