The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Selection criteria for genetic assessment of patients with familial melanoma

På svenska

Author

  • 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
  • Christian Ingvar
  • Richard F. Kefford
  • Julie Lang
  • Rona M. MacKie
  • Graham J. Mann
  • Kurt Mueller
  • Julia Newton-Bishop
  • Håkan Olsson
  • Gloria M. Peterson
  • Susana Puig
  • Darrell Rigel
  • Susan M. Swetter
  • Margaret A. Tucker
  • Emanuel Yakobson
  • John A. Zitelli
  • Hensin Tsao
Show all

Summary, in English

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.)

Publishing year

2009

Language

English

Pages

677-684

Publication/Series

Journal of American Academy of Dermatology

Volume

61

Issue

4

Document type

Journal article review

Publisher

Elsevier

Topic

  • Dermatology and Venereal Diseases

Keywords

  • genetic testing
  • genetic counseling
  • CDKN2A
  • familial
  • hereditary
  • melanoma
  • p16

Status

Published

ISBN/ISSN/Other

  • ISSN: 0190-9622