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

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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