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首页> 美国卫生研究院文献>Journal of Public Health in Africa >BRCA1 c.68_69delAG (exon2) c.181TG (exon5) c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso
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BRCA1 c.68_69delAG (exon2) c.181TG (exon5) c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso

机译：布基纳法索的BRCA1 c.68_69delAG（exon2）c.181T G（exon5）c.798_799delTT和943ins10（exon11）突变

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The worldwide variation of BRCA mutations is well known. The c.68_69delAG, c.181T>G, c.798_799delTT mutations in BRCA1 were observed in Moroccan, Algerian and Tunisian Breast Cancer families and were described founder mutation in Northern Africa. The 943ins10 is also recognized a founder mutation in West Africa. To our knowledge no study has been published on BRCA1/2 germline mutations and hereditary breast cancer (HBC) in population of Burkina Faso. The aim of the present study (first in Burkina Faso) was to screen for these four mutations in 15 unrelated patients with HBC. Mutation analysis was performed by Sanger sequencing of coding exon2, Exon5 and exon11A sequences of the BRCA1 gene. Blood specimens of 15 patients from Burkina Faso, with HBC were collected at the University Hospital Yalgado OUEDRAOGO (CHU-YO) of Ouagadougou in Burkina Faso. c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations were not detected in any of the 15 women diagnosed with family breast cancer history. Genetic analysis in this study, we show that targeting relevant exons in BRCA1 genes did not allow detection of mutations in the population of Burkina Faso. Therefore, such an approach may be of interest to perfom a complete sequencing of BRCA1 and BRCA2 genes in families at a high risk of developing breast cancer in Burkina Faso.
机译：BRCA突变的全球变异是众所周知的。在摩洛哥，阿尔及利亚和突尼斯的乳腺癌家族中观察到BRCA1中的c.68_69delAG，c.181T> G，c.798_799delTT突变，并被描述为北非的创始人突变。 943ins10也被认为是西非的创始人突变。据我们所知，尚未发表有关布基纳法索人口中BRCA1 / 2种系突变和遗传性乳腺癌（HBC）的研究。本研究的目的（首先在布基纳法索）是在15例无关的HBC患者中筛查这四个突变。通过Sanger测序对BRCA1基因的exon2，Exon5和exon11A序列进行突变分析。从布基纳法索瓦加杜古的Yalgado OUEDRAOGO大学医院（CHU-YO）收集了来自布基纳法索的15例HBC患者的血液样本。在被诊断患有家族性乳腺癌史的15名女性中，未检测到c.68_69delAG（exon2），c.181T> G（exon5），c.798_799delTT和943ins10（exon11）突变。在这项研究的遗传分析中，我们表明，针对BRCA1基因中的相关外显子不允许检测到布基纳法索人口中的突变。因此，在布基纳法索有罹患乳腺癌高风险的家庭中，对BRCA1和BRCA2基因进行完整测序可能是一种有趣的方法。

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