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Abstract
Hereditary breast cancer represents a highly aggressive subset of oncological pathologies, primarily driven by pathogenic germline mutations in highly penetrant susceptibility genes such as BRCA1, BRCA2, TP53, and PALB2. This comprehensive review elucidates the critical imperatives of early diagnosis and prognostic evaluation specifically tailored to the hereditary breast cancer phenotype. By synthesizing contemporary clinical guidelines, advanced molecular screening protocols, and longitudinal prognostic data, this study highlights the paradigm shift from generalized population screening to individualized, genetically-guided surveillance. The integration of high-resolution magnetic.
References
1. Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-2416.
2. Tung N, Lin NU, Kidd J, et al. Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. Journal of Clinical Oncology. 2016;34(13):1460-1468.
3. Riedl CC, Luft N, Bernhart C, et al. Triple-Modality Screening Trial for Familial Breast Cancer Underlines the Importance of Magnetic Resonance Imaging and Questions the Role of Mammography and Ultrasound Regardless of Patient Mutation Status. Journal of Clinical Oncology. 2015;33(10):1128-1135.
4. Tutt ANJ, Garber JE, Kaufman B, et al. Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer. New England Journal of Medicine. 2021;384(25):2394-2405.
5. Litton JK, Rugo HS, Ettl J, et al. Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation. New England Journal of Medicine. 2018;379(8):753-763.
6. Daly MB, Pal T, Berry MP, et al. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021. Journal of the National Comprehensive Cancer Network. 2021;19(1):77-102.
7. Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D. Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis. Medicine (Baltimore). 2016;95(40):e4975.
8. Fasching PA, Loibl S, Hu C, et al. BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study. Journal of Clinical Oncology. 2018;36(22):2281-2287.
9. Hartmann LC, Lindor NM. The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer. New England Journal of Medicine. 2016;374(5):454-468.
10. Robson M, Im SA, Senkus E, et al. Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation. New England Journal of Medicine. 2017;377(6):523-533.