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黑色素瘤基因检测、咨询以及对皮肤癌预防和检测行为的依从性。

Melanoma genetic testing, counseling, and adherence to skin cancer prevention and detection behaviors.

机构信息

Perelman School of Medicine and School of Nursing, University of Pennsylvania, 801 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104, USA.

出版信息

Cancer Epidemiol Biomarkers Prev. 2013 Apr;22(4):607-14. doi: 10.1158/1055-9965.EPI-12-1174. Epub 2013 Feb 7.

Abstract

BACKGROUND

Little is known about the impact of knowledge of CDKN2A and MC1R genotype on melanoma prevention behaviors like sun avoidance and skin examination in the context of familial melanoma.

METHODS

Seventy-three adults with a family history of melanoma were randomly assigned to be offered individualized CDKN2A and MC1R genotyping results in the context of a genetic counseling session, or the standard practice of not being offered counseling or disclosure of genotyping results. Mixed effects or longitudinal logistic models were used to determine whether the intervention affected change in sun protection habits, skin examinations, and perception and beliefs related to melanoma risk, prevention, and genetic counseling.

RESULTS

All participants in the intervention group who attended genetic counseling sessions chose to receive their test results. From baseline to follow-up, participants in the intervention group reported an increase in the frequency of skin self-examinations compared with a slight decrease in the control group (P = 0.002). Participants in the intervention group reported a smaller decrease in frequency of wearing a shirt with long sleeves than did participants in the control group (P = 0.047). No effect of the intervention was noted for other outcomes.

CONCLUSIONS

Feedback of CDKN2A and MC1R genotype among families without known pathogenic CDKN2A mutations does not seem to decrease sun protection behaviors.

IMPACT

While disclosure of CDKN2A and MC1R genotype did not have negative effects on prevention, the benefits of communicating this information remain unclear. The small number of families who tested positive for CDKN2A mutations in this study is a limitation.

摘要

背景

在家族性黑色素瘤的背景下,人们对 CDKN2A 和 MC1R 基因型知识对避免阳光照射和皮肤检查等黑色素瘤预防行为的影响知之甚少。

方法

73 名有家族性黑色素瘤病史的成年人被随机分配,在遗传咨询过程中接受 CDKN2A 和 MC1R 基因型的个体检测结果,或接受标准的不提供咨询或不披露基因型结果的做法。采用混合效应或纵向逻辑回归模型来确定该干预措施是否影响了防晒习惯、皮肤检查以及与黑色素瘤风险、预防和遗传咨询相关的认知和信念的变化。

结果

所有参加干预组遗传咨询会议的参与者都选择了接受他们的检测结果。与对照组相比,从基线到随访,干预组参与者报告皮肤自我检查的频率有所增加(P = 0.002)。与对照组相比,干预组参与者报告长袖衬衫穿着频率的下降幅度较小(P = 0.047)。干预组在其他结果上没有效果。

结论

在没有已知致病性 CDKN2A 突变的家族中反馈 CDKN2A 和 MC1R 基因型似乎不会减少防晒行为。

影响

虽然披露 CDKN2A 和 MC1R 基因型对预防没有负面影响,但沟通这些信息的好处仍不清楚。在这项研究中,检测出 CDKN2A 突变的家族数量较少是一个限制。

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