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在青春期或成年早期得知父母的BRCA基因突变:一项关于后代经历的研究。

Learning of your parent's BRCA mutation during adolescence or early adulthood: a study of offspring experiences.

作者信息

Bradbury Angela R, Patrick-Miller Linda, Pawlowski Kimberly, Ibe Comfort N, Cummings Shelly A, Hlubocky Fay, Olopade Olufunmilayo I, Daugherty Christopher K

机构信息

The Margaret Dyson Family Risk Assessment Program, Fox Chase Cancer Center, PA 19066, USA.

出版信息

Psychooncology. 2009 Feb;18(2):200-8. doi: 10.1002/pon.1384.

Abstract

OBJECTIVE

To examine the experience, comprehension and perceptions of learning of a parent's BRCA mutation during adolescence and early adulthood, and explore the impact on offspring's physical and psychosocial well-being.

METHODS

Semi-structured interviews were completed with 22 adult offspring who learned of their parent's BRCA mutation prior to age 25 years. Data were summarized using qualitative methods and response proportions.

RESULTS

Offspring reports of the content shared varied; discussion of cancer risks and offspring genetic testing were described more frequently than risk modification strategies. The majority of offspring reported a good understanding of the information shared and no negative aspects for learning this information. Some offspring reported changing their health behaviors after learning of the familial mutation; many tobacco users stopped smoking. Offspring interest in genetic counseling surrounding parent disclosure and genetic testing during adulthood were high.

CONCLUSIONS

Some offspring understand and respond adaptively to early communication of a genetic risk for cancer, and disclosure may foster improved health behaviors during adolescence and young adulthood. Further research is necessary to evaluate how offspring conceptualize and utilize genetic risk and to identify the biopsychosocial factors predictive of adaptive/maladaptive responses to early disclosure of hereditary risk for adult cancer.

摘要

目的

探讨青少年及成年早期子女知晓父母携带BRCA突变后的经历、理解程度和学习认知情况,并探究其对子女身心健康的影响。

方法

对22名在25岁之前知晓父母携带BRCA突变的成年子女进行了半结构化访谈。采用定性方法和应答比例对数据进行总结。

结果

子女报告的所分享内容各不相同;与癌症风险和子女基因检测相关的讨论比风险修正策略的讨论更为频繁。大多数子女表示对所分享的信息理解良好,且认为了解这些信息并无负面影响。一些子女报告称在得知家族突变后改变了健康行为;许多吸烟者戒烟。成年期子女对围绕父母披露信息和基因检测的遗传咨询兴趣浓厚。

结论

一些子女能够理解并适应性地应对早期传达的癌症遗传风险,信息披露可能有助于在青少年期和成年早期改善健康行为。有必要进一步开展研究,以评估子女如何理解和利用遗传风险,并确定预测对成人癌症遗传风险早期披露的适应性/适应不良反应的生物心理社会因素。

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