A South African Indian Population Group Dataset for Breast Cancer and BRCA1/2 Variants

To date, comprehensive BRCA1/2 screening for this population group was not conducted. Furthermore, no information about the type of genetic abnormalities present within these genes are known.

From this dataset, twenty-eight different pathogenic heterozygotes were detected in 32 of the 223 patients. The information was published with the recommendation that comprehensive familial breast cancer testing for South African Indian patients as the pathogenic variants seem to be family- rather than population-specific. However, a series of singly nucleotide polymorphisms and variants with an unknown clinical significance was also collected.