BRCA1/2 遗传性卵巢癌综合征的风险降低策略:临床实践指南。

IF 2 4区 医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2021-09-26 DOI:10.1186/s13053-021-00196-9
Michelle Jacobson, Nadia Coakley, Marcus Bernardini, Kelly-Ann Branco, Laurie Elit, Sarah Ferguson, Raymond Kim
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引用次数: 0

摘要

目的本指南旨在为 BRCA1 和 BRCA2 中携带致病变异或可能致病变异的女性提供相关建议:方法:根据对研究性临床试验、比较性回顾研究和指南认可所获得的证据制定了建议草案。建议草案经过了临床和方法学专家的内部审查以及临床从业人员的外部审查:结果:通过文献检索,有 1 份指南、5 篇系统综述和 15 项研究符合资格标准:不建议对 BRCA1 和 BRCA2 存在致病或可能致病变异的女性进行卵巢癌筛查。建议采用降低风险的手术来降低卵巢癌的风险。如果没有禁忌症,绝经前接受 RRSO 的妇女应接受激素治疗直至绝经。有乳腺癌病史的女性不建议接受全身激素替代治疗。对于 50 岁以下的女性,应考虑使用 RRSO 降低乳腺癌风险。确诊乳腺癌后,如果年龄小于降低卵巢癌风险的推荐年龄范围,可考虑在两年内对 BRCA1 中携带致病或可能致病变异的女性进行 RRSO 治疗,以降低乳腺癌死亡率。只有在乳腺癌肿瘤专家建议的情况下,才能考虑在 40 岁之前进行 RRSO,特别是为了治疗 BRCA2 中的乳腺癌。RRSO 后,不建议进行腹膜癌监测。
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Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline.

Objective: The purpose of this guideline is to make recommendations regarding the care of women who harbour a pathogenic or likely pathogenic variant in BRCA1 and BRCA2.

Methods: Draft recommendations were formulated based on evidence obtained through a systematic review of RCTs, comparative retrospective studies and guideline endorsement. The draft recommendations underwent an internal review by clinical and methodology experts, and an external review by clinical practitioners.

Results: The literature search yielded 1 guideline, 5 systematic reviews, and 15 studies that met the eligibility criteria.

Conclusions: In women who harbour a pathogenic or likely pathogenic variant in BRCA1 and BRCA2 screening for ovarian cancer is not recommended. Risk-reducing surgery is recommended to reduce the risk of ovarian cancer. In the absence of contraindications, premenopausal women undergoing RRSO should be offered hormone therapy until menopause. Systemic hormone replacement therapy, is not recommended for women who have had a personal history of breast cancer. RRSO should be considered for breast cancer risk reduction in women younger than 50 years. After a breast cancer diagnosis, RRSO for breast cancer mortality reduction can be considered within two years to women who harbour a pathogenic or likely pathogenic variant in BRCA1 if younger than the recommended age range for ovarian cancer risk reduction. RRSO before the age of 40 and specifically for breast cancer treatment in BRCA2 should be considered only if recommended by their breast cancer oncologist. Following RRSO, it is not recommended to do surveillance for peritoneal cancer.

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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
期刊最新文献
BRCA2 germline mutation carrier with five malignancies: a case report. A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives. Breast cancer and ATM mutations: treatment implications. Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2023". Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing.
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