PRELIMINARY STUDY ON THE DETECTION OF EXON 2 DELETION IN BRCA1 GENE BY PCR

• Main Author: Syifa Rahmani, Aghisna
• Format: Final Project
• Language: Indonesia
• Online Access: https://digilib.itb.ac.id/gdl/view/83665
• Institution: Institut Teknologi Bandung

The Breast Cancer Gene 1 (BRCA1) is part of the tumor suppressor gene family, playing a role in the repair system for double-strand DNA damage. Mutations in the BRCA1 gene lead to abnormal cell growth due to disruptions in the cell cycle checkpoint system. BRCA1 mutations are closely associated with ovarian and breast cancers as well as other cancers, making BRCA1 mutation screening an important panel in cancer cases. One of the most common BRCA1 mutations is the 185delAG mutation in exon 2 (16.5%). However, the frequency of the 185delAG mutation varies across different populations. In Indonesia, there has not been a comprehensive mutation study to determine the most frequent BRCA1 mutation types. Understanding the mutation profile of a population is crucial for ensuring appropriate patient management. In this study, a PCR (polymerase chain reaction) system was used to detect the BRCA1 185delAG mutation variant using allele-specific primers. There were two sets of primers: a wild type primer set and a mutant primer set with high specificity for detecting the BRCA1 185delAG mutation. The source of genetic material used was gDNA (genomic DNA) obtained from blood. There were two groups of subjects: a group of three individuals positive for high-grade serous carcinoma (HGSC) ovarian cancer and a group of 11 healthy individuals. The PCR results for the BRCA1 gene using the wild type primer set from all subjects, both healthy individuals and HGSC ovarian cancer-positive subjects, produced a single 94 bp amplicon band. It was concluded that from the obtained samples, both from healthy subjects and HGSC ovarian cancer-positive subjects, the BRCA1 gene did not have the 185delAG mutation.