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



This study investigated whether genetic counseling and test reporting for the highly penetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure.


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).


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.


These findings support the clinical utility of disclosing CDKN2A test results and providing risk management education to high-risk individuals.

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This research was supported by the National Cancer Institute of the National Institutes of Health (R01 CA158322). Support was also received from the National Center for Research Resources and the National Center for Advancing Translational Sciences, National Institutes of Health, through grant 8UL1TR000105 (formerly UL1RR025764). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Cancer Institute or the National Institutes of Health. This research was also supported by the Huntsman Cancer Foundation (HCF); the Tom C. Mathews, Jr. Familial Melanoma Research Clinic endowment; the Pedigree and Population Resource of Huntsman Cancer Institute; and the Utah Population Database. This study also utilized the Utah Cancer Registry, which is funded by contract N01-PC-35141 from the National Cancer Institute Surveillance, Epidemiology, and End Results (SEER) Program, with additional support from the Utah State Department of Health and the University of Utah. The authors acknowledge the use of the Genetic Counseling and Health Measurement and Survey Methods core facilities supported by the National Institutes of Health through National Cancer Institute Cancer Center Support grant 5P30CA420-14 awarded to the Huntsman Cancer Institute and additional support from the HCF. Partial salary support was also provided by Knight Cancer Institute and Oregon Health & Science University (S.A.L., P.B.C., and T.P.). T.K.S. acknowledges salary support by NIH/NCI training grant T32 CA193193 during the preparation of this manuscript. The authors additionally acknowledge the generous participation of all study participants who made this project possible. We thank also all members of the BRIGHT study staff for their contributions to the conduct or analysis of the study.

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Correspondence to Tammy K. Stump PhD.

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S.A.L. previously received an honorarium for her service on a Medical and Scientific Advisory Board for Myriad Genetics Laboratory and Castle Biosciences, Inc. She also collaborated with Myriad to test assays as part of an early access program that is unrelated to the present study. W.K. received a research grant from Myriad Genetics Laboratory to study the psychological and family communication outcomes of multigene panel testing. That project is unrelated to the present study. M.C. has served as a consultant for Invitae, a for-profit genetic information company, which is also unrelated to the study. The other authors declare no conflicts of interest.

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