From the Guidelines
Individuals with a family history of breast cancer should consider genetic counseling and BRCA1/BRCA2 testing, especially if they have multiple affected relatives, early-onset breast cancer in the family (before age 50), male breast cancer, or Ashkenazi Jewish ancestry. This is based on the recommendations from the U.S. Preventive Services Task Force (USPSTF) 1. The USPSTF recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with one of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes.
Key Considerations
- Women with a family history of breast or ovarian cancer should be offered genetic counseling and testing if they have a known potentially harmful mutation in the BRCA1 or BRCA2 genes 1.
- The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes 1.
- For women who test positive for BRCA mutations, preventive measures include enhanced surveillance with annual mammograms and breast MRIs starting at age 25-30, chemoprevention options like tamoxifen (20mg daily for 5 years) or raloxifene for postmenopausal women, and risk-reducing surgeries such as prophylactic mastectomy and/or oophorectomy 1.
Preventive Measures
- Prophylactic mastectomy can reduce breast cancer risk by over 90% 1.
- Oophorectomy before menopause reduces ovarian cancer risk by 80-90% and breast cancer risk by 50% 1.
- Lifestyle modifications like maintaining a healthy weight, limiting alcohol, regular exercise, and avoiding hormone replacement therapy are also recommended.
Importance of Early Identification
These recommendations are important because BRCA mutations significantly increase lifetime risk of developing breast cancer (up to 70%) and ovarian cancer (up to 44%), making early identification and intervention crucial for risk management 1.
From the Research
Recommendations for BRCA1 and BRCA2 Gene Testing
- The US Preventive Services Task Force recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool 2.
- Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing 2.
- The benefits of risk assessment, genetic counseling, genetic testing, and interventions are moderate for women whose family or personal history is associated with an increased risk for harmful mutations in the BRCA1/2 genes 2.
Risk Assessment and Family History
- Family history remains one of the strongest risk factors for breast cancer, with women having a first-degree relative affected by breast cancer being twice as likely to develop the disease themselves 3.
- A history of breast cancer in both first- and second-degree relatives is more strongly associated with breast cancer than simple first-degree family history 4.
- Having a first-degree family history of breast cancer is associated with an increased risk of triple-negative breast cancer, with a magnitude of association similar to that for the predominant ER+ subtype and ER-/PR-/HER2+ breast cancer 5.
Preventive Measures
- Interventions to reduce the risk for breast, ovarian, tubal, or peritoneal cancer in women with potentially harmful BRCA1/2 mutations include intensive cancer screening, medications, and risk-reducing surgery 2.
- Germline BRCA1/2 pathogenic or likely pathogenic variants are clinically relevant for treatment selection in breast cancer because they confer sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors 6.
- BRCA1/2 mutation status may also impact decisions on other systemic therapies, risk-reducing measures, and choice of surgery 6.