Abstract：
The South African genetic screening services for breast cancer comprise targeted and comprehensive tests that screen for the presence of genetic alterations. Clinically, these variants determine the risk of disease development as well as treatment approaches best suited for carriers. The current targeted tests screen for seven pathogenic sequence variants, which are mainly common among Whites, a population that constitutes 9.1% of South Africa. However, these tests are offered to all patients despite consistent negative results observed among Blacks, Indians, and Mixed ancestry (known as Coloreds in South Africa). Consequently, Blacks, White, and Colored patients who potentially carry other variants receive unbefitting treatment, resulting in poor clinical response, recurrence, and high mortality. This review aimed to identify the presence and incidence of pathogenic variants in BRCA1/2 previously reported in all South African populations. We selected literature using a scoping review approach, from which we included eight articles and two reports. Overall, we identified 59 BRCA1 and 60 BRCA2 pathogenic sequence variants from a cohort of 5709 patients and unknown patients from 90 families. The most reported variant was BRCA2 c.7943delG, which was common in White and Colored patients. None of the seven common variants was reported in either Blacks or Indians, which demonstrates the urgency to tailor genetic tests which are optimal for all South African patients and present a range of variants which could serve as diagnostic targets for Black, Indian, and Colored patients.
摘要：
南非针对乳腺癌的遗传筛查服务包括有针对性的全面测试，以筛查遗传改变的存在。临床上,这些变异决定了疾病发展的风险以及最适合携带者的治疗方法.目前有针对性的测试筛选了七种致病序列变异，这些在白人中主要常见，占南非9.1%的人口。然而,这些测试提供给所有患者，尽管在黑人中观察到一致的阴性结果，印第安人,和混合血统（在南非被称为Coloreds）。因此,黑人,白色,可能携带其他变体的有色患者接受不合适的治疗，导致临床反应不佳，复发,和高死亡率。这篇综述旨在确定先前在所有南非人群中报道的BRCA1/2中致病变异的存在和发生率。我们使用范围审查方法选择文献，其中我们包括八篇文章和两份报告。总的来说,我们从一组5709例患者和来自90个家庭的未知患者中鉴定出59个BRCA1和60个BRCA2致病序列变异.报道最多的变体是BRCA2c.7943delG，这在白人和有色人种患者中很常见。在黑人或印第安人中都没有报道这七个常见变体，这表明迫切需要定制适合所有南非患者的基因测试，并提出了一系列可以作为布莱克诊断目标的变异，印度人，有色患者
