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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
Journal of Medical Genetics · 2006 · Vol. 44(2) · pp. 99–106
Alexa Goldstein✉(Division of Cancer Epidemiology and Genetics)May Chan(Cancer Research UK)Mark Harland(Cancer Research UK)Nicholas K. Hayward(QIMR Berghofer Medical Research Institute)Florence Démenais(Inserm)D. Timothy Bishop(Cancer Research UK)Esther Azizi(Sheba Medical Center)W. Bergman(Leiden University Medical Center)Giovanna Bianchi‐Scarrà(University of Genoa)William Bruno(University of Genoa)Donato Calista(Ospedale “M. Bufalini” di Cesena)Lisa Cannon‐Albright(University of Utah)Valérie Chaudru(Inserm)Agnès Chompret(Institut Gustave Roussy)F. Cuéllar(Consorci Institut D'Investigacions Biomediques August Pi I Sunyer)Dawn E. Elder(University of Pennsylvania)Paola Ghiorzo(University of Genoa)Elizabeth M. Gillanders(National Institutes of Health)Nelleke A. Gruis(Leiden University Medical Center)Johan Hansson(Karolinska Institutet)David Hogg(University of Toronto)Elizabeth A. Holland(Westmead Institute)Peter A. Kanetsky(University of Pennsylvania)Richard Kefford(Westmead Institute)M.T. Landi(National Cancer Institute)Julie Lang(University of Glasgow)Sancy A. Leachman(Huntsman Cancer Institute)R.M. MacKie(University of Glasgow)Veronica Magnusson(Karolinska University Hospital)Graham J. Mann(Westmead Institute)Julia Newton‐Bishop(Cancer Research UK)Jane M. Palmer(QIMR Berghofer Medical Research Institute)Susana Puig(Consorci Institut D'Investigacions Biomediques August Pi I Sunyer)Joan A. Puig‐Butille(Hospital Clínic de Barcelona)Mitchell Stark(QIMR Berghofer Medical Research Institute)Hensin Tsao(Massachusetts General Hospital)M. A. Tucker(Division of Cancer Epidemiology and Genetics)Linton A. Whitáker(Cancer Research UK)Emanuel Yakobson(Tel Aviv University)
Abstract
The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia. The lack of a pancreatic cancer-CDKN2A mutation relationship in Australia probably reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe. GenoMEL is exploring candidate host, genetic and/or environmental risk factors to better understand the variation observed.
Cancer Genomics and DiagnosticsCutaneous Melanoma Detection and ManagementBRCA gene mutations in cancerCDKN2APancreatic cancerGermline mutationMelanomaIncidence (geometry)MedicineCancerDemographyOncologyInternal medicine
MeSH terms
AustraliaEuropeFemaleHumansMaleMelanomaNorth AmericaSkin NeoplasmsGenetic VariationIncidenceGerm-Line MutationCyclin-Dependent Kinase Inhibitor p16
Funding
- Cancer Australia
Citations
470
FWCI
6.50
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References
52
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97%
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