CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later.
CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later.
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CDKN2A 检测和遗传咨询可促进一年后客观测量的阳光照射量的减少。
DOI：
10.1038/s41436-019-0608-9
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
Leachman,SancyA
中科院分区：
文献类型：
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作者：
Stump,TammyK;Aspinwall,LisaG;Drummond,DanielleM;Taber,JenniferM;Kohlmann,Wendy;Champine,Marjan;Cassidy,PamelaB;Petrie,Tracy;Liley,Ben;Leachman,SancyA
目的本研究调查是否遗传咨询和高转移性CDKN 2黑色素瘤易感基因的检测报告促进减少阳光照射。方法一个前瞻性，非等效对照组设计比较未受影响的参与者（N= 128，法师= 35.24，52%男性）来自（1）已知携带CDKN 2 A致病性变体的家庭，接受过关于管理缺陷和阳性或阴性基因检测结果的咨询的患者和（2）已知不携带CDKN 2A致病性变体的未检测对照家庭，根据他们相似的家族史接受了同等的咨询。每日紫外线辐射（UVR）暴露量（J/m2）、皮肤色素沉着的变化比较了携带者（n= 32）、非携带者（n= 46）和无测试对照组（n= 50）在咨询后一年和基线之间的黑色素指数（黑色素指数）和晒伤情况。结果携带者和无测试对照组的每日UVR剂量在一年后均有所下降（B=-0.52，-0.33，p < 0.01）。一年后，只有携带者的手腕皮肤色素沉着显著减少（B=-0.11，p < 0.001），携带者和非测试对照参与者报告的晒伤比非携带者少（p< 0.05）。任何组的面部色素沉着均未发生变化。Noncarriers没有改变任何措施的UVR exposure.ConclusionsThese研究结果支持的临床实用程序的observingCDKN 2A测试结果，并提供风险管理教育的高风险个人。
PurposeThis study investigated whether genetic counseling and test reporting for the highly penetrantCDKN2Amelanoma predisposition gene promoted decreases in sun exposure.MethodsA prospective, nonequivalent control group design compared unaffected participants (N= 128,Mage= 35.24, 52% men) from (1) families known to carry aCDKN2Apathogenic variant, who received counseling about management recommendationsanda positive or negative genetic test result and (2) no-test control families known not to carry aCDKN2Apathogenic 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).ResultsBoth 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.ConclusionsThese findings support the clinical utility of disclosingCDKN2Atest results and providing risk management education to high-risk individuals.