Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management
Genetic testing was well accepted by probands, but uptake was low in family members. Overall, one family member carrying a pathogenic variant was identified for every 13 probands receiving genetic counselling and for every 11 probands tested. Risk-reducing measures were taken up by over half of those eligible. Limited uptake of cascade testing and variable uptake of risk-reducing options impacted the programme. To our knowledge, this is the first study in Africa of the real-world effectiveness of a breast cancer genetic service.
Authors
- T. S. Osler (ORCID: https://orcid.org/0000-0003-2966-6327)
- Friedemann Rabe
- Christopher G. Mathew (ORCID: https://orcid.org/0000-0003-4178-1838)
- Michael Urban (ORCID: https://orcid.org/0000-0002-9392-0206)
- Jenny Edge (ORCID: https://orcid.org/0000-0003-3005-7254)
- Mardelle Schoeman (ORCID: https://orcid.org/0000-0003-0143-417X)
- W. Pretorius
Institutions
- National Health Laboratory Service (ZA)
- University of the Witwatersrand (ZA)
- Stellenbosch University (ZA)
- Johannesburg Hospital (ZA)
- Tygerberg Hospital (ZA)
Publication Details
- Journal
- Cancer Medicine
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/cam4.70743
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Cancer Association of South Africa