Abstract Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify the ancestry contribution from European, African, and Amerindian origins. Fourteen probands carrying c.5266dupC and 16 relatives (carriers and non-carriers) were investigated. The same haplotype was observed segregating within all the families analyzed, revealing no recombinants in a region of 0.68 Mb. Ancestry analysis demonstrated that the European component was predominant among probands. The BRCA1 c.5266dupC analysis indicates that there was a founder effect in the Brazilian population.

中文翻译：

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BRCA1 c.5266dupC 的单倍型特征，巴西遗传性乳腺癌/卵巢癌的主要突变

摘要 与乳腺癌发展相关的特定致病突变可能因种族而异。一个例子是 BRCA1 c.5266dupC，它首先被描述为德系犹太人群体中的创始人突变，但后来也在其他群体中发现。在巴西，该突变对应于报告的致病性 BRCA1 变异的 20%。我们的目标是调查一组在 BRCA1 基因中继承 c.5266dupC 的巴西家族的单倍型成分，并验证来自欧洲、非洲和美洲印第安人血统的血统贡献。研究了携带 c.5266dupC 的 14 名先证者和 16 名亲属（携带者和非携带者）。在所有分析的家族中观察到相同的单倍型，显示在 0.68 Mb 的区域内没有重组体。祖先分析表明，欧洲成分在先证者中占主导地位。BRCA1 c.5266dupC 分析表明巴西人口中存在创始人效应。