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 Cassidy, Tracy Petrie, Ben Liley, Sancy Leachman

Research output: Contribution to journalArticle

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)
JournalGenetics in Medicine
DOIs
StatePublished - Jan 1 2019

Fingerprint

Genetic Counseling
Solar System
Sunburn
Skin Pigmentation
Counseling
Melanins
Pigmentation
Risk Management
Wrist
Melanoma
Radiation
Education
Control Groups
Genes
Radiation Exposure

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later. / Stump, Tammy K.; Aspinwall, Lisa G.; Drummond, Danielle M.; Taber, Jennifer M.; Kohlmann, Wendy; Champine, Marjan; Cassidy, Pamela; Petrie, Tracy; Liley, Ben; Leachman, Sancy.

In: Genetics in Medicine, 01.01.2019.

Research output: Contribution to journalArticle

Stump, Tammy K. ; Aspinwall, Lisa G. ; Drummond, Danielle M. ; Taber, Jennifer M. ; Kohlmann, Wendy ; Champine, Marjan ; Cassidy, Pamela ; Petrie, Tracy ; Liley, Ben ; Leachman, Sancy. / CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later. In: Genetics in Medicine. 2019.
@article{2e1a323b5d6f466b9e7f08384c184b50,
title = "CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later",
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",
author = "Stump, {Tammy K.} and Aspinwall, {Lisa G.} and Drummond, {Danielle M.} and Taber, {Jennifer M.} and Wendy Kohlmann and Marjan Champine and Pamela Cassidy and Tracy Petrie and Ben Liley and Sancy Leachman",
year = "2019",
month = "1",
day = "1",
doi = "10.1038/s41436-019-0608-9",
language = "English (US)",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",

}

TY - JOUR

T1 - CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later

AU - Stump, Tammy K.

AU - Aspinwall, Lisa G.

AU - Drummond, Danielle M.

AU - Taber, Jennifer M.

AU - Kohlmann, Wendy

AU - Champine, Marjan

AU - Cassidy, Pamela

AU - Petrie, Tracy

AU - Liley, Ben

AU - Leachman, Sancy

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

KW - CDKN2A/p16

KW - familial melanoma

KW - genetic counseling and testing

KW - sun protection

KW - sunburns

UR - http://www.scopus.com/inward/record.url?scp=85070114239&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85070114239&partnerID=8YFLogxK

U2 - 10.1038/s41436-019-0608-9

DO - 10.1038/s41436-019-0608-9

M3 - Article

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

ER -