Search: (WFRF:(Albright Lisa A Cannon)) >
Germline Variation ...
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families
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- Taylor, Nicholas J. (author)
- Texas A and M University
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- Mitra, Nandita (author)
- University of Pennsylvania
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- Goldstein, Alisa M. (author)
- National Cancer Institute, USA
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- Tucker, Margaret A. (author)
- National Cancer Institute, USA
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- Avril, Marie Françoise (author)
- Cochin Hospital,Paris Descartes University
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- Azizi, Esther (author)
- Tel-Aviv University
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- Bergman, Wilma (author)
- Leiden University Medical Centre
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- Bishop, D. Timothy (author)
- St James's University Hospital,University of Leeds
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- Bressac-de Paillerets, Brigitte (author)
- University of Paris-Saclay
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- Bruno, William (author)
- University of Genoa,Ospedale Policlinico San Martino
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- Calista, Donato (author)
- Maurizio Bufalini Hospital
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- Cannon-Albright, Lisa A. (author)
- University of Utah
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- Cuellar, Francisco (author)
- Hospital Clínic of Barcelona,Biomedical Network on Rare Diseases (CIBERER)
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- Cust, Anne E. (author)
- University of Sydney,Melanoma Institute Australia
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- Demenais, Florence (author)
- Paris Diderot University
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- Elder, David E. (author)
- University of Pennsylvania
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- Gerdes, Anne Marie (author)
- Copenhagen University Hospital
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- Ghiorzo, Paola (author)
- St James's University Hospital,University of Leeds
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- Grazziotin, Thais C. (author)
- Federal University of Health Sciences of Porto Alegre
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- Hansson, Johan (author)
- Karolinska Institutet,Karolinska Institute
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- Harland, Mark (author)
- St James's University Hospital,University of Leeds
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- Hayward, Nicholas K. (author)
- QIMR Berghofer Medical Research Institute
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- Hocevar, Marko (author)
- Institute of Oncology, Ljubljana
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- Höiom, Veronica (author)
- Karolinska Institutet,Karolinska Institute
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- Ingvar, Christian (author)
- Lund University,Lunds universitet,Lunds Melanomstudiegrupp,Forskargrupper vid Lunds universitet,Lund Melanoma Study Group,Lund University Research Groups
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- Landi, Maria Teresa (author)
- National Cancer Institute, USA
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- Landman, Gilles (author)
- Federal University of São Paulo
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- Larre-Borges, Alejandra (author)
- University of the Republic
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- Leachman, Sancy A. (author)
- Oregon Health & Science University
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- Mann, Graham J. (author)
- Melanoma Institute Australia,University of Sydney
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- Nagore, Eduardo (author)
- Instituto Valenciano de Oncologia
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- Olsson, Håkan (author)
- Lund University,Lunds universitet,Lunds Melanomstudiegrupp,Forskargrupper vid Lunds universitet,Lund Melanoma Study Group,Lund University Research Groups
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- Palmer, Jane M. (author)
- QIMR Berghofer Medical Research Institute
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- Perić, Barbara (author)
- Institute of Oncology, Ljubljana
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- Pjanova, Dace (author)
- Latvian Biomedical Research and Study Centre
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- Pritchard, Antonia (author)
- QIMR Berghofer Medical Research Institute
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- Puig, Susana (author)
- Biomedical Network on Rare Diseases (CIBERER),Hospital Clínic of Barcelona
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- van der Stoep, Nienke (author)
- Leiden University Medical Centre
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- Wadt, Karin A.W. (author)
- Copenhagen University Hospital
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- Whitaker, Linda (author)
- St James's University Hospital,University of Leeds
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- Yang, Xiaohong R. (author)
- National Cancer Institute, USA
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- Newton Bishop, Julia A. (author)
- St James's University Hospital,University of Leeds
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- Gruis, Nelleke A. (author)
- Leiden University Medical Centre
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- Kanetsky, Peter A. (author)
- H. Lee Moffitt Cancer Center & Research Institute
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(creator_code:org_t)
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- Elsevier BV, 2017
- 2017
- English 7 s.
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In: Journal of Investigative Dermatology. - : Elsevier BV. - 0022-202X .- 1523-1747. ; 137:12, s. 2606-2612
- Related links:
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http://dx.doi.org/10...
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http://www.jidonline...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Subject headings
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- Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18–2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92–1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94–1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75–4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Dermatologi och venereologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Dermatology and Venereal Diseases (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Taylor, Nicholas ...
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Mitra, Nandita
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Goldstein, Alisa ...
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Tucker, Margaret ...
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Avril, Marie Fra ...
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Azizi, Esther
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show more...
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Bergman, Wilma
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Bishop, D. Timot ...
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Bressac-de Paill ...
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Bruno, William
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Calista, Donato
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Cannon-Albright, ...
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Cuellar, Francis ...
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Cust, Anne E.
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Demenais, Floren ...
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Elder, David E.
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Gerdes, Anne Mar ...
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Ghiorzo, Paola
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Grazziotin, Thai ...
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Hansson, Johan
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Harland, Mark
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Hayward, Nichola ...
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Hocevar, Marko
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Höiom, Veronica
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Ingvar, Christia ...
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Landi, Maria Ter ...
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Landman, Gilles
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Larre-Borges, Al ...
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Leachman, Sancy ...
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Mann, Graham J.
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Nagore, Eduardo
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Olsson, Håkan
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Palmer, Jane M.
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Perić, Barbara
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Pjanova, Dace
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Pritchard, Anton ...
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Puig, Susana
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van der Stoep, N ...
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Wadt, Karin A.W.
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Whitaker, Linda
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Yang, Xiaohong R ...
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Newton Bishop, J ...
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Gruis, Nelleke A ...
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Kanetsky, Peter ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Dermatology and ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Journal of Inves ...
- By the university
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Lund University
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Karolinska Institutet