BRCA1 genetic testing in a Pakistani breast-ovarian cancer family with multiple consanguineous marriages.

Women harboring pathogenic germline mutations in the BRCA1 and BRCA2 genes have high lifetime risks of developing breast and ovarian cancer (1). Therefore, it is clinically relevant to identify individuals harboring BRCA1/2 mutations to optimize cancer risk management (2). Initially the genetic risk is assessed based on a comprehensive personal and family history of cancer. Genetic testing is then offered to the breast/ovarian cancer patient. If a pathogenic mutation is identified then predictive genetic testing (PGT) is extended to the patient’s first-degree relatives and helps guide testing decisions for