In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathogenic variant. A total of 3297 individuals with suspicion of hereditary breast and ovarian cancer and fulfilling the clinical criteria necessary for genetic testing in Germany were analyzed for presence of the variant by a Kompetitive Allele-Specific PCR (KASP) assay or direct Sanger sequencing. Since we did not detect an individual carrying the variant we conclude that BRCA1 c.-107A > T is not a common variant in the south-east German population.

中文翻译：

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对3297个个体的分析表明，致病性种系5'-UTR变体BRCA1 c.-107A> T在德国东南部并不常见。

在这项研究中，我们旨在确定最近鉴定出的致病性BRCA1变体c.-107A> T在德国东南部人群中的患病率。该变体引起BRCA1启动子的表观遗传沉默，并且已经在英国的两个独立家族中被检测到，没有种系BRCA1或BRCA2致病变体。通过Koppetitive等位基因特异性PCR（KASP）分析或直接Sanger测序分析了总共3297名怀疑患有遗传性乳腺癌和卵巢癌且符合德国基因测试所需临床标准的个体是否存在变异。由于我们未检测到携带该变体的个体，因此得出结论，BRCA1 c.-107A> T在德国东南部人口中不是常见的变种。