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

Published: 7 January 2022| Version 4 | DOI: 10.17632/7z5fxz6r6x.4
Herkulaas Combrink,


The South African Indian population represents a different genetic admixture compared to that of mainland India. 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. Finally, clinical information was also supplied in addition to the genetic information about the tumour characteristics.


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All the patient-based data about the patient demographics as well as the supporting clinical information was captured from the patient request files sent to the laboratory. These request files were completed by the requesting physician and the information, including the samples collected, were verified by clinically trained medical officers, medical scientists and medical technologists. The DNA was extracted from the patients biological samples, and screening for the BRCA1/2 genes were conducted using a series of different genetic screening techniques. All the genetic information was confirmed with Sanger sequencing and verified by two senior medical scientists. This information was recorded in a secure electronic database. The generic results were given using the appropriate BRCA1/2 location nomenclature against the known reference sequence of the human genome, and the information was stratified into three overarching components namely: demographic information, clinical information and genetic information. The clinical information also included the associated risk of the patient in the dataset according to the breast cancer genetic screening guidelines.


University of the Free State


Clinical Cancer Genetics, South Africa