Selection criteria for genetic assessment of patients with familial melanoma Review uri icon

Overview

MeSH Major

  • Genetic Counseling
  • Genetic Testing
  • Melanoma
  • Patient Selection
  • Skin Neoplasms

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.

authors

publication date

  • October 2009

Research

keywords

  • Review

Identity

Language

  • eng

PubMed Central ID

  • PMC3307795

Digital Object Identifier (DOI)

  • 10.1016/j.jaad.2009.03.016

PubMed ID

  • 19751883

Additional Document Info

start page

  • 677.e1

end page

  • 14

volume

  • 61

number

  • 4