Resumo

PILLAY, CA; NGWISANYI, W  e  BEIM, CA. A single centre audit of genetic testing in early-onset breast cancer. S. Afr. j. surg. [online]. 2025, vol.63, n.1, pp.15-18. ISSN 2078-5151.  https://doi.org/10.36303/SAJS.00675.

BACKGROUND: This paper serves to audit the number of women who received genetic testing after diagnosis with breast cancer < 35 years. Patients were diagnosed or sought treatment at the Breast Care Centre of Excellence (BCCE), a private accredited specialist breast unit in Johannesburg, South Africa. This study focuses specifically on genetic testing for pathogenic variants of the BRCA 1 and BRCA 2 genes. METHODS: Files of patients diagnosed < 35 years were retrieved, and medical information was extracted. These patient files were then compared to records from the University of the Witwatersrand genetic service facility and the GC Network Pty (Ltd) genetic service facility, and genetic service data was recorded. All data was then compiled and analysed. RESULTS: Over 10 years, 196 patients were diagnosed with breast cancer < 35 years, while only 5 received genetic testing. CONCLUSION: In order to understand the relationship between BRCA1/2 genetic diagnosis and cancer diagnosis, greater emphasis must be placed on the availability of genetic services and testing. Ensuring that these services are available, accessible, and funded by either the State or medical insurance will greatly enhance the understanding between BRCA diagnosis, breast cancer diagnosis, risk reduction procedures, and quality of life in many young women.

Palavras-chave : oncology; genetic testing; breast cancer; carcinoma.

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