Breast Cancer Screening and Prevention Recommendations for Men with Family History of Breast Cancer
Men with a family history of breast cancer should be offered genetic counseling and genetic testing for germline mutations, as approximately 20% of male breast cancer patients carry an identifiable inherited risk factor. 1
Genetic Testing Recommendations
Who Should Undergo Genetic Testing
- All men with a personal history of breast cancer should be offered genetic counseling and testing for germline mutations 1
- Men with a family history of breast cancer should consider genetic counseling and testing, especially if:
- They have one or more family members with a known BRCA1/2 or other breast cancer gene mutation
- Multiple family members have been diagnosed with breast, ovarian, or other BRCA-related cancers
- Male relatives have had breast cancer
Genetic Mutations and Risk Assessment
- Male BRCA2 mutation carriers have approximately 6.8% lifetime risk of breast cancer by age 70 1, 2
- Male BRCA1 mutation carriers have approximately 1.2% lifetime risk of breast cancer by age 70 1, 2
- Male PALB2 mutation carriers have a lifetime risk of breast cancer of <1% 3
- These risks are significantly higher than the general male population risk of 0.1% 3
Screening Recommendations Based on Genetic Status
For Men with BRCA1/2 Mutations
- Contralateral annual mammogram may be offered to men with a history of breast cancer and a genetic predisposing mutation 1
- Breast magnetic resonance imaging (MRI) is not recommended routinely in men with a history of breast cancer 1
- The recommendation against routine breast MRI is based on:
- The relatively small amount of breast tissue present in most men
- Lack of data demonstrating survival improvement
- Potential for false positives 1
For Men with PALB2 Mutations
- Routine annual mammography is not recommended for male PALB2 mutation carriers due to low lifetime risk 3
- Breast awareness should be encouraged, with prompt medical attention for any physical changes in the breast 3
- Consider annual PSA screening from age 40 due to increased prostate cancer risk 3
- Consider pancreatic cancer screening from age 50 if there is family history of pancreatic cancer 3
For Men with No Known Genetic Mutation
- There is no consensus on routine mammography screening for men with family history but no identified genetic mutation 1
- The ASCO Expert Panel could not reach consensus on contralateral annual mammography in men without a predisposing genetic mutation 1
High-Risk Features That May Warrant Additional Screening
Consider mammography screening in men with additional high-risk features:
- Presence of gynecomastia (increases risk 9.8-fold)
- Klinefelter syndrome (increases risk 24.7-fold)
- Family history of male breast cancer 3
Post-Treatment Surveillance for Men with Breast Cancer
- Ipsilateral annual mammogram should be offered to men with a history of breast cancer treated with lumpectomy, if technically feasible, regardless of genetic predisposition 1
- Follow-up care for men treated for breast cancer should generally be similar to care provided for women with breast cancer 1
Common Pitfalls and Caveats
- Men are often overlooked in breast cancer screening discussions despite their risk with certain genetic mutations
- Men may face unique psychosocial challenges related to breast cancer risk and diagnosis
- The principal motivation for men seeking genetic counseling is often concern for their daughters 4
- More than half of male mutation carriers report intrusive thoughts about their cancer risk 4
- There is limited evidence on the efficacy of mammography screening in males, making it difficult to establish clear benefit 3
- Men may encounter difficulties establishing surveillance regimens for breast and prostate cancer 4
By following these evidence-based recommendations, clinicians can provide appropriate screening and prevention strategies for men with a family history of breast cancer, potentially reducing morbidity and mortality through early detection and intervention.