Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.

ABSTRACT:

Purpose

Limited data exist on managing hereditary breast cancer in low- middle-income countries (LMICs). We assessed proband and cascade genetic testing, and risk-reducing measures in a South African regional breast cancer service.

Methods

We analysed records from 534 consecutive female probands receiving genetic counselling for breast cancer and their 115 relatives who attended genetic counselling. Demographic and clinical data, family pedigrees and genetic test data were collated from hospital clinical records, regional laboratory data, screening appointments and radiological records.

Results

Test uptake in probands was high (86.9%), although cost was a deterrent in some. There were 83 (19.6%) probands who tested positive, and 45.0% of them had one or more family me

SUBMITTER: Osler TS 

PROVIDER: S-EPMC11881015 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature