Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Saint-Petersburg, Russia.
Department of Obstetrics and Gynecology, Grodno State Medical University, Grodno, Belarus.
Fam Cancer. 2023 Jan;22(1):19-30. doi: 10.1007/s10689-022-00296-y. Epub 2022 May 21.
The spectrum of BRCA1/2 mutations demonstrates significant interethnic variations. We analyzed for the first time the entire BRCA1/2 coding region in 340 Belarusian cancer patients with clinical signs of BRCA1/2-related disease, including 168 women with bilateral and/or early-onset breast cancer (BC), 104 patients with ovarian cancer and 68 subjects with multiple primary malignancies involving BC and/or OC. BRCA1/2 pathogenic alleles were detected in 98 (29%) women, with 67 (68%) of these being represented by founder alleles. Systematic comparison with other relevant studies revealed that the founder effect observed in Belarus is among the highest estimates observed worldwide. These findings are surprising, given that the population of Belarus did not experience geographic or cultural isolation throughout history.
BRCA1/2 突变的频谱表现出显著的种族间差异。我们首次分析了 340 名具有 BRCA1/2 相关疾病临床特征的白俄罗斯癌症患者的整个 BRCA1/2 编码区，其中包括 168 名双侧和/或早发性乳腺癌（BC）女性、104 名卵巢癌患者和 68 名涉及 BC 和/或 OC 的多原发恶性肿瘤患者。在 98 名女性中检测到 BRCA1/2 致病性等位基因，其中 67 个（68%）是由创始人等位基因代表的。与其他相关研究的系统比较表明，白俄罗斯观察到的创始人效应是全球观察到的最高估计之一。这些发现令人惊讶，因为白俄罗斯的人口在整个历史中没有经历过地理或文化隔离。
