Department of Public Health, Faculty of Medicine, Mutah University, Karak, Jordan.
Faculty of Medicine, Al-Faisal University, Riyadh, Kingdom of Saudi Arabia.
Sci Rep. 2020 Oct 16;10(1):17573. doi: 10.1038/s41598-020-74250-2.
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.
家族性乳腺癌估计占所有乳腺癌病例的 15-20%。全世界都有针对家族性乳腺癌的监测措施。然而，由于缺乏对这些患者基因谱的信息，因此在约旦没有为决策者提供相关建议，这种服务并不存在。因此，有很强家族性乳腺癌或卵巢癌病史的患者没有进行常规筛查；导致诊断延误。使用下一代测序 (NGS)/Ion PGM 系统对 BRCA1/BCRA2 进行全编码测序。然后使用 Sanger 测序来确认 NGS 检测到的致病性变异。在这项研究中，纳入了 192 名乳腺癌患者（和 8 名卵巢癌病例）。复发性致病性突变的患病率为 14.5%，而新发现的突变的患病率为 3.5%。在 BRCA2 基因中鉴定出了两种新的致病性突变。之前报道的突变并不常见，并且发现了其他新的突变，因此用于筛查的阿什肯纳兹人群中的常见突变可能不适用于约旦人群。这些数据将有助于在约旦人群中建立针对 BRCA1/BRCA2 的特定筛查测试。
