Genetic testing by cancer site: breast.
Kristen Mahoney Shannon1, Anu Chittenden
1Massachusetts General Hospital Cancer Center, Center for Cancer Risk Assessment, 55 Fruit St., Cancer Institute, Boston, MA 02114, USA. keshannon@partners.org
Cancer Journal (Sudbury, Mass.)
|August 1, 2012
Summary
Identifying individuals with high-risk hereditary breast cancer genes enables targeted interventions. This improves early detection, prevention, and survival rates for women with genetic predispositions.
Area of Science:
- Oncology
- Genetics
- Public Health
Background:
- Breast cancer affects 12% of US women lifetime.
- 5-10% of breast cancers are linked to highly penetrant genes.
- Gene mutations significantly elevate lifetime cancer risk.
Purpose of the Study:
- Identify high-risk breast cancer patients.
- Review clinical features, risks, genes, and management of hereditary breast cancer syndromes.
- Discuss newer genes implicated in familial breast cancer.
Main Methods:
- Literature review of hereditary breast cancer syndromes.
- Focus on clinical identification and genetic factors.
- Overview of management strategies for high-risk individuals.
Main Results:
- Hereditary breast cancer syndromes significantly increase risk.
- Early identification allows for tailored surveillance and prevention.
- Several genes are clearly associated with hereditary breast cancer.
Conclusions:
- Distinguishing high-risk individuals is crucial for proactive healthcare.
- Genetic counseling, surveillance, and prevention improve outcomes.
- Ongoing research identifies new genes contributing to familial breast cancer risk.
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