Genetic predisposition syndromes and their management
David M Euhus1, Linda Robinson
1Department of Surgery, UT Southwestern Medical Center at Dallas, Dallas, TX, USA. David.euhus@utsouthwestern.edu
The Surgical Clinics of North America
|March 8, 2013
Summary
Genetic testing for breast cancer susceptibility genes aids in risk assessment and management. Early genetic counseling and testing inform crucial treatment decisions for newly diagnosed patients.
Area of Science:
- Oncology
- Genetics
- Medical Diagnostics
Background:
- Over a dozen breast cancer susceptibility genes, including BRCA1, BRCA2, and TP53, have been identified.
- Identifying individuals with genetic predispositions relies on family cancer history and physical examination markers.
- Genetic testing offers a precise method for stratifying individual cancer risk.
Purpose of the Study:
- To highlight the importance of genetic testing in breast cancer management.
- To inform clinicians about the role of genetic information in treatment planning.
- To outline risk management options for mutation carriers.
Main Methods:
- Evaluation of cancer family history.
- Physical examination for phenotypic markers.
- Genetic testing for susceptibility gene mutations.
- Genetic counseling.
Main Results:
- Genetic testing enables individualized risk stratification.
- Mutation carriers have multiple risk management options.
- Genetic information influences surgical, radiation, and systemic therapy decisions.
Conclusions:
- Genetic counseling and testing are integral to the initial evaluation of newly diagnosed breast cancer patients.
- This information is critical for optimizing surgical, radiation, and systemic therapy choices.
- Proactive management strategies can be implemented for mutation carriers.
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