Application of genetic testing criteria for hereditary breast cancer in South Africa.

ABSTRACT:

Purpose

Breast cancer (BC) is the commonest cancer in South African women. A proportion are associated with a pathogenic or likely pathogenic (P/LP) variant in a BC susceptibility gene. Clinical guidelines for genetic testing are used to optimise variant detection while containing costs. We assessed the detection rate in women of diverse ancestries who met the South African National Department of Health (NDOH) testing guidelines, and analysed relationships between testing criteria, participant characteristics and presence of a BRCA1/2 P/LP variant.

Methods

Records from 376 women with BC who met NDOH criteria and had genetic testing were included. Demographic, clinical and test result data were collated to describe detection rates according to criteria met, and a multivariate

SUBMITTER: Osler TS 

PROVIDER: S-EPMC11930871 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature