MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3-5, 80035, Munich, Germany.
Fam Cancer. 2020 Jul;19(3):211-213. doi: 10.1007/s10689-020-00175-4. Epub 2020 Mar 21.
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.
在这项研究中，我们旨在确定最近在德国东南部人群中发现的致病性 BRCA1 变体 c.-107A>T 的流行率。该变体导致 BRCA1 启动子的表观遗传沉默，并已在英国的两个独立家族中检测到，这些家族没有胚系 BRCA1 或 BRCA2 致病性变体。通过 Kompetitive Allele-Specific PCR（KASP）检测或直接 Sanger 测序，对 3297 名怀疑患有遗传性乳腺癌和卵巢癌且符合德国基因检测必要临床标准的个体进行了该变体的存在分析。由于我们没有检测到携带该变体的个体，因此我们得出结论，BRCA1 c.-107A>T 不是德国东南部人群中的常见变体。
