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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma‐prone families from three continents</title><author><name sortKey="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M" last="Goldstein">Alisa M. Goldstein</name></author><author><name sortKey="Chan, May" sort="Chan, May" uniqKey="Chan M" first="May" last="Chan">May Chan</name></author><author><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name></author><author><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K" last="Hayward">Nicholas K. Hayward</name></author><author><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name></author><author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name></author><author><name sortKey="Azizi, Esther" sort="Azizi, Esther" uniqKey="Azizi E" first="Esther" last="Azizi">Esther Azizi</name></author><author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name></author><author><name sortKey="Bianchi Carra, Giovanna" sort="Bianchi Carra, Giovanna" uniqKey="Bianchi Carra G" first="Giovanna" last="Bianchi-Scarra">Giovanna Bianchi-Scarra</name></author><author><name sortKey="Bruno, William" sort="Bruno, William" uniqKey="Bruno W" first="William" last="Bruno">William Bruno</name></author><author><name sortKey="Calista, Donato" sort="Calista, Donato" uniqKey="Calista D" first="Donato" last="Calista">Donato Calista</name></author><author><name sortKey="Albright, Lisa A Cannon" sort="Albright, Lisa A Cannon" uniqKey="Albright L" first="Lisa A Cannon" last="Albright">Lisa A Cannon Albright</name></author><author><name sortKey="Chaudru, Valerie" sort="Chaudru, Valerie" uniqKey="Chaudru V" first="Valerie" last="Chaudru">Valerie Chaudru</name></author><author><name sortKey="Chompret, Agnes" sort="Chompret, Agnes" uniqKey="Chompret A" first="Agnes" last="Chompret">Agnes Chompret</name></author><author><name sortKey="Cuellar, Francisco" sort="Cuellar, Francisco" uniqKey="Cuellar F" first="Francisco" last="Cuellar">Francisco Cuellar</name></author><author><name sortKey="Elder, David E" sort="Elder, David E" uniqKey="Elder D" first="David E" last="Elder">David E. Elder</name></author><author><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name></author><author><name sortKey="Gillanders, Elizabeth M" sort="Gillanders, Elizabeth M" uniqKey="Gillanders E" first="Elizabeth M" last="Gillanders">Elizabeth M. Gillanders</name></author><author><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A" last="Gruis">Nelleke A. Gruis</name></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name></author><author><name sortKey="Hogg, David" sort="Hogg, David" uniqKey="Hogg D" first="David" last="Hogg">David Hogg</name></author><author><name sortKey="Holland, Elizabeth A" sort="Holland, Elizabeth A" uniqKey="Holland E" first="Elizabeth A" last="Holland">Elizabeth A. Holland</name></author><author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A" last="Kanetsky">Peter A. Kanetsky</name></author><author><name sortKey="Kefford, Richard F" sort="Kefford, Richard F" uniqKey="Kefford R" first="Richard F" last="Kefford">Richard F. Kefford</name></author><author><name sortKey="Landi, Maria Teresa" sort="Landi, Maria Teresa" uniqKey="Landi M" first="Maria Teresa" last="Landi">Maria Teresa Landi</name></author><author><name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name></author><author><name sortKey="Leachman, Sancy A" sort="Leachman, Sancy A" uniqKey="Leachman S" first="Sancy A" last="Leachman">Sancy A. Leachman</name></author><author><name sortKey="Mackie, Rona M" sort="Mackie, Rona M" uniqKey="Mackie R" first="Rona M" last="Mackie">Rona M. Mackie</name></author><author><name sortKey="Magnusson, Veronica" sort="Magnusson, Veronica" uniqKey="Magnusson V" first="Veronica" last="Magnusson">Veronica Magnusson</name></author><author><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name></author><author><name sortKey="Bishop, Julia Newton" sort="Bishop, Julia Newton" uniqKey="Bishop J" first="Julia Newton" last="Bishop">Julia Newton Bishop</name></author><author><name sortKey="Palmer, Jane M" sort="Palmer, Jane M" uniqKey="Palmer J" first="Jane M" last="Palmer">Jane M. Palmer</name></author><author><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name></author><author><name sortKey="Puig Utille, Joan A" sort="Puig Utille, Joan A" uniqKey="Puig Utille J" first="Joan A" last="Puig-Butille">Joan A. Puig-Butille</name></author><author><name sortKey="Stark, Mitchell" sort="Stark, Mitchell" uniqKey="Stark M" first="Mitchell" last="Stark">Mitchell Stark</name></author><author><name sortKey="Tsao, Hensin" sort="Tsao, Hensin" uniqKey="Tsao H" first="Hensin" last="Tsao">Hensin Tsao</name></author><author><name sortKey="Tucker, Margaret A" sort="Tucker, Margaret A" uniqKey="Tucker M" first="Margaret A" last="Tucker">Margaret A. Tucker</name></author><author><name sortKey="Whitaker, Linda" sort="Whitaker, Linda" uniqKey="Whitaker L" first="Linda" last="Whitaker">Linda Whitaker</name></author><author><name sortKey="Yakobson, Emanuel" sort="Yakobson, Emanuel" uniqKey="Yakobson E" first="Emanuel" last="Yakobson">Emanuel Yakobson</name></author><author><name sortKey="Group, The Lund Melanoma Study" sort="Group, The Lund Melanoma Study" uniqKey="Group T" first="The Lund Melanoma Study" last="Group">The Lund Melanoma Study Group</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">16905682</idno><idno type="pmc">2598064</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2598064</idno><idno type="RBID">PMC:2598064</idno><idno type="doi">10.1136/jmg.2006.043802</idno><date when="2006">2006</date><idno type="wicri:Area/Pmc/Corpus">001022</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001022</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma‐prone families from three continents</title><author><name sortKey="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M" last="Goldstein">Alisa M. Goldstein</name></author><author><name sortKey="Chan, May" sort="Chan, May" uniqKey="Chan M" first="May" last="Chan">May Chan</name></author><author><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name></author><author><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K" last="Hayward">Nicholas K. Hayward</name></author><author><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name></author><author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name></author><author><name sortKey="Azizi, Esther" sort="Azizi, Esther" uniqKey="Azizi E" first="Esther" last="Azizi">Esther Azizi</name></author><author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name></author><author><name sortKey="Bianchi Carra, Giovanna" sort="Bianchi Carra, Giovanna" uniqKey="Bianchi Carra G" first="Giovanna" last="Bianchi-Scarra">Giovanna Bianchi-Scarra</name></author><author><name sortKey="Bruno, William" sort="Bruno, William" uniqKey="Bruno W" first="William" last="Bruno">William Bruno</name></author><author><name sortKey="Calista, Donato" sort="Calista, Donato" uniqKey="Calista D" first="Donato" last="Calista">Donato Calista</name></author><author><name sortKey="Albright, Lisa A Cannon" sort="Albright, Lisa A Cannon" uniqKey="Albright L" first="Lisa A Cannon" last="Albright">Lisa A Cannon Albright</name></author><author><name sortKey="Chaudru, Valerie" sort="Chaudru, Valerie" uniqKey="Chaudru V" first="Valerie" last="Chaudru">Valerie Chaudru</name></author><author><name sortKey="Chompret, Agnes" sort="Chompret, Agnes" uniqKey="Chompret A" first="Agnes" last="Chompret">Agnes Chompret</name></author><author><name sortKey="Cuellar, Francisco" sort="Cuellar, Francisco" uniqKey="Cuellar F" first="Francisco" last="Cuellar">Francisco Cuellar</name></author><author><name sortKey="Elder, David E" sort="Elder, David E" uniqKey="Elder D" first="David E" last="Elder">David E. Elder</name></author><author><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name></author><author><name sortKey="Gillanders, Elizabeth M" sort="Gillanders, Elizabeth M" uniqKey="Gillanders E" first="Elizabeth M" last="Gillanders">Elizabeth M. Gillanders</name></author><author><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A" last="Gruis">Nelleke A. Gruis</name></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name></author><author><name sortKey="Hogg, David" sort="Hogg, David" uniqKey="Hogg D" first="David" last="Hogg">David Hogg</name></author><author><name sortKey="Holland, Elizabeth A" sort="Holland, Elizabeth A" uniqKey="Holland E" first="Elizabeth A" last="Holland">Elizabeth A. Holland</name></author><author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A" last="Kanetsky">Peter A. Kanetsky</name></author><author><name sortKey="Kefford, Richard F" sort="Kefford, Richard F" uniqKey="Kefford R" first="Richard F" last="Kefford">Richard F. Kefford</name></author><author><name sortKey="Landi, Maria Teresa" sort="Landi, Maria Teresa" uniqKey="Landi M" first="Maria Teresa" last="Landi">Maria Teresa Landi</name></author><author><name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name></author><author><name sortKey="Leachman, Sancy A" sort="Leachman, Sancy A" uniqKey="Leachman S" first="Sancy A" last="Leachman">Sancy A. Leachman</name></author><author><name sortKey="Mackie, Rona M" sort="Mackie, Rona M" uniqKey="Mackie R" first="Rona M" last="Mackie">Rona M. Mackie</name></author><author><name sortKey="Magnusson, Veronica" sort="Magnusson, Veronica" uniqKey="Magnusson V" first="Veronica" last="Magnusson">Veronica Magnusson</name></author><author><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name></author><author><name sortKey="Bishop, Julia Newton" sort="Bishop, Julia Newton" uniqKey="Bishop J" first="Julia Newton" last="Bishop">Julia Newton Bishop</name></author><author><name sortKey="Palmer, Jane M" sort="Palmer, Jane M" uniqKey="Palmer J" first="Jane M" last="Palmer">Jane M. Palmer</name></author><author><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name></author><author><name sortKey="Puig Utille, Joan A" sort="Puig Utille, Joan A" uniqKey="Puig Utille J" first="Joan A" last="Puig-Butille">Joan A. Puig-Butille</name></author><author><name sortKey="Stark, Mitchell" sort="Stark, Mitchell" uniqKey="Stark M" first="Mitchell" last="Stark">Mitchell Stark</name></author><author><name sortKey="Tsao, Hensin" sort="Tsao, Hensin" uniqKey="Tsao H" first="Hensin" last="Tsao">Hensin Tsao</name></author><author><name sortKey="Tucker, Margaret A" sort="Tucker, Margaret A" uniqKey="Tucker M" first="Margaret A" last="Tucker">Margaret A. Tucker</name></author><author><name sortKey="Whitaker, Linda" sort="Whitaker, Linda" uniqKey="Whitaker L" first="Linda" last="Whitaker">Linda Whitaker</name></author><author><name sortKey="Yakobson, Emanuel" sort="Yakobson, Emanuel" uniqKey="Yakobson E" first="Emanuel" last="Yakobson">Emanuel Yakobson</name></author><author><name sortKey="Group, The Lund Melanoma Study" sort="Group, The Lund Melanoma Study" uniqKey="Group T" first="The Lund Melanoma Study" last="Group">The Lund Melanoma Study Group</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer.</p></sec><sec><title>Methods</title><p>These four features were examined in 385 families with ⩾3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents.</p></sec><sec><title>Results</title><p>Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. Multivariate examination also showed different predictors of mutation risk across continents. In Australian families, ⩾2 patients with MPM, median age at melanoma diagnosis ⩽40 years and ⩾6 patients with melanoma in a family jointly predicted the mutation risk. In European families, all four factors concurrently predicted the risk, but with less stringent criteria than in Australia. In North American families, only ⩾1 patient with MPM and age at diagnosis ⩽40 years simultaneously predicted the mutation risk.</p></sec><sec><title>Conclusions</title><p>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.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">16905682</article-id><article-id pub-id-type="pmc">2598064</article-id><article-id pub-id-type="publisher-id">mg43802</article-id><article-id pub-id-type="doi">10.1136/jmg.2006.043802</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject></subj-group></article-categories><title-group><article-title>Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma‐prone families from three continents</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Goldstein</surname><given-names>Alisa M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chan</surname><given-names>May</given-names></name></contrib><contrib contrib-type="author"><name><surname>Harland</surname><given-names>Mark</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hayward</surname><given-names>Nicholas K</given-names></name></contrib><contrib contrib-type="author"><name><surname>Demenais</surname><given-names>Florence</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bishop</surname><given-names>D Timothy</given-names></name></contrib><contrib contrib-type="author"><name><surname>Azizi</surname><given-names>Esther</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bergman</surname><given-names>Wilma</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bianchi‐Scarra</surname><given-names>Giovanna</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bruno</surname><given-names>William</given-names></name></contrib><contrib contrib-type="author"><name><surname>Calista</surname><given-names>Donato</given-names></name></contrib><contrib contrib-type="author"><name><surname>Albright</surname><given-names>Lisa A Cannon</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chaudru</surname><given-names>Valerie</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chompret</surname><given-names>Agnes</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cuellar</surname><given-names>Francisco</given-names></name></contrib><contrib contrib-type="author"><name><surname>Elder</surname><given-names>David E</given-names></name></contrib><contrib contrib-type="author"><name><surname>Ghiorzo</surname><given-names>Paola</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gillanders</surname><given-names>Elizabeth M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gruis</surname><given-names>Nelleke A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hansson</surname><given-names>Johan</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hogg</surname><given-names>David</given-names></name></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Elizabeth A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kanetsky</surname><given-names>Peter A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kefford</surname><given-names>Richard F</given-names></name></contrib><contrib contrib-type="author"><name><surname>Landi</surname><given-names>Maria Teresa</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lang</surname><given-names>Julie</given-names></name></contrib><contrib contrib-type="author"><name><surname>Leachman</surname><given-names>Sancy A</given-names></name></contrib><contrib contrib-type="author"><name><surname>MacKie</surname><given-names>Rona M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Magnusson</surname><given-names>Veronica</given-names></name></contrib><contrib contrib-type="author"><name><surname>Mann</surname><given-names>Graham J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bishop</surname><given-names>Julia Newton</given-names></name></contrib><contrib contrib-type="author"><name><surname>Palmer</surname><given-names>Jane M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Puig</surname><given-names>Susana</given-names></name></contrib><contrib contrib-type="author"><name><surname>Puig‐Butille</surname><given-names>Joan A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Stark</surname><given-names>Mitchell</given-names></name></contrib><contrib contrib-type="author"><name><surname>Tsao</surname><given-names>Hensin</given-names></name></contrib><contrib contrib-type="author"><name><surname>Tucker</surname><given-names>Margaret A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Whitaker</surname><given-names>Linda</given-names></name></contrib><contrib contrib-type="author"><name><surname>Yakobson</surname><given-names>Emanuel</given-names></name></contrib><contrib contrib-type="author"><name><surname>Group</surname><given-names>The Lund Melanoma Study</given-names></name></contrib><on-behalf-of>and the Melanoma Genetics Consortium (GenoMEL)</on-behalf-of></contrib-group><aff><bold>Alisa M Goldstein</bold>,<bold>Maria Teresa Landi</bold>,<bold>Margaret A Tucker</bold>, Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA</aff><aff><bold>May Chan</bold>,<bold>Mark Harland</bold>,<bold>D Timothy Bishop</bold>,<bold>Julia Newton Bishop</bold>,<bold>Linda Whitaker</bold>, Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, UK</aff><aff><bold>Nicholas K Hayward</bold>,<bold>Jane M Palmer</bold>,<bold>Mitchell Stark</bold>, Queensland Institute of Medical Research, Brisbane, Queensland, Australia</aff><aff><bold>Florence Demenais</bold>,<bold>Valerie Chaudru</bold>, INSERM, U794, Université d'Evry, Evry, France</aff><aff><bold>Esther Azizi</bold>, Department of Dermatology, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel</aff><aff><bold>Wilma Bergman</bold>,<bold>Nelleke A Gruis</bold>, Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands</aff><aff><bold>Giovanna Bianchi‐Scarra</bold>,<bold>William Bruno</bold>,<bold>Paola Ghiorzo</bold>, Department of Oncology, Biology, and Genetics, University of Genova, Genova, Italy</aff><aff><bold>Donato Calista</bold>, Dermatology Unit, Maurizio Bufalini Hospital, Cesena, Italy</aff><aff><bold>Lisa A Cannon Albright</bold>, Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA</aff><aff><bold>Agnes Chompret</bold>, Service de Génétique, Institut Gustave Roussy, Villejuif, France</aff><aff><bold>Francisco Cuellar</bold>,<bold>Susana Puig</bold>, Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS (Institut de Investigació Biomèdica August Pi Suñe), Barcelona, Spain</aff><aff><bold>David E Elder</bold>, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff><aff><bold>Elizabeth M Gillanders</bold>, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, DHHS, Baltimore, Maryland, USA</aff><aff><bold>Johan Hansson</bold>,<bold>Veronica Magnusson</bold>, Department of Oncology‐Pathology, Karolinska Institute and Karolinska University Hospital Solna, Stockholm, Sweden</aff><aff><bold>David Hogg</bold>, Departments of Medicine and Medical Biophysics, University of Toronto, Toronto, Ontaria, Canada</aff><aff><bold>Elizabeth A Holland</bold>,<bold>Richard F Kefford</bold>,<bold>Graham J Mann</bold>, Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney, New South Wales, Australia</aff><aff><bold>Peter A Kanetsky</bold>, Department of Biostatistics and Epidemiology and Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff><aff><bold>Julie Lang</bold>,<bold>Rona M MacKie</bold>, Department of Medical Genetics, University of Glasgow, Glasgow, UK</aff><aff><bold>Sancy A Leachman</bold>, Department of Dermatology and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA</aff><aff><bold>Joan A Puig‐Butille</bold>, Genetics Service, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS (Institut de Investigació Biomèdica August Pi Suñe), Barcelona, Spain</aff><aff><bold>Hensin Tsao</bold>, Wellman Center for Photomedicine, Department of Dermatology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts, USA</aff><aff><bold>Emanuel Yakobson</bold>, Molecular Cell Biology Laboratory, Department of Internal Medicine C, Sheba Medical Center, Sackler Faculty of Medicine, Tel‐Aviv University, Tel‐Aviv, Israel</aff><aff><bold>The Lund Melanoma Study Group</bold>, Lund Cancer Center Department of Oncology, University Hospital, Lund, Sweden</aff><author-notes><corresp>Correspondence to: Dr A M Goldstein<break></break>Genetic Epidemiology Branch/NCI/NIH/DHHS, Executive Plaza South, Room 7004, 6120 Executive Blvd. MSC 7236, Bethesda, MD 20892‐7236, USA; goldstea@exchange.nih.gov</corresp></author-notes><pub-date pub-type="ppub"><month>2</month><year>2007</year></pub-date><pub-date pub-type="epub"><day>11</day><month>8</month><year>2006</year></pub-date><volume>44</volume><issue>2</issue><fpage>99</fpage><lpage>106</lpage><history><date date-type="received"><day>10</day><month>5</month><year>2006</year></date><date date-type="rev-recd"><day>10</day><month>7</month><year>2006</year></date><date date-type="accepted"><day>12</day><month>7</month><year>2006</year></date></history><permissions><copyright-statement>Copyright © 2007 BMJ Publishing Group Ltd</copyright-statement></permissions><abstract><sec><title>Background</title><p>The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer.</p></sec><sec><title>Methods</title><p>These four features were examined in 385 families with ⩾3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents.</p></sec><sec><title>Results</title><p>Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. Multivariate examination also showed different predictors of mutation risk across continents. In Australian families, ⩾2 patients with MPM, median age at melanoma diagnosis ⩽40 years and ⩾6 patients with melanoma in a family jointly predicted the mutation risk. In European families, all four factors concurrently predicted the risk, but with less stringent criteria than in Australia. In North American families, only ⩾1 patient with MPM and age at diagnosis ⩽40 years simultaneously predicted the mutation risk.</p></sec><sec><title>Conclusions</title><p>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.</p></sec></abstract><kwd-group><kwd>melanoma</kwd><kwd>CDKN2A
</kwd><kwd>multiple primary melanomas</kwd><kwd>pancreatic cancer</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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