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与乳腺癌和卵巢癌风险基因检测相关的心理社会问题:一项综合综述。

Psychosocial issues associated with genetic testing for breast and ovarian cancer risk: an integrative review.

作者信息

Pasacreta Jeannie V

机构信息

Yale University School of Nursing, New Haven, CT 06536, USA.

出版信息

Cancer Invest. 2003;21(4):588-623. doi: 10.1081/cnv-120022380.

DOI:10.1081/cnv-120022380
PMID:14533449
Abstract

The identification of the BRCA1/2 genes, and their possible etiologic relationship with various forms of inherited cancer, has been recognized universally as a cornerstone in the search for cancer's genetic link and has made it possible to identify specific individuals and families who harbor a mutation in one of these predisposition genes. Genetic testing for breast and ovarian cancer susceptibility may pose unanticipated psychological and social problems. Because of the recent availability of predisposition genetic testing, research efforts have begun to investigate factors that may influence an individual's intention to undergo testing and the psychosocial sequelae associated with testing. The purpose of this article is to provide an integrative review of the literature that will delineate what is currently known about the psychosocial issues associated with genetic testing for breast and ovarian cancer risk. Important generalizations from the literature include: (a) a positive test for breast cancer susceptibility may ignite a psychological response similar to the diagnosis of breast cancer itself; (b) there is likely a subset of individuals at increased risk for hereditary breast and ovarian cancer who are also at risk for sustained psychosocial problems; (c) available literature challenges a common notion that only individuals with a positive test result will need psychosocial services; and (d) at-risk individuals are basing health care decisions on genetic testing information, thus they are making important decisions under conditions of uncertainty. Clinical issues and directions for future research were highlighted.

摘要

BRCA1/2基因的鉴定及其与各种遗传性癌症可能的病因关系,已被公认为寻找癌症遗传联系的基石,并使得识别那些在这些易感基因之一中携带突变的特定个体和家庭成为可能。乳腺癌和卵巢癌易感性的基因检测可能会带来意想不到的心理和社会问题。由于最近才有了易感性基因检测,研究工作已开始调查可能影响个体进行检测的意愿以及与检测相关的心理社会后果的因素。本文的目的是对文献进行综合综述,以阐述目前已知的与乳腺癌和卵巢癌风险基因检测相关的心理社会问题。文献中的重要概括包括:(a)乳腺癌易感性检测呈阳性可能引发类似于乳腺癌本身诊断的心理反应;(b)可能有一部分遗传性乳腺癌和卵巢癌风险增加的个体,他们也有持续存在心理社会问题的风险;(c)现有文献对一种常见观念提出了挑战,即只有检测结果呈阳性的个体才需要心理社会服务;(d)处于风险中的个体正在根据基因检测信息做出医疗保健决策,因此他们是在不确定的情况下做出重要决策。文中强调了临床问题和未来研究方向。

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