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Published on: August 12, 2015
BRCA1 expression in triple negative sporadic breast cancers.
Eva Galizia1, Gessica Giorgetti, Gina Piccinini
1Regional Center of Genetic Oncology, Department of Anatomic and Histologic Pathology and Clinic of Medical Oncology, Ospedali Riuniti, Università Politecnica delle Marche, Ancona, Italy.
Analytical and Quantitative Cytology and Histology
|August 13, 2010
Summary
Epigenetic BRCA1 inactivation via promoter methylation is observed in some sporadic triple-negative breast cancers (TNBCs). This finding may help identify patients for targeted therapy studies.
Area of Science:
- Oncology
- Genetics
- Epigenetics
Background:
- Triple-negative breast cancer (TNBC) lacks targeted therapies.
- BRCA1 gene inactivation is common in hereditary breast cancer.
- Epigenetic mechanisms like promoter methylation can silence tumor suppressor genes.
Purpose of the Study:
- To investigate epigenetic BRCA1 inactivation in sporadic TNBC.
- To identify TNBC patients with BRCA1 promoter methylation.
Main Methods:
- Analysis of BRCA1 protein and mRNA expression.
- Assessment of BRCA1 promoter methylation using methylation-specific PCR and bisulfite sequencing.
- Comparison between triple-negative and triple-positive breast cancer cases.
Main Results:
- BRCA1 promoter methylation was found in 31.8% of TNBC cases.
- BRCA1 inactivation (mRNA and protein loss) occurred in 21.4% of methylated tumors.
- Methylation was significantly associated with BRCA1 inactivation (p=0.0453).
Conclusions:
- Epigenetic BRCA1 inactivation plays a role in a subset of sporadic TNBC.
- Identifying these patients could enable future clinical trials for targeted therapies.
