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Selection criteria for genetic assessment of patients with familial melanoma

Leachman, Sancy A.; Carucci, John; Kohlmann, Wendy; Banks, Kimberly C.; Asgari, Maryam M.; Bergman, Wilma; Bianchi-Scarra, Giovanna; Brentnall, Teresa; Bressac-de Paillerets, Brigitte and Bruno, William, et al. (2009) In Journal of American Academy of Dermatology 61(4). p.677-684
Abstract
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... (More)
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. (J Am Acad Dermatol 2009;61:677-84.) (Less)
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keywords
genetic testing, genetic counseling, CDKN2A, familial, hereditary, melanoma, p16
in
Journal of American Academy of Dermatology
volume
61
issue
4
pages
677 - 684
publisher
Elsevier
external identifiers
  • wos:000270258300015
  • scopus:70249098475
ISSN
0190-9622
DOI
10.1016/j.jaad.2009.03.016
language
English
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yes
id
06524336-ca99-43e6-b26f-e3628726362a (old id 1489545)
date added to LUP
2009-10-22 10:47:07
date last changed
2017-12-10 03:48:42
@article{06524336-ca99-43e6-b26f-e3628726362a,
  abstract     = {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. (J Am Acad Dermatol 2009;61:677-84.)},
  author       = {Leachman, Sancy A. and Carucci, John and Kohlmann, Wendy and Banks, Kimberly C. and Asgari, Maryam M. and Bergman, Wilma and Bianchi-Scarra, Giovanna and Brentnall, Teresa and Bressac-de Paillerets, Brigitte and Bruno, William and Curiel-Lewandrowski, Clara and de Snoo, Femke A. and Debniak, Tadeusz and Demierre, Marie-France and Elder, David and Goldstein, Alisa M. and Grant-Kels, Jane and Halpern, Allan C. and Ingvar, Christian and Kefford, Richard F. and Lang, Julie and MacKie, Rona M. and Mann, Graham J. and Mueller, Kurt and Newton-Bishop, Julia and Olsson, Håkan and Peterson, Gloria M. and Puig, Susana and Rigel, Darrell and Swetter, Susan M. and Tucker, Margaret A. and Yakobson, Emanuel and Zitelli, John A. and Tsao, Hensin},
  issn         = {0190-9622},
  keyword      = {genetic testing,genetic counseling,CDKN2A,familial,hereditary,melanoma,p16},
  language     = {eng},
  number       = {4},
  pages        = {677--684},
  publisher    = {Elsevier},
  series       = {Journal of American Academy of Dermatology},
  title        = {Selection criteria for genetic assessment of patients with familial melanoma},
  url          = {http://dx.doi.org/10.1016/j.jaad.2009.03.016},
  volume       = {61},
  year         = {2009},
}