Breast cancer susceptibility testing: past, present and future
Jessica I Goldberg1, Patrick I Borgen
1Breast Service, Memorial Sloan Kettering Cancer Center Department of Surgery, 1275 York Avenue, MRI-1026, New York, NY 10021, USA. goldbej1@mskcc.org
Expert Review of Anticancer Therapy
|August 24, 2006
Summary
Hereditary breast and ovarian syndrome, often caused by BRCA1/BRCA2 gene mutations, significantly increases breast and ovarian cancer risks. Management involves prevention strategies like surgery, chemoprevention, and surveillance for mutation carriers.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Breast cancer arises from a complex interaction of genetic and epigenetic factors.
- Hereditary breast and ovarian syndrome, linked to BRCA1/BRCA2 mutations, accounts for 5-10% of breast cancers.
- BRCA proteins are crucial for DNA repair, cell cycle regulation, and transcription, though their functions are not fully elucidated.
Purpose of the Study:
- To review the role of BRCA1 and BRCA2 mutations in hereditary breast and ovarian cancer.
- To discuss the clinical management and prevention strategies for BRCA mutation carriers.
- To reflect on the implications of BRCA gene discoveries for understanding sporadic breast cancer.
Main Methods:
- Literature review of genetic factors in breast cancer.
- Analysis of mutation data for BRCA1 and BRCA2 genes.
- Examination of clinical management strategies for hereditary cancer syndromes.
Main Results:
- Deleterious BRCA mutations confer a 50-80% risk of breast cancer and a 15-25% risk of ovarian cancer.
- BRCA heterozygotes face a 60% risk of contralateral breast cancer.
- Prevention strategies for BRCA carriers include risk-reducing surgery, chemoprevention, lifestyle modifications, and enhanced surveillance.
Conclusions:
- BRCA1/BRCA2 mutations are significant drivers of hereditary breast and ovarian cancer.
- Comprehensive management plans are essential for individuals with BRCA mutations.
- Understanding hereditary factors like BRCA genes offers insights into sporadic breast cancer development.
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