From the Guidelines
Men with BRCA1 mutations should undergo regular monitoring including annual clinical breast exams starting at age 35, prostate cancer screening with PSA testing and digital rectal examination beginning at age 40, and consideration of prostate cancer screening as early as age 30-35 if there's a strong family history. This recommendation is based on the most recent and highest quality study available, which suggests that men with BRCA1 mutations are at increased risk of developing prostate cancer, with a lifetime risk of up to 30% 1. The study also recommends annual blood PSA screening for male BRCA2 carriers from age 40 years, and considers the same for male BRCA1 carriers.
Key Recommendations
- Annual clinical breast exams starting at age 35
- Prostate cancer screening with PSA testing and digital rectal examination beginning at age 40
- Consideration of prostate cancer screening as early as age 30-35 if there's a strong family history
- Melanoma screening with annual full-body skin examinations
- Pancreatic cancer surveillance if there's a family history of pancreatic cancer
The monitoring should be coordinated through a high-risk clinic or genetic counselor who can personalize the surveillance plan based on family history and other risk factors 1. Men with BRCA1 mutations should also be counseled about the 50% chance of passing the mutation to their children and the importance of cascade testing for family members. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian recommend that men with BRCA2 mutations start prostate cancer screening at age 40 and that men with BRCA1 mutations consider the same 1.
Importance of Monitoring
The increased risk of prostate cancer in men with BRCA1 mutations highlights the importance of regular monitoring and screening. The goal of monitoring is to detect cancer at an early stage, when it is more treatable, and to reduce the risk of mortality. By following the recommended surveillance plan, men with BRCA1 mutations can reduce their risk of developing advanced prostate cancer and improve their overall quality of life.
From the Research
Monitoring for Men with BRCA1 Mutation
Men with a BRCA1 mutation are at increased risk of developing aggressive prostate cancer. The following monitoring strategies are recommended:
- Baseline prostate-specific antigen (PSA) and digital rectal exam (DRE) by experienced providers at age 40 years or 5 years earlier than the age of diagnosis of the youngest first- or second-degree relative with metastatic prostate cancer, whichever is earlier 2
- Consideration of magnetic resonance imaging (MRI), biopsy, and/or continued monitoring based on age, DRE, and PSA results 2
- Annual PSA, DRE, and triennial multiparametric MRI for male germline carriers of pathogenic/likely pathogenic variants in prostate cancer risk genes, including BRCA1 3
- MRI-based screening, regardless of PSA, has been shown to have a higher net benefit for prostate cancer diagnosis, especially among men younger than 55 years of age 4
Screening Strategies
Different screening strategies have been evaluated, including:
- PSA-based screening alone, which has been shown to have a lower sensitivity and negative predictive value compared to MRI-based screening 3, 4
- MRI-based screening, which has been shown to enhance early detection of clinically significant prostate cancer and reduce unnecessary biopsies 3, 4
- A combination of PSA and MRI-based screening, which may be considered for men with a BRCA1 mutation, especially those older than 55 years 4
Importance of Genetic Testing and Risk Management
Genetic testing and risk management are crucial for men with a BRCA1 mutation, as they can inform cancer screening and risk reduction strategies 5, 6
- Men with a BRCA1 mutation should be aware of their cancer risks and communicate this information to their family members and healthcare providers 5
- Oncologists, internists, and primary care clinicians should be vigilant about offering appropriate genetic testing to males with a family history of cancer or other risk factors 6