Cited by 21BRCA gene mutations in cancerMultiple and Secondary Primary CancersPARP inhibition in cancer therapy

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Prophylactic Interventions for Hereditary Breast and Ovarian Cancer Risks and Mortality in BRCA1/2 Carriers

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Abstract

Background: Hereditary breast and ovarian cancers (HBOCs) pose significant health risks worldwide and are mitigated by prophylactic interventions. However, a meta-analysis of their efficacy and the impact of different genetic variants on their effectiveness is lacking. Methods: A systematic review and meta-analysis were conducted, adhering to Cochrane guidelines. The review encompassed studies that involved prophylactic interventions for healthy women with BRCA variants, focusing on cancer incidence and mortality outcomes. The Newcastle–Ottawa Scale was used for risk of bias assessment. We pooled the extracted outcomes using random effects models and conducted subgroup analyses stratified by intervention, variant, and cancer types. Results: A total of 21 studies met the inclusion criteria. The meta-analysis revealed that prophylactic interventions significantly reduced cancer risk and mortality. The subgroup analysis showed a greater protective effect for BRCA2 than BRCA1 variant carriers. Risk-reducing surgeries (RRS) were more effective than chemoprevention, with RRS notably reducing cancer risk by 56% compared to 39% for chemoprevention. Prophylactic oophorectomy significantly reduced HBOC risks, while the effect of prophylactic mastectomy and chemoprevention on mortality was less conclusive. Conclusions: Prophylactic interventions significantly reduce the risk of HBOC and associated mortality. This comprehensive analysis provides insights for future economic evaluations and clinical decision-making in HBOC interventions.

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Crossref · 10.3390/cancers16010103

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  • A meta-analysis of 21 studies found that risk-reducing surgery (BSO and RRM) significantly reduced cancer risk and mortality.

    “The meta-analysis revealed that RRS (BSO and RRM) significantly reduced cancer risk and mortality.”

    From Screening, Risk Reduction Strategies, and Clinical Management of Unaffected Carriers of BRCA1 or BRCA2 Pathogenic Variants (2026) · cites this paper as [56]

    The Results (section 3.3) report that risk-reducing surgery lowered cancer risk and that oophorectomy significantly lowered breast-cancer-specific mortality. But the Discussion (section 4) says risk-reducing mastectomy did not significantly alter mortality risk, so the claim overstates the mortality finding when applied to both surgeries. The paper reports 21 included studies. (LLM, conf=0.90)

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Cites

  • Breast Cancer after Prophylactic Bilateral Mastectomy in Women with a BRCA1 or BRCA2 Mutation

    Meijers-Heijboer, H., van Geel, B., van Putten, W. L. J., Henzen-Logmans, S. C., Seynaeve, C., Menke-Pluymers, M. B. E., Bartels, C. C. M., Verhoog, L. C., van den Ouweland, A. M. W., Niermeijer, M. F., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200107193450301 · Cited by 973 · cited 2×

    “…et al., 2008 [25], Domchek et al., 2010 [10], Heemskerk-Gerritsen, 2013 and 2019 [20,21], Kaas et al., 2010 [23], and Meijers-Heijboer et al., 2001 [30], as well as Finch et al., 2014 [19], were excluded from Figure 2b–d, and substudies by Mavaddat et al., 2020 [29] were omitted from Figure 2a…”
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Cited by

Metadata

Authors
Liu, T., Yu, J., Gao, Y., Ma, X., Jiang, S., Gu, Y., & Ming, W.-K.
Affiliations
  • City University of Hong Kong (HK)
  • Macquarie University (AU)
Corresponding author
  • Gu, Yuanyuan
  • Ming, Wai-kit
Venue
Cancers
Publisher
MDPI AG
Published
2023-12-24
Volume
16
Issue
1
Pages
103
ISSN
2072-6694 (ISSN-L)
OpenAlex
W4390175983
Cited by
21
References
1
Citations by year
2026: 6 · 2025: 10 · 2024: 5
FWCI
0.81
Type
journal article
Language
en
Open access
Locations
  • Cancers (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • CityU Scholars (submittedVersion, cc-by)
Funders
SIRG—the CityU Strategic Interdisciplinary Research Grant (7020093)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
  • Health Sciences › Medicine › Oncology › PARP inhibition in cancer therapy
Keywords
hereditary breast and ovarian cancer, BRCA1, BRCA2, prophylactic interventions, prophylactic surgery, prophylactic oophorectomy, prophylactic mastectomy, chemoprevention, cancer risk reduction, cancer mortality, genetic variants

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