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

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Fältnamn	Indikatorer	Metadata
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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By the author/editor: Taylor, Nicholas ...; Mitra, Nandita; Qian, Lu; Avril, Marie-Fra ...; Bishop, D Timoth ...; Paillerets, Brig ...; show more...; Bruno, William; Calista, Donato; Cuellar, Francis ...; Cust, Anne E; Demenais, Floren ...; Elder, David E; Gerdes, Anne-Mar ...; Ghiorzo, Paola; Goldstein, Alisa ...; Grazziotin, Thai ...; Gruis, Nelleke A; Hansson, Johan; Harland, Mark; Hayward, Nichola ...; Hocevar, Marko; Höiom, Veronica; Holland, Elizabe ...; Ingvar, Christia ...; Landi, Maria Ter ...; Landman, Gilles; Larre-Borges, Al ...; Mann, Graham J; Nagore, Eduardo; Olsson, Håkan; Palmer, Jane M; Perić, Barbara; Pjanova, Dace; Pritchard, Anton ...; Puig, Susana; Schmid, Helen; van der Stoep, N ...; Tucker, Margaret ...; Wadt, Karin A W; Yang, Xiaohong R; Newton-Bishop, J ...; Kanetsky, Peter ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

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