Wulandari, Catharina Endah and Mundhofir, Farmaditya Eka Putra and Winarni, Tri Indah (2016) BRCA1 GENE MUTATION SCREENING IN BREAST CANCER PATIENTS USING BOADICEA RISK PREDICTION MODEL AND HIGH RESOLUTION MELTING METHOD. Masters thesis, Universitas Diponegoro.

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Abstract

Background: Hereditary Breast and Ovarian Cancer (HBOC) Syndrome is the most common hereditary cancer. Specific pattern of HBOC syndrome is related to specific mutation in the BRCA1 gene. The aim of is this study was to identify patient who are predisposed to and to estimate the prevalence of BRCA1-related HBOC in Kariadi Hospital Semarang by using BOADICEA risk prediction model and Polymerase Chain Reaction-High Resolution Melting Analysis (PCR-HRMA) method. Methods: One hundred unrelated patients from Oncology surgery and Chemotherapy Department of Dr. Kariadi Hospital were interviewed for clinical history, pedigree and familial history of HBOC syndrome related cancer. Data received, then were calculated using BOADICEA risk prediction tools. Patient with high score of BOADICEA were offered to perform genetic testing. In total, there were 11 patients with high score of BOADICEA, 2 patients with low score of BOADICEA, 2 patient’s family members and 15 controls were performed genetic testing. Mutation screening using PCR-HRM was performed in exon 2-24 of BRCA1 gene. Aberrant graphs were sequenced. Results: There were 10 variants that had been found; 6 missense mutations (5 of them were polymorphism) and 3 synonymous mutations and one intronic mutation (novel). However, no pathogenic mutation was found in this study. One unclassified variant c.1480C>A/p.Gln494Lys was novel in this study. Conclusion: The mutation found in breast cancer patients in our study classified to be polymorphism and unclassified variant. No known pathogenic mutation found. Further study with larger sample size is required to evaluate pathogenic mutation in breast cancer related HBOC syndrome in Indonesian population.
Keyword: HBOC syndrome, BRCA1 gene, breast cancer, BOADICEA, PCR-HRM

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