对毛里塔尼亚乳腺癌患者的 BRCA1/2 变异进行筛查。
Screening of BRCA1/2 variants in Mauritanian breast cancer patients.
机构信息
Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne. UNA-FST. Unité URBPM Nouakchott-Mauritanie, Nouakchott-Mauritanie, France.
Centre National d'Oncologie (CNO). Unité de Recherche et d'Enseignement, Nouakchott-Mauritanie, France.
出版信息
BMC Cancer. 2022 Jul 20;22(1):802. doi: 10.1186/s12885-022-09903-8.
BACKGROUND AND STUDY AIM
Carrying a pathogenic BRCA1/2 variant increases greatly young women's risk of developing breast cancer (BC). This study aimed to provide the first genetic data on BC in Mauritania.
METHODS
Using NGS based screening; we searched for BRCA1/2 variants in DNA samples from 137 patients diagnosed for hereditary BC.
RESULTS
We identified 16 pathogenic or likely pathogenic (PV) variants carried by 38 patients. Two predominant BRCA1 PV variants were found: c.815_824dup and c.4986 + 6 T > C in 13 and 7 patients, respectively. Interestingly, three novels BRCA1/2 predicted pathogenic variants have also been detected. Notably, no specific distribution of BRCA1/2 variants was observed regarding triple negative breast cancer (TNBC) or patient gender status.
CONCLUSIONS
In this first genetic profiling of BC in Mauritania, we identified a substantial number of BRCA1/2 pathogenic variants. This finding could be important in the future diagnosis and prevention policy of hereditary BC in Mauritania.
背景与研究目的
携带致病性 BRCA1/2 变异会极大地增加年轻女性罹患乳腺癌（BC）的风险。本研究旨在提供毛里塔尼亚首例 BC 的遗传数据。
方法
我们使用基于 NGS 的筛查方法，对 137 名遗传性 BC 患者的 DNA 样本进行了 BRCA1/2 变异检测。
结果
我们在 38 名患者中发现了 16 种致病性或可能致病性（PV）变异。发现了两种主要的 BRCA1 PV 变异：c.815_824dup 和 c.4986 + 6 T > C，分别在 13 名和 7 名患者中发现。有趣的是，还检测到了三种新的 BRCA1/2 预测致病性变异。值得注意的是，在三阴性乳腺癌（TNBC）或患者性别状况方面，未观察到 BRCA1/2 变异的特定分布。
结论
在毛里塔尼亚首例 BC 的遗传分析中，我们发现了大量的 BRCA1/2 致病性变异。这一发现对毛里塔尼亚遗传性 BC 的未来诊断和预防策略可能非常重要。
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