Publications by authors named "Yousef Al Marzooq"
Background: Breast cancer patients from the indigenous Arab population present much earlier than patients from Western countries and have traditionally been underrepresented in cancer genomics studies. The contribution of polygenic and Mendelian risk toward the earlier onset of breast cancer in the population remains elusive.
Methods: We performed low-pass whole genome sequencing (lpWGS) and whole-exome sequencing (WES) from 220 female breast cancer patients unselected for positive family history from the indigenous Arab population.
Article Synopsis
- * Exome sequencing of 220 Arab female breast cancer patients revealed that 5.9% had clinically actionable results, while 25.5% carried unknown-impact alleles related to drug metabolism.
- * Four novel missense variants were identified, including one highly likely to be pathogenic, indicating the necessity for further research to enhance understanding of pharmacogenomics in this population.