Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies.
Eliza Del Fiol Manna1, Davide Serrano2, Laura Cazzaniga2,3
1Division of Oncogenetics, Unimed Sorocaba, Sorocaba 18040-580, Brazil.
Genes
|January 25, 2025
Summary
Women with pathogenic variants in breast cancer genes have higher risks, but penetrance varies. Personalized prevention strategies, including lifestyle changes and enhanced screening, are crucial for managing hereditary breast cancer risk.
Area of Science:
- Genetics
- Oncology
- Preventive Medicine
Background:
- Pathogenic/likely pathogenic (P/LP) variants in moderate- to high-penetrance genes increase breast cancer risk.
- Incomplete penetrance of these variants means not everyone develops cancer, influenced by various factors.
- Gaps exist in understanding how genomic variations impact disease presentation.
Purpose of the Study:
- To review inconsistencies in current literature regarding risk factors and preventive strategies for hereditary breast cancer.
- To synthesize evidence on risk assessment and prevention for women with P/LP variants.
- To address limitations in translating genomic variation to phenotypic presentation.
Main Methods:
- Literature review of current evidence on hereditary breast cancer risk factors and prevention.
- Synthesis of data on risk assessment, primary, and secondary prevention strategies.
- Analysis of inconsistencies regarding moderate- and high-penetrance gene variants.
Main Results:
- Most P/LP variants show incomplete penetrance, affected by age, lifestyle, and other factors.
- Expanded genetic testing identifies more individuals with P/LP variants.
- Individualized risk assessment is key for personalized prevention.
Conclusions:
- Personalized risk assessment and tailored preventive interventions are essential for women with P/LP variants.
- Preventive strategies include lifestyle changes, chemoprevention, enhanced surveillance, and risk-reducing surgeries.
- Further research is needed to bridge the gap between genomic variation and clinical manifestation.
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