Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.

ABSTRACT: Germline variants in BRCA1 and BRCA2 (BRCA1/2) genes are the most common cause of hereditary breast cancer. However, a significant number of cases are not linked to these two genes and additional high-, moderate- and low-penetrance genes have been identified in breast cancer. The advent of next-generation sequencing (NGS) allowed simultaneous sequencing of multiple cancer-susceptibility genes and prompted research in this field. So far, cancer-predisposition genes other than BRCA1/2 have not been studied in the population of Bahrain. We performed a targeted NGS using a multi-panel covering 180 genes associated with cancer predisposition to investigate the spectrum and frequency of germline variants in 54 women with a positive personal and/or family history of breast cancer. Sequencing anal

SUBMITTER: Al-Kafaji G 

PROVIDER: S-EPMC10473515 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature