ArticleMolecular genetics & genomic medicine2022
Risk-reducing mastectomy decisions among women with mutations in high- and moderate- penetrance breast cancer susceptibility genes.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- The Clinical Application of Refined Risk Estimates Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A Randomized Controlled Trial.Cancer prevention research (Philadelphia, Pa.) · 2026Trial
- Risk-Reducing Interventions in Women With Pathogenic Variants in Breast Cancer Susceptibility Genes.JCO precision oncology · 2026Article
- Surgical Choice among Women with a First Breast Cancer and Pathogenic Variants in Breast Cancer Genes.Annals of surgical oncology · 2025Article
- Experiences with risk-reducing mastectomy in Norwegian BRCA1/2 carriers without prior breast cancer.Familial cancer · 2025Article
- Postoperative Outcomes of One-Step Implant-Based Breast and Ovarian Surgery in High-Penetrance Gene Mutation: A Single-Center Experience.Journal of clinical medicine · 2025Article
- Review
- Demographics and Clinical Decision Making in Patients with Germline Moderate Penetrance Non-BRCA Mutations in Breast Cancer Related Genes.Annals of surgical oncology · 2024Article
- BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?NPJ breast cancer · 2024Review
- Risk-reducing mastectomy decisions among women with mutations in high- and moderate- penetrance breast cancer susceptibility genes.Molecular genetics & genomic medicine · 2022Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
backgroundWomen harboring mutations in breast cancer susceptibility genes are at increased lifetime risk of developing breast cancer and are faced with decisions about risk management, including whether to undergo high-risk screening or risk-reducing mastectomy (RRM). National guidelines recommend BRCA1 or BRCA2 mutation carriers consider RRM, but that carriers of moderate penetrance mutations (e.g., ATM or CHEK2) should be managed based on family history. We aimed to investigate determinants of decision for RRM, and hypothesized that mutation status, age, family history, partner status, and breast cancer would impact RRM decision making.
methodsWe performed a retrospective study assessing RRM decisions for 279 women.
resultsWomen with BRCA and moderate penetrance gene mutations, a personal history of breast cancer, or a first degree relative with a history of breast cancer were more likely to undergo RRM. Breast cancer status and age showed an interaction effect such that women with breast cancer were less likely to undergo RRM with increasing age.
conclusionAlthough national guidelines do not recommend RRM for moderate penetrance carriers, the rates of RRM for this population approached those for BRCA mutation carriers. Further insights are needed to better support RRM decision-making in this population.
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