Helping Patients Understand and Cope with BRCA Mutations.
Helping Patients Understand and Cope with BRCA Mutations.
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DOI：
10.1007/s11912-022-01254-8
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发表时间：
2022-06
影响因子：
4.7
通讯作者：
Bedrosian I
中科院分区：
文献类型：
--
作者：
Makhnoon S;Arun B;Bedrosian I
携带BRCA 1/2生殖系突变的个体具有独特的社会心理和教育需求，必须满足这些需求，以确保做出明智的临床决策。在这篇综述中，我们强调了在临床实践中使用的策略，以支持患者的需求，以及目前可用的前和后披露的支持干预措施。临床风险沟通是复杂的不确定性与基因突变，不确定的结果，手术和筛查干预的可变有效性，以及临床遗传学的认识不足。支持患者心理社会需求的干预措施以及有效和可扩展的临床风险沟通策略已被常规使用，在满足患者需求方面基本有效。研究正在开发更新的支持资源;然而，所有突变携带者的代表性不足仍然存在。有效的临床风险沟通策略、决策支持辅助工具、书面教育材料和支持性心理社会工具可以共同对满足BRCA携带者的支持需求产生巨大影响。
Individuals carrying germline mutations in BRCA1/2 have unique psychosocial and educational needs that must be met to ensure informed clinical decision-making. In this review, we highlight the strategies used in clinical practice to support patients’ needs as well as currently available pre- and post-disclosure support interventions. Clinical risk communication is complicated by the uncertainty associated with gene penetrance, inconclusive results, variable effectiveness of surgical and screening interventions, and inadequate awareness of clinical genetics. Interventions to support patients’ psychosocial needs, and strategies for effective and scalable clinical risk communication are in routine use and largely effective at meeting patients’ needs. Research is underway to develop newer supportive resources; however, the inadequate representation of all mutation carriers persists. Effective clinical risk communication strategies, decision support aids, written educational materials, and supportive psychosocial tools can together have a large impact on meeting BRCA carriers’ supportive needs.
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影响因子：
1.7
作者：
Clift, Kristin E.;Macklin, Sarah K.;Hines, Stephanie L.
通讯作者：
Hines, Stephanie L.
影响因子：
1.9
作者：
Chan JL;Johnson LNC;Sammel MD;DiGiovanni L;Voong C;Domchek SM;Gracia CR
通讯作者：
Gracia CR
影响因子：
8.8
作者：
Bredart, A.;Kop, J. L.;Dolbeault, S.
通讯作者：
Dolbeault, S.
DOI：
10.1089/gte.2004.8.240
发表时间：
2004-09-01
期刊：
GENETIC TESTING
影响因子：
--
作者：
Andrews, L;Meiser, B;Tucker, K
通讯作者：
Tucker, K
影响因子：
4.5
作者：
Bancroft EK;Saya S;Page EC;Myhill K;Thomas S;Pope J;Chamberlain A;Hart R;Glover W;Cook J;Rosario DJ;Helfand BT;Hutten Selkirk C;Davidson R;Longmuir M;Eccles DM;Gadea N;Brewer C;Barwell J;Salinas M;Greenhalgh L;Tischkowitz M;Henderson A;Evans DG;Buys SS;IMPACT Study Steering Committee;IMPACT Collaborators;Eeles RA;Aaronson NK
通讯作者：
Aaronson NK