Selection criteria for genetic assessment of patients with familial melanoma

Forskningsoutput: TidskriftsbidragÖversiktsartikel


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.)


  • Sancy A. Leachman
  • John Carucci
  • Wendy Kohlmann
  • Kimberly C. Banks
  • Maryam M. Asgari
  • Wilma Bergman
  • Giovanna Bianchi-Scarra
  • Teresa Brentnall
  • Brigitte Bressac-de Paillerets
  • William Bruno
  • Clara Curiel-Lewandrowski
  • Femke A. de Snoo
  • Tadeusz Debniak
  • Marie-France Demierre
  • David Elder
  • Alisa M. Goldstein
  • Jane Grant-Kels
  • Allan C. Halpern
  • Richard F. Kefford
  • Julie Lang
  • Rona M. MacKie
  • Graham J. Mann
  • Kurt Mueller
  • Julia Newton-Bishop
  • Gloria M. Peterson
  • Susana Puig
  • Darrell Rigel
  • Susan M. Swetter
  • Margaret A. Tucker
  • Emanuel Yakobson
  • John A. Zitelli
  • Hensin Tsao
Enheter & grupper

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Dermatologi och venereologi


Sidor (från-till)677-684
TidskriftJournal of American Academy of Dermatology
Utgåva nummer4
StatusPublished - 2009
Peer review utfördJa