AI Article Synopsis
- The study investigates how genetic mutations in breast cancer patients influence their treatment choices and management strategies.
- It categorizes patients based on the type of mutation (BRCA1/2, high penetrance, moderate penetrance) and when they had genetic testing (at diagnosis or after treatment).
- Results show that those tested at diagnosis preferred more aggressive surgeries like bilateral mastectomy, while those who had prior treatment mostly opted for surveillance.
Article Abstract
Background: We aim to characterize breast management for patients with genetic mutations and concurrent breast cancer (BC) or prior BC treatment.
Methods: Adults with a BC-related mutation and prior/concurrent BC diagnosis were identified. Groups were stratified by mutation type [BRCA1/2, high penetrance mutation (HPM), moderate penetrance mutation (MPM)] and timing of genetic testing (concurrent with BC versus after BC treatment). Outcomes were compared.
Results: Among 338 patients included, 63 % had BRCA1/2 mutations, 9 % HPM, and 28 % MPM. Approximately 38 % had testing concurrent with a BC diagnosis and 62 % after BC treatment. Patients with concurrent testing favored bilateral mastectomy (57 %) versus 26 % lumpectomy, and 16 % unilateral mastectomy, which varied by mutation type. Patients previously treated preferred surveillance (92 % vs. 8 % additional surgery), regardless of mutation type.
Conclusion: The timing of a significant BC-related genetic test result and mutation type may be associated with management decisions among patients with breast cancer.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649441 | PMC |
| http://dx.doi.org/10.1016/j.amjsurg.2024.116005 | DOI Listing |
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