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

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.