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

↓  Table 1. Recommendations for Germline Genetic Testinga
 
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

 

↓  Table 2. Commonly Encountered Barriers for Germline Genetic Testing
 
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

 

↓  Table 3. Hidden Benefits of BSO
 
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