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Inherited predisposition to breast cancer
1CRC Human Cancer Genetics Group, Addenbrooke's Hospital, Cambridge, U.K.
Biochemical Society Symposium
|March 26, 1998
Summary
Genetic linkage studies identified BRCA1 and BRCA2 genes linked to hereditary breast and ovarian cancers. While testing is clear for high-risk families, broader implications require further cost-benefit analysis.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Hereditary breast and ovarian cancers (HBOC) are often linked to familial predispositions.
- Linkage studies have successfully mapped and identified two key susceptibility genes: BRCA1 and BRCA2.
- These genes, however, are implicated in a relatively small percentage of all breast and ovarian cancer cases.
Purpose of the Study:
- To investigate the role of BRCA1 and BRCA2 genes in familial cancer.
- To explore the implications of genetic testing for cancer susceptibility.
- To understand the potential for improved cancer treatment and prevention strategies.
Main Methods:
- Utilizing linkage studies in families with a history of breast and ovarian cancers.
- Mapping and subsequent cloning of predisposing genes.
- Analysis of the function of BRCA1 and BRCA2 encoded proteins.
Main Results:
- Identification of BRCA1 and BRCA2 as major genes associated with hereditary breast and ovarian cancers.
- These genes account for less than 5% of all diagnosed breast and ovarian cancers.
- Genetic testing for BRCA1/BRCA2 mutations is considered non-controversial in multiple-case families with clear clinical decisions.
Conclusions:
- Understanding BRCA1 and BRCA2 protein functions is crucial for advancing cancer development insights.
- New therapeutic and preventive strategies may emerge from research into these genes.
- The clinical utility and cost-effectiveness of widespread genetic testing for BRCA1/BRCA2 require careful evaluation.