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Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/295764
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- Title
- Selection criteria for genetic assessment of patients with familial melanoma
- Related
- Journal of the American Academy of Dermatology, Vol. 61, No. 4, (2009), p.677.e1-677.e14
- DOI
- 10.1016/j.jaad.2009.03.016
- Publisher
- Mosby
- Date
- 2009
- Author/Creator
- Leachman, Sancy A
- Author/Creator
- Carucci, John
- Author/Creator
- Curiel-Lewandrowski, Clara
- Author/Creator
- de Snoo, Femke A
- Author/Creator
- Debniak, Tadeusz
- Author/Creator
- Demierre, Marie-France
- Author/Creator
- Elder, David
- Author/Creator
- Goldstein, Alisa M
- Author/Creator
- Grant-Kels, Jane
- Author/Creator
- Halpern, Allan C
- Author/Creator
- Ingvar, Christian
- Author/Creator
- Kefford, Richard F
- Author/Creator
- Kohlmann, Wendy
- Author/Creator
- Lang, Julie
- Author/Creator
- MacKie, Rona M
- Author/Creator
- Mann, Graham J
- Author/Creator
- Mueller, Kurt
- Author/Creator
- Newton-Bishop, Julia
- Author/Creator
- Olsson, Hakan
- Author/Creator
- Petersen, Gloria M
- Author/Creator
- Puig, Susana
- Author/Creator
- Rigel, Darrell
- Author/Creator
- Swetter, Susan M
- Author/Creator
- Banks, Kimberly C
- Author/Creator
- Tucker, Margaret A
- Author/Creator
- Yakobson, Emanuel
- Author/Creator
- Zitelli, John A
- Author/Creator
- Tsao, Hensin
- Author/Creator
- Asgari, Maryam M
- Author/Creator
- Bergman, Wilma
- Author/Creator
- Bianchi-Scarra, Giovanna
- Author/Creator
- Brentnall, Teresa
- Author/Creator
- Bressac-de Paillerets, Brigitte
- Author/Creator
- Bruno, William
- Description
- Approximately 5% to 10% of melanoma may be hereditary in nature, and about 2% of melanoma can be specifically attributed to pathogenic germline mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A). To appropriately identify the small proportion of patients who benefit most from referral to a genetics specialist for consideration of genetic testing for CDKN2A, we have reviewed available published studies of CDKN2A mutation analysis in cohorts with invasive, cutaneous melanoma and found variability in the rate of CDKN2A mutations based on geography, ethnicity, and the type of study and eligibility criteria used. Except in regions of high melanoma incidence, such as Australia, we found higher rates of CDKN2A positivity in individuals with 3 or more primary invasive melanomas and/or families with at least one invasive melanoma and two or more other diagnoses of invasive melanoma and/or pancreatic cancer among first- or second-degree relatives on the same side of the family. The work summarized in this review should help identify individuals who are appropriate candidates for referral for genetic consultation and possible testing.
- Description
- 14 page(s)
- Subject Keyword
- 110300 Clinical Sciences
- Subject Keyword
- CDKN2A
- Subject Keyword
- familial
- Subject Keyword
- genetic counseling
- Subject Keyword
- genetic testing
- Subject Keyword
- hereditary
- Subject Keyword
- melanoma
- Subject Keyword
- p16
- Resource Type
- journal article
- Organisation
- Macquarie University. Australian School of Advanced Medicine
- Identifier
- http://hdl.handle.net/1959.14/295764
- Identifier
- mq:31942
- Identifier
- ISSN:0190-9622
- Identifier
- mq-rm-2013003542
- Identifier
- mq_res-ext-2-s2.0-70249098475
- Language
- eng
- Reviewed
Macquarie University ResearchOnline
