| World Journal of Oncology, ISSN 1920-4531 print, 1920-454X online, Open Access |
| Article copyright, the authors; Journal compilation copyright, World J Oncol and Elmer Press Inc |
| Journal website https://wjon.elmerpub.com |
Review
Volume 17, Number 1, February 2026, pages 14-24
Screening, Risk Reduction Strategies, and Clinical Management of Unaffected Carriers of BRCA1 or BRCA2 Pathogenic Variants
Tables
| aAs per the National Comprehensive Cancer Network (NCCN) guidelines. EBC: early breast cancer; HER2: human epidermal growth factor receptor-2; MBC: metastatic breast cancer; PARP: poly (ADP ribose) polymerase; TNBC: triple-negative breast cancer. | |
| Age | All patients ≤ 65 years |
| Gender | All male patients |
| Ancestry | All patients with Ashkenazi Jewish Ancestry |
| Treatment indication | 1) Systemic treatment decisions using PARP inhibitors for MBC 2) Adjuvant treatment decisions with PARP inhibitors for high-risk, HER2-negative EBC |
| Pathology | 1) TNBC 2) Multiple primary breast cancer (synchronous or metachronous) 3) Lobular breast cancer with personal or family history of diffuse gastric cancer |
| Family history | Family history suggests the possibility of a pathogenic variant |
| Patients and at-risk relatives | 1) Knowledge (relevance and importance of testing) 2) Fear of discrimination 3) Fear of cancer diagnosis 4) Cost 5) Confidentiality |
| Provider | Knowledge: a) Whom to test? b) Testing process; c) Result interpretation and counseling |
| System | 1) Public awareness 2) Insurance coverage (cost of testing; access to risk-reducing interventions) 3) Communication (primary provider, counselors, surgeons, oncologist) 4) Availability of genetic counselors |
| End points | BSO | No BSO | HR | 95% CI |
|---|---|---|---|---|
| BSO: bilateral salpingo-oophorectomy; CI: confidence interval; HR: hazard ratio. | ||||
| First diagnosis of breast cancer | ||||
| BRCA1 | 14% | 20% | 0.63 | 0.41 - 0.96 |
| BRCA2 | 7% | 23% | 0.36 | 0.16 - 0.82 |
| All-cause mortality | 3% | 10% | 0.40 | 0.26 - 0.61 |
| Breast cancer-specific mortality | 2% | 6% | 0.44 | 0.26 - 0.76 |
| Ovarian cancer-specific mortality | 0.4% | 3% | 0.21 | 0.06 - 0.80 |