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  • Taylor, Nicholas JTexas A and M University (author)

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

  • Article/chapterEnglish2019

Publisher, publication year, extent ...

  • Elsevier BV,2019

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:10c123b0-f236-4bff-a830-f8308a594272
  • https://lup.lub.lu.se/record/10c123b0-f236-4bff-a830-f8308a594272URI
  • https://doi.org/10.1016/j.jaad.2019.01.079DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:141363295URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

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  • Mitra, NanditaUniversity of Pennsylvania (author)
  • Qian, LuH. Lee Moffitt Cancer Center & Research Institute (author)
  • Avril, Marie-FrançoiseAssistance Publique des Hôpitaux de Paris (author)
  • Bishop, D TimothyUniversity of Leeds (author)
  • Paillerets, Brigitte Bressac-deUniversity of Paris-Saclay (author)
  • Bruno, WilliamOspedale Policlinico San Martino,University of Genoa (author)
  • Calista, DonatoMaurizio Bufalini Hospital (author)
  • Cuellar, FranciscoHospital Clínic of Barcelona,University of Barcelona (author)
  • Cust, Anne EUniversity of Sydney (author)
  • Demenais, FlorenceParis Diderot University (author)
  • Elder, David EUniversity of Pennsylvania (author)
  • Gerdes, Anne-MarieCopenhagen University Hospital (author)
  • Ghiorzo, PaolaUniversity of Genoa,Ospedale Policlinico San Martino (author)
  • Goldstein, Alisa MNational Cancer Institute, USA (author)
  • Grazziotin, Thais CPontifical Catholic University of Rio Grande do Sul (author)
  • Gruis, Nelleke ALeiden University Medical Centre (author)
  • Hansson, JohanKarolinska Institutet,Karolinska Institute (author)
  • Harland, MarkUniversity of Leeds (author)
  • Hayward, Nicholas KQIMR Berghofer Medical Research Institute (author)
  • Hocevar, MarkoInstitute of Oncology, Ljubljana (author)
  • Höiom, VeronicaKarolinska Institutet,Karolinska Institute (author)
  • Holland, Elizabeth AUniversity of Sydney (author)
  • Ingvar, ChristianSkåne University Hospital(Swepub:lu)kir-cin (author)
  • Landi, Maria TeresaNational Cancer Institute, USA (author)
  • Landman, GillesFederal University of São Paulo (author)
  • Larre-Borges, AlejandraUniversity of the Republic (author)
  • Mann, Graham JUniversity of Sydney (author)
  • Nagore, EduardoInstituto Valenciano de Oncologia (author)
  • Olsson, HåkanLund University,Lunds universitet,Skåne University Hospital(Swepub:lu)onk-hol (author)
  • Palmer, Jane MQIMR Berghofer Medical Research Institute (author)
  • Perić, BarbaraInstitute of Oncology, Ljubljana (author)
  • Pjanova, DaceLatvian Biomedical Research and Study Centre (author)
  • Pritchard, Antonia LQIMR Berghofer Medical Research Institute (author)
  • Puig, SusanaCarlos III Health Institute,University of Barcelona,Hospital Clínic of Barcelona (author)
  • Schmid, HelenUniversity of Sydney (author)
  • van der Stoep, NienkeLeiden University Medical Centre (author)
  • Tucker, Margaret ANational Cancer Institute, USA (author)
  • Wadt, Karin A WCopenhagen University Hospital (author)
  • Yang, Xiaohong RNational Cancer Institute, USA (author)
  • Newton-Bishop, Julia AUniversity of Leeds (author)
  • Kanetsky, Peter AH. Lee Moffitt Cancer Center & Research Institute (author)
  • Texas A and M UniversityUniversity of Pennsylvania (creator_code:org_t)
  • GenoMEL Study Group

Related titles

  • In:Journal of the American Academy of Dermatology: Elsevier BV81:2, s. 386-3940190-96221097-6787

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