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年轻乳腺癌女性的基因检测:基于网络的调查结果。

Genetic testing in young women with breast cancer: results from a Web-based survey.

机构信息

Department of Adult Oncology, Breast Oncology Center, Dana-Farber Cancer Institute, Harvard Medical School.

Department of Adult Oncology, Breast Oncology Center, Dana-Farber Cancer Institute, Harvard Medical School.

出版信息

Ann Oncol. 2010 Apr;21(4):741-747. doi: 10.1093/annonc/mdp355. Epub 2009 Aug 27.

Abstract

BACKGROUND

Young women with breast cancer have an increased risk for harboring a BRCA1 or BRCA2 mutation. Frequency of genetic testing and factors associated with testing have not been well described in this population.

PATIENTS AND METHODS

We evaluated the rate of genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an advocacy group for young women with breast cancer. Items regarding family history and genetic testing were included in a Web-based cross-sectional survey.

RESULTS

A total of 701 women were eligible based on a history of breast cancer diagnosed < or =40 years. Mean age at diagnosis was 32.9 years and mean age at survey 35.7 years. About 41% reported a first- or second-degree relative with breast or ovarian cancer. About 24% had undergone genetic testing, and 26% of those tested reported that a mutation was found. By multivariate logistic regression, likelihood of having undergone testing was higher in women who were younger at diagnosis, were more educated, had a first- or second-degree relative with breast or ovarian cancer, had a mastectomy rather than breast conservation, and considered themselves at high risk for a cancer-predisposing mutation.

CONCLUSION

Most women diagnosed with breast cancer < or =40 years do not undergo genetic testing.

摘要

背景

患有乳腺癌的年轻女性有携带 BRCA1 或 BRCA2 突变的风险增加。在该人群中,尚未充分描述基因检测的频率和与检测相关的因素。

患者和方法

我们评估了通过青年生存联盟(YSC)确定的年轻乳腺癌幸存者进行基因检测的比率,YSC 是一个为年轻乳腺癌女性提供支持的倡导团体。一项基于网络的横断面调查包括了家族史和基因检测相关项目。

结果

共有 701 名女性符合条件,她们的乳腺癌诊断年龄均≤40 岁。诊断时的平均年龄为 32.9 岁,调查时的平均年龄为 35.7 岁。约 41%的女性报告称有一级或二级亲属患有乳腺癌或卵巢癌。约 24%的女性接受了基因检测,其中 26%的检测结果发现了突变。通过多变量逻辑回归分析,诊断时年龄较小、受教育程度较高、有一级或二级亲属患有乳腺癌或卵巢癌、接受了乳房切除术而不是保乳术以及自认为有癌症易感突变高风险的女性,更有可能接受基因检测。

结论

大多数诊断为乳腺癌且年龄≤40 岁的女性未进行基因检测。

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