BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan
| Autor: | Belal Azab, Munir Abu-Helalah, Abdalla Awidi, Hanan Jafar, Hussam Alshraideh, Dema Ali, Nizar Drou, Rasmi Mubaidin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Oncology Male Molecular biology Genes BRCA2 lcsh:Medicine medicine.disease_cause Neoplasms Multiple Primary 0302 clinical medicine Young adult Family history Age of Onset skin and connective tissue diseases lcsh:Science Early Detection of Cancer Cancer Sanger sequencing Ovarian Neoplasms Mutation education.field_of_study Multidisciplinary BRCA1 Protein High-Throughput Nucleotide Sequencing DNA Neoplasm Middle Aged 030220 oncology & carcinogenesis symbols Female Adult medicine.medical_specialty Population Breast Neoplasms Article Breast Neoplasms Male 03 medical and health sciences symbols.namesake Young Adult Breast cancer Internal medicine medicine Genetics Humans Genetic Predisposition to Disease education Aged BRCA2 Protein Jordan business.industry lcsh:R medicine.disease Computational biology and bioinformatics 030104 developmental biology lcsh:Q Age of onset business Ovarian cancer |
| Zdroj: | Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020) Scientific Reports |
| ISSN: | 2045-2322 |
| Popis: | Familial breast cancer is estimated to account for 15–20% of all cases of breast cancer. Surveillance for familial breast cancer is well-established world-wide. However, this service does not exist in Jordan, due to the scarcity of information with regard to the genetic profiling of these patients, and therefore lack of recommendations for policy-makers. As such, patients with very strong family history of breast or ovarian cancers are not screened routinely; leading to preventable delay in diagnosis. Whole coding sequencing for BCRA1/BCRA2 using next-generation sequencing (NGS)/Ion PGM System was performed. Sanger sequencing were then used to confirm the pathogenic variants detected by NGS. In this study, 192 breast cancer patients (and 8 ovarian cancer cases) were included. The prevalence of recurrent pathogenic mutations was 14.5%, while the prevalence of newly detected mutations was 3.5%. Two novel pathogenic mutations were identified in BRCA2 genes. The common mutations in the Ashkenazi population used for screening may not apply in the Jordanian population, as previously reported mutations were not prevalent, and other new mutations were identified. These data will aid to establish a specific screening test for BRCA 1/BRCA2 in the Jordanian population. |
| Databáze: | OpenAIRE |
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