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乳腺癌1号/2号基因突变携带者乳腺癌和卵巢癌风险管理的证据总结

Evidence summary for risk management of breast and ovarian cancers in carriers of breast cancer susceptibility gene 1/2 mutations

    摘要
  • 摘要:
    目的  系统检索、评价并总结乳腺癌1号/2号基因(BRCA1/2)突变携带者乳腺癌和卵巢癌风险管理的证据。
    方法  系统检索BMJ Best Practice、UpToDate、美国国立指南网(NGC)、英国国家卫生与临床优化研究所(NICE)、苏格兰校际指南网(SIGN)、国际指南协作网(GIN)、新西兰指南协作组(NZGG)、加拿大医学会临床实践指南信息库(CMA InfoBase)、加拿大安大略注册护士协会(RNAO)、美国国立综合癌症网络(NCCN)、加拿大安大略省癌症护理中心(CCO)、医脉通网站、美国临床肿瘤协会(ASCO)、欧洲临床肿瘤协会(ESMO)、美国癌症协会(ACS)、美国妇产科医师学会(ACOG)、乔安娜布里格斯研究所(JBI)、Cochrane Library、PubMed、Web of Science、Embase、CINAHL、ProQuest、ClinicalTrials. gov、中国知网、万方数据库、维普数据库和SinoMed中有关BRCA1/2突变携带者乳腺癌和卵巢癌风险管理的证据, 包括临床决策、指南、系统评价、专家共识、证据总结。检索时限为建库至2024年9月20日。
    结果  共纳入14篇文献，其中临床决策1篇，指南8篇，专家共识5篇。本研究基于风险评估、风险监测、降低风险手术、药物预防、健康指导共5个主题总结了24条证据。
    结论  本研究证据总结过程规范，汇总的证据内容较为全面。医护人员应结合患者的个体特征、家族史、个人意愿以及卫生资源可及性综合考量，以实现遗传性肿瘤风险的有效防控。

     

    Abstract:
    Objective  To systematically search, evaluate, and summarize the evidence for risk management of breast and ovarian cancers in carriers of breast cancer susceptibility gene 1/2 (BRCA1/2) mutations.
    Methods  A systematic search was conducted in BMJ Best Practice, UpToDate, the National Guideline Clearinghouse (NGC), the National Institute for Health and Care Excellence (NICE), the Scottish Intercollegiate Guidelines Network (SIGN), the Guidelines International Network (GIN), the New Zealand Guidelines Group (NZGG), the Canadian Medical Association Infobase (CMA InfoBase), the Registered Nurses'Association of Ontario (RNAO), the National Comprehensive Cancer Network (NCCN), Cancer Care Ontario (CCO), the Medlive website, the American Society of Clinical Oncology (ASCO), the European Society for Medical Oncology (ESMO), the American Cancer Society (ACS), the American College of Obstetricians and Gynecologists (ACOG), the Joanna Briggs Institute (JBI), the Cochrane Library, PubMed, Web of Science, Embase, CINAHL, ProQuest, ClinicalTrials. gov, China National Knowledge Infrastructure, Wanfang Data, VIP Database, and SinoMed for evidence related to risk management of breast and ovarian cancers in BRCA1/2 mutation carriers, including clinical decisions, guidelines, systematic reviews, expert consensus, and evidence summaries. The search period was from the inception of each database to September 20, 2024.
    Results  A total of 14 articles were included, comprising 1 clinical decision, 8 guidelines, and 5 expert consensus documents. Based on five themes—risk assessment, risk monitoring, risk-reducing surgery, pharmacologic prevention, and health guidance, a total of 24 pieces of evidence were summarized.
    Conclusion  The evidence summarization process in this study is standardized, and the summarized evidence is relatively comprehensive. Healthcare professionals should comprehensively consider patients'individual characteristics, family history, personal preferences, and the accessibility of healthcare resources to achieve effective prevention and control of hereditary tumor risks.

     

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