CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later

Tammy K. Stump*, Lisa G. Aspinwall, Danielle M. Drummond, Jennifer M. Taber, Wendy Kohlmann, Marjan Champine, Pamela B. Cassidy, Tracy Petrie, Ben Liley, Sancy A. Leachman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: This study investigated whether genetic counseling and test reporting for the highly penetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure. Methods: A prospective, nonequivalent control group design compared unaffected participants (N = 128, Mage = 35.24, 52% men) from (1) families known to carry a CDKN2A pathogenic variant, who received counseling about management recommendations and a positive or negative genetic test result and (2) no-test control families known not to carry a CDKN2A pathogenic variant, who received equivalent counseling based on their comparable family history. Changes in daily ultraviolet radiation (UVR) exposure (J/m2), skin pigmentation (melanin index), and sunburns between baseline and one year following counseling were compared among carriers (n = 32), noncarriers (n = 46), and no-test control participants (n = 50). Results: Both carriers and no-test control participants exhibited a decrease one year later in daily UVR dose (B = −0.52, −0.33, p < 0.01). Only carriers exhibited a significant decrease in skin pigmentation at the wrist one year later (B = −0.11, p < 0.001), and both carriers and no-test control participants reported fewer sunburns than noncarriers (p < 0.05). Facial pigmentation did not change for any group. Noncarriers did not change on any measure of UVR exposure. Conclusions: These findings support the clinical utility of disclosing CDKN2A test results and providing risk management education to high-risk individuals.

Original languageEnglish (US)
Pages (from-to)26-34
Number of pages9
JournalGenetics in Medicine
Volume22
Issue number1
DOIs
StatePublished - Jan 1 2020

Keywords

  • CDKN2A/p16
  • familial melanoma
  • genetic counseling and testing
  • sun protection
  • sunburns

ASJC Scopus subject areas

  • Genetics(clinical)

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