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非裔美国人遗传性乳腺癌风险的基因检测

Genetic testing for inherited breast cancer risk in African Americans.

作者信息

Halbert Chanita Hughes, Kessler Lisa Jay, Mitchell Edith

机构信息

Abramson Cancer Center and Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

出版信息

Cancer Invest. 2005;23(4):285-95. doi: 10.1081/cnv-58819.

Abstract

As genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations is increasingly integrated into the clinical management of high-risk women, it will be important to understand barriers and motivations for genetic counseling among women from underserved minority groups to ensure equitable access to these services. Therefore, the purpose of this review was to synthesize literature on knowledge and attitudes about genetic counseling and testing for inherited breast cancer risk in African Americans. We also review studies that evaluated genetic testing intentions in this population. We conducted a search of the PubMed database to identify studies related to BRCA1/2 testing in African Americans that were published between 1995 and 2003. Overall, studies have evaluated ethnic differences in knowledge and attitudes about genetic testing or have compared African American and Caucasian women in terms of genetic testing intentions. These studies have shown that knowledge about breast cancer genetics and exposure to information about the availability of testing is low among African Americans, whereas expectations about the benefits of genetic testing are endorsed highly. However, much less is known about the psychological and behavioral impact of genetic testing for BRCA1/2 mutations in African Americans. Additional research is needed to understand barriers and motivations for participating in genetic testing for inherited cancer risk in African Americans. The lack of studies on psychological functioning, cancer surveillance, and preventive behaviors following testing is a significant void; however, for these studies to be conducted, greater access to genetic counseling and testing in African Americans will be needed.

摘要

随着针对BRCA1和BRCA2(BRCA1/2)突变的基因检测越来越多地融入高危女性的临床管理中,了解来自服务不足的少数群体的女性在接受遗传咨询时所面临的障碍和动机,对于确保公平获得这些服务至关重要。因此,本综述的目的是综合有关非裔美国人对遗传性乳腺癌风险的遗传咨询和检测的知识及态度的文献。我们还回顾了评估该人群基因检测意向的研究。我们在PubMed数据库中进行了检索,以识别1995年至2003年间发表的与非裔美国人BRCA1/2检测相关的研究。总体而言,已有研究评估了在基因检测知识和态度方面的种族差异,或者比较了非裔美国女性和白人女性的基因检测意向。这些研究表明,非裔美国人对乳腺癌遗传学的知识以及对检测可及性信息的了解程度较低,而对基因检测益处的期望却很高。然而,对于非裔美国人进行BRCA1/2突变基因检测的心理和行为影响,我们所知甚少。需要进行更多研究来了解非裔美国人参与遗传性癌症风险基因检测的障碍和动机。缺乏关于检测后心理功能、癌症监测和预防行为的研究是一个重大空白;然而,要开展这些研究,需要让更多非裔美国人能够获得遗传咨询和检测服务。

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