BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.

ABSTRACT: 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 prevalenc

SUBMITTER: Abu-Helalah M 

PROVIDER: S-EPMC7568559 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature