Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients
| Autor: | Hassan Jouhadi, Abdallah Badou, Abdelhamid Barakat, Amina Bakhchane, Brehima Diakite, Abdellatif Benider, Mohamed Amine Senhaji, Meryam El Khachibi, Khalil Hamzi, Sellama Nadifi |
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| Jazyk: | angličtina |
| Předmět: |
Pathology
medicine.medical_specialty Cancer Research DNA Mutational Analysis Single-nucleotide polymorphism Breast Neoplasms Computational biology medicine.disease_cause Polymorphism Single Nucleotide Sensitivity and Specificity High Resolution Melt Exon symbols.namesake Exon 11 Breast cancer medicine Genetics SNP Humans Early Detection of Cancer Sanger sequencing Mutation business.industry BRCA1 Protein Cancer High-Throughput Nucleotide Sequencing Exons medicine.disease BRCA1 Morocco Technical Advance Oncology symbols Female business HRM |
| Zdroj: | BMC Cancer |
| ISSN: | 1471-2407 |
| DOI: | 10.1186/s12885-015-1040-4 |
| Popis: | Background Identification of specific mutations in cancer patients may lead to the discovery of genes, which can affect susceptibility and/or prognosis. It has previously been reported that mutations in BRCA1 and BRCA2 genes are linked to breast cancer. Here, we evaluated the use of the High Resolution Melting (HRM) approach to screen for mutations in exon 11 of BRCA1 gene in Moroccan patients. Methods HRM analysis was used to screen exon 11 from 71 breast cancer patients in order to detect different variants. Conventional Sanger sequencing was used to confirm the presence of possible mutations. Distribution of different SNPs was determined by SNaPshot analysis software. Results In order to assess the efficacy of the HRM approach to screen for mutations, especially in diagnosis, we first used two samples with previously known mutations, “2924delA and 3398delC”. Indeed, these previously known sequence variants were detected by the HRM approach and yielded melting curves with atypical shape relative to wild-type control sequences. We then analyzed, 69 samples from breast cancer patients using the HRM method, and were able to detect two samples with atypical curves. Sequencing of the two samples, using the conventional Sanger approach, confirmed the presence of the same SNP (c.2612C > T) in both samples. Conclusions Our results strongly suggest that the HRM approach represents a reliable and highly sensitive method for mutation scanning, especially in diagnosis. |
| Databáze: | OpenAIRE |
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