• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

家族内沟通 BRCA1/2 基因检测结果:定性分析。

Communicating BRCA1/2 genetic test results within the family: a qualitative analysis.

机构信息

Research Department of Clinical, Educational and Health Psychology, University College London, London WC1E7HB, UK.

出版信息

Psychol Health. 2011 Aug;26(8):1018-35. doi: 10.1080/08870446.2010.525640. Epub 2011 Jul 28.

DOI:10.1080/08870446.2010.525640
PMID:21797732
Abstract

Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants' and recipients' perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients' and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals' responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered.

摘要

BRCA1/2 基因突变与遗传性乳腺癌和卵巢癌相关的基因检测揭示了个体患癌症的风险信息。研究正在接受基因检测的家庭成员之间的沟通过程非常重要,因为所收到的信息不仅对有关个人而且对生物家庭的其他成员都至关重要。本研究从信息提供者和接受者的角度调查了 BRCA1/2 检测结果的家庭沟通。共采访了 10 名女性患者和 22 名亲属。患者及其亲属描述了在家庭中分享遗传信息以降低其他成员患癌症风险的责任。但是,一旦向关键家庭成员提供了信息,个人的责任就会受到限制,他们必须承担继续传播信息的责任。虽然有向家人告知突变的隐含责任,但信息会根据亲属的情绪准备程度、适应力以及当前的生活阶段和情况进行编辑或隐瞒,以维护其利益。先前的家庭文化以及先前的癌症诊断对家庭的影响也会影响沟通过程。研究结果与现有文献进行了讨论,并考虑了对临床实践的影响。

相似文献

1
Communicating BRCA1/2 genetic test results within the family: a qualitative analysis.家族内沟通 BRCA1/2 基因检测结果:定性分析。
Psychol Health. 2011 Aug;26(8):1018-35. doi: 10.1080/08870446.2010.525640. Epub 2011 Jul 28.
2
Communication about genetic testing in families of male BRCA1/2 carriers and non-carriers: patterns, priorities and problems.男性BRCA1/2基因携带者和非携带者家庭中基因检测的沟通:模式、重点与问题
Clin Genet. 2005 Jun;67(6):492-502. doi: 10.1111/j.1399-0004.2005.00443.x.
3
Experiences of BRCA1/2 Gene Mutation-Positive Women With Cancer in Communicating Genetic Risk to Their Relatives.BRCA1/2 基因突变阳性癌症患者将遗传风险告知亲属的体验。
Cancer Nurs. 2021;44(3):E142-E150. doi: 10.1097/NCC.0000000000000796.
4
Communication of BRCA1 and BRCA2 results to at-risk relatives: a cancer risk assessment program's experience.将BRCA1和BRCA2检测结果告知高危亲属:一项癌症风险评估项目的经验
Am J Med Genet C Semin Med Genet. 2003 May 15;119C(1):11-8. doi: 10.1002/ajmg.c.10003.
5
Differences between women who pursued genetic testing for hereditary breast and ovarian cancer and their at-risk relatives who did not.进行遗传性乳腺癌和卵巢癌基因检测的女性与其未进行检测的高危亲属之间的差异。
Oncol Nurs Forum. 2011 Sep;38(5):572-81. doi: 10.1188/11.ONF.572-581.
6
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations.与BRCA1和BRCA2基因突变相关的遗传性乳腺癌卵巢癌综合征家族中女性接受预防性卵巢切除术后的腹腔内癌转移
Gynecol Oncol. 2005 May;97(2):457-67. doi: 10.1016/j.ygyno.2005.01.039.
7
Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian families with breast and/or ovarian cancer.BRCA1和BRCA2基因常见突变的筛查:对突尼斯乳腺癌和/或卵巢癌家族进行基因检测的意义
Bull Cancer. 2014 Nov;101(11):E36-40. doi: 10.1684/bdc.2014.2049.
8
Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching.对先前被诊断患有乳腺癌/卵巢癌的女性进行基因检测:探究BRCA1和BRCA2基因突变检测的影响。
Genet Test. 2002 Summer;6(2):79-87. doi: 10.1089/10906570260199320.
9
Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell.与一级亲属分享BRCA1/2检测结果:预测女性告知对象的因素
J Clin Oncol. 2006 Feb 1;24(4):700-6. doi: 10.1200/JCO.2005.01.7541.
10
[Information spreading about hereditary carriage of a BRCA1/2 mutation and ovarian cancer and rate of consultation of the concerned relatives].[关于BRCA1/2基因突变的遗传携带与卵巢癌的信息传播及相关亲属的咨询率]
Bull Cancer. 2008 Apr;95(4):395-402. doi: 10.1684/bdc.2008.0622.

引用本文的文献

1
Prospective changes in primary care patients' family communication after skin cancer genetic test offer.皮肤癌基因检测提供后,初级保健患者家庭沟通的前瞻性变化。
PEC Innov. 2025 Jun 7;7:100409. doi: 10.1016/j.pecinn.2025.100409. eCollection 2025 Dec.
2
Uptake of Risk-Reducing Measures, Cascade Testing, and Related Challenges Among Carriers of Breast Cancer-Associated Germline Pathogenic Variants in Mexico.墨西哥乳腺癌相关种系致病性变异携带者的风险降低措施、级联检测及相关挑战的采用情况。
JCO Glob Oncol. 2024 Apr;10:e2300417. doi: 10.1200/GO.23.00417.
3
Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center.
在一家大型城市综合性癌症中心,对携带致病性 BRCA1/2 变异的遗传性乳腺癌和卵巢癌综合征女性进行了筛查和降低风险建议的评估。
Breast Cancer Res Treat. 2024 Jul;206(2):261-272. doi: 10.1007/s10549-024-07283-0. Epub 2024 Apr 12.
4
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs.级联遗传检测在遗传性癌症综合征中的应用:障碍与突破的综述。
Fam Cancer. 2024 Jun;23(2):111-120. doi: 10.1007/s10689-024-00373-4. Epub 2024 Mar 26.
5
Cancer Genetic Services in a Low- to Middle-Income Country: Cross-Sectional Survey Assessing Willingness to Undergo and Pay for Germline Genetic Testing.中低收入国家的癌症遗传服务:横断面调查评估对种系遗传检测的接受意愿和支付意愿。
JCO Glob Oncol. 2023 Feb;9:e2100140. doi: 10.1200/GO.21.00140.
6
Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing.移动应用程序在美国综合医疗系统中向高危家庭成员传达基因检测结果的效用:来自用户测试的定性方法
Health Policy Technol. 2021 Jun;10(2). doi: 10.1016/j.hlpt.2021.100511. Epub 2021 Apr 22.
7
The big reveal: Family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer.大揭秘:年轻黑人女性浸润性乳腺癌患者 BRCA 基因检测结果的家庭披露模式。
J Genet Couns. 2020 Jun;29(3):410-422. doi: 10.1002/jgc4.1196. Epub 2020 Jan 7.
8
Challenges and strategies proposed by genetic health professionals to assist with family communication.遗传健康专业人员提出的帮助家庭沟通的挑战和策略。
Eur J Hum Genet. 2019 Nov;27(11):1630-1638. doi: 10.1038/s41431-019-0447-9. Epub 2019 Jun 12.
9
Legacies and Relationships: Diverse Social Networks and BRCA1/2 Risk Management Decisions and Actions.遗产与关系:不同的社交网络与 BRCA1/2 风险管理决策和行为。
J Fam Nurs. 2019 Feb;25(1):28-53. doi: 10.1177/1074840718815844. Epub 2018 Dec 12.
10
"Second-Class Status?" Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome.“二等公民身份?”深入了解遗传性乳腺癌和卵巢癌综合征男性的沟通模式及常见担忧
J Genet Couns. 2018 Aug;27(4):885-893. doi: 10.1007/s10897-018-0214-z. Epub 2018 Feb 5.