A5086380823- BRCA gene mutations in cancer
- CRISPR and Genetic Engineering
- Genetics, Bioinformatics, and Biomedical Research
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
National Health Laboratory Service
2022-2024
University of the Free State
2022
Breast cancer is a multifaceted disease that currently represents leading cause of death in women worldwide. Over the past two decades (1998-2020), National Health Laboratory Service's Human Genetics central South Africa screened more than 2,974 breast and/or ovarian patients for abnormalities characteristic widely known familial genes, Cancer gene 1 (BRCA1) and 2 (BRCA2). Patients were stratified according to presence family history, age at onset, stage disease, ethnicity mutation status...
Abstract Purpose Genetically predisposed breast cancer (BC) patients represent a minor but clinically meaningful subgroup of the disease, with 25% all cases associated actionable variants in BRCA1/2 . Diagnostic implementation next-generation sequencing (NGS) resulted rare identification BC double heterozygosity for deleterious genes partaking homologous recombination repair DNA. As clinical heterogeneity poses challenges genetic counseling, this study focused on occurrence and relevance...
Translation of genomic knowledge into public health benefits requires the implementation evidence-based recommendations in clinical practice. In this study, we moved beyond BRCA1/2 susceptibility testing breast and ovarian cancer patients to explore application pharmacogenetics across multiple genes participating homologous recombination DNA damage repair. This involved utilisation next-generation sequencing (NGS) at intersection research service delivery for development a comprehensive...