BRCA1 and BRCA2 germline mutation analysis in the Indonesian population
Dewajani Purnomosari1, Gerard Pals, Artanto Wahyono
1Department of Histology & Cell Biology, Faculty of Medicine, Gadjah Mada University, Jogjakarta, Indonesia.
Breast Cancer Research and Treatment
|November 1, 2007
Summary
This study identified novel BRCA1 and BRCA2 gene mutations in Indonesian breast cancer patients. These findings suggest specific genetic contributions to breast cancer risk within this population.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- BRCA1 and BRCA2 gene mutations are linked to hereditary breast cancer.
- Limited data exists on the prevalence and types of BRCA1/BRCA2 mutations in the Indonesian population.
Purpose of the Study:
- To investigate the contribution of BRCA1 and BRCA2 mutations in Indonesian breast cancer patients.
- To identify novel mutations specific to this ethnic group.
Main Methods:
- 120 moderate to high-risk breast cancer patients were analyzed.
- Polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) and sequencing were used to detect mutations.
- Multiplex ligation-dependent probe amplification (MLPA) identified large deletions in BRCA1 and BRCA2 genes.
Main Results:
- Twenty-three distinct mutations were found in 30 individuals.
- Ten deleterious mutations and 20 unclassified variants were identified.
- Three novel deleterious mutations in BRCA1 and two in BRCA2 were discovered, potentially specific to the Indonesian population.
Conclusions:
- Novel pathogenic BRCA1 and BRCA2 germline mutations are present in Indonesian breast cancer patients.
- These mutations may be specific to the Indonesian population and contribute to early-onset breast cancer.
