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

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.

与印度本土人群相比，南非印度裔人群呈现出独特的遗传混合特征。迄今为止，尚未针对该人群开展全面的BRCA1/2基因（BRCA1/2）筛查。此外，目前尚无关于这些基因内存在的遗传异常类型的相关信息。本数据集从223例患者中的32例体内检出28种不同的致病性杂合变异。该数据集相关研究成果已发表，并建议针对南非印度裔患者开展全面的家族性乳腺癌基因检测——鉴于此类致病性变异呈现家族特异性，而非人群特异性。此外，本数据集还收集了一系列单核苷酸多态性（single nucleotide polymorphisms，SNP）以及临床意义未明的变异信息。最后，除遗传信息外，本数据集还包含了与肿瘤特征相关的临床信息。