Format

Send to

Choose Destination
Genet Med. 2019 Aug 2. doi: 10.1038/s41436-019-0608-9. [Epub ahead of print]

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

Author information

1
Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. tammy.stump@northwestern.edu.
2
Department of Psychology, University of Utah, Salt Lake City, UT, USA.
3
Department of Psychology, Kent State University, Kent, OH, USA.
4
Huntsman Cancer Institute at the University of Utah, Salt Lake City, UT, USA.
5
Oregon Health and Science University, Portland, OR, USA.
6
National Institute of Water & Atmospheric Research, Lauder, New Zealand.

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.

KEYWORDS:

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

PMID:
31371819
DOI:
10.1038/s41436-019-0608-9

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center