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1,103 名高危女性的 BRCA 结果和家族检测的沟通。

Communication of BRCA results and family testing in 1,103 high-risk women.

机构信息

Robert WoodJohnson Medical School, Piscataway, New Jersey, USA.

出版信息

Cancer Epidemiol Biomarkers Prev. 2010 Sep;19(9):2211-9. doi: 10.1158/1055-9965.EPI-10-0325. Epub 2010 Aug 10.

DOI:10.1158/1055-9965.EPI-10-0325
PMID:20699375
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3207738/
Abstract

BACKGROUND

Genetic testing for hereditary cancer risk has implications for individuals and families. This study of women at risk of hereditary breast and ovarian cancer examines communication of BRCA results and subsequent genetic testing in the family.

METHODS

We surveyed 1,103 female BRCA testers at two hospitals, querying for communication of results and testing in relatives.

RESULTS

Ninety-seven percent of participants communicated BRCA results with at least one relative. Communication was negatively associated with older age [odds ratio (OR), 0.66 per decade; 95% confidence interval, (95% CI), 0.4-0.9], Asian race (OR, 0.18; 95% CI, 0.06-0.5), and testing at the public hospital versus the cancer center (OR, 0.19; 95% CI, 0.07-0.5). Communication was positively associated with increased knowledge of hereditary breast and ovarian cancer screening and risk reduction recommendations (OR, 1.9; 95% CI, 1.1-3.4) and increased satisfaction with the decision to BRCA test (OR, 2.6; 95% CI, 1.6-4.0). Seventy-five percent of BRCA-positive participants reported that at least one relative pursued genetic testing. Family testing was negatively associated with Asian race (OR, 0.15; 95% CI, 0.02-0.8) and positively associated with increased socioeconomic status (OR, 1.4; 95% CI, 1.1-1.7) and increased satisfaction with decision (OR, 2.1; 95% CI, 1.1-4.1).

CONCLUSION

Despite high overall rates of communicating BRCA results, underserved and some minority women seem less likely to inform relatives of their BRCA status or have relatives test for a known family mutation. Satisfaction with the decision to BRCA test is positively associated with both outcomes.

IMPACT

This study identified several novel predictors of family communication and family genetic testing in a large population of high-risk women. This work can inform clinicians interested in improving family communication regarding cancer predisposition testing.

摘要

背景

遗传性癌症风险的基因检测对个人和家庭都有影响。本项针对遗传性乳腺癌和卵巢癌风险女性的研究,调查了 BRCA 检测结果的沟通情况,以及家族中随后的基因检测情况。

方法

我们对两家医院的 1103 名 BRCA 检测者进行了调查,询问了与亲属沟通结果和检测情况。

结果

97%的参与者至少与一位亲属沟通了 BRCA 检测结果。沟通情况与年龄较大呈负相关(比值比[OR],每十年降低 0.66;95%置信区间[95%CI],0.4-0.9),与亚洲种族呈负相关(OR,0.18;95%CI,0.06-0.5),与在公立医院而非癌症中心进行检测呈负相关(OR,0.19;95%CI,0.07-0.5)。沟通情况与对遗传性乳腺癌和卵巢癌筛查和风险降低建议的知识增加呈正相关(OR,1.9;95%CI,1.1-3.4),与对 BRCA 检测决策的满意度增加呈正相关(OR,2.6;95%CI,1.6-4.0)。75%的 BRCA 阳性参与者报告称,至少有一位亲属进行了基因检测。家族检测与亚洲种族呈负相关(OR,0.15;95%CI,0.02-0.8),与较高的社会经济地位呈正相关(OR,1.4;95%CI,1.1-1.7),与对决策的满意度增加呈正相关(OR,2.1;95%CI,1.1-4.1)。

结论

尽管总体上沟通 BRCA 检测结果的比例较高,但服务不足和一些少数族裔女性似乎不太可能告知亲属自己的 BRCA 状况,或让亲属检测已知的家族突变。对 BRCA 检测决策的满意度与这两个结果呈正相关。

影响

本项研究在一个高危女性的大人群中确定了一些与家族沟通和家族基因检测相关的新预测因素。这项工作可以为有兴趣改善癌症易感性检测家族沟通的临床医生提供信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c63/3207738/2689067be436/nihms311759f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c63/3207738/61b1b57cab4e/nihms311759f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c63/3207738/2689067be436/nihms311759f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c63/3207738/61b1b57cab4e/nihms311759f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c63/3207738/2689067be436/nihms311759f2.jpg

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