Implementation of multigene panel testing for breast and ovarian cancer in South Africa: A step towards excellence in oncology for the public sector.

Translation of genomic knowledge into public health benefits requires the implementation of evidence-based recommendations in clinical practice. In this study, we moved beyond susceptibility testing in breast and ovarian cancer patients to explore the application of pharmacogenetics across multiple genes participating in homologous recombination DNA damage repair. This involved the utilisation of next-generation sequencing (NGS) at the intersection of research and service delivery for development of a comprehensive genetic testing platform in South Africa.

The ontology of epidemics-A value-dependent realist account of epidemics.

Rationale: Charters and Heitman have recently argued that epidemic status is lost once the disease becomes 'accepted into people's daily lives and routines, becoming endemic-domesticated-and accepted'. This is a normativist, subjectivist approach to epidemic classification; that is, it is both value-laden, and dependent on the attitudes of the population. In this article, we argue for an alternative approach: a value-dependent realist account of epidemic-status.

Prevalence of Clinically Relevant Germline Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.

Breast cancer is a multifaceted disease that currently represents a leading cause of death in women worldwide. Over the past two decades (1998-2020), the National Health Laboratory Service's Human Genetics Laboratory in central South Africa screened more than 2,974 breast and/or ovarian cancer patients for abnormalities characteristic of the widely known familial breast cancer genes, Breast Cancer gene 1 () and Breast Cancer gene 2 () Patients were stratified according to the presence of family history, age at onset, stage of the disease, ethnicity and mutation status relative to . Collectively, 481 actionable (likely-to pathogenic) variants were detected in this cohort among the different ethnic/racial groups.

Corrigendum to "COVID-19 in South Africa" [Global Epidemiology 2 (2020) 100034].

[This corrects the article DOI: 10.1016/j.gloepi.

Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.

Knowledge of the genetic landscape of a specific population group is vital for population-specific diagnosis and treatment of familial breast cancer. Although BRCA-related diagnostic testing has long been implemented in South Africa, the genotyping approach previously failed for the SA Indian population as it was based on other SA population groups. Because this population is uniquely admixed, the lack of population-specific data resulted in the implementation of comprehensive mutation screens for BRCA1/2.