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

Genetics in Medicine(2019)

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摘要
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, M age = 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/m 2 ), 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.
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关键词
familial melanoma,CDKN2A/p16,genetic counseling and testing,sun protection,sunburns
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