Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing
Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing
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DOI：
10.1007/s10689-009-9301-5
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发表时间：
2010-06-01
期刊：
影响因子：
2.2
通讯作者：
Balmana, Judith
中科院分区：
文献类型：
--
作者：
Diez, Orland;Gutierrez-Enriquez, Sara;Balmana, Judith
BRCA1和BRCA2基因具有较高的等位基因异质性。最普遍的突变及其地理分布的知识可用于设计有效的突变筛选。在目前的工作中，我们回顾了西班牙七个地理区域BRCA1和BRCA2复发突变的频率，以评估其异质流行在基因检测中的影响。我们观察到，根据所研究家族的地理来源，复发性突变的患病率有所不同，并且根据该系列，阳性家族的数量也有所不同。因此，从全国不同地区收集的更多西班牙人口队列的更多即将到来的数据将允许设计一个更广泛的复发性突变综合小组，这可能适用于全球的西班牙裔家庭。
BRCA1 and BRCA2 genes have a high allelic heterogeneity. The knowledge of the most prevalent mutations and their geographical distribution can be useful in designing efficient mutational screening. In the present work we reviewed the frequency of BRCA1 and BRCA2 recurrent mutations in seven geographic areas of Spain to evaluate the effects of their heterogeneous prevalence in genetic testing. We observed that prevalence of recurrent mutations vary according to the geographical origin of the studied families, and accounted for a variable number of positive families depending on the series. Therefore, more upcoming data of larger Spanish population cohorts collected from different areas in the country will allow to design a wider comprehensive panel of recurrent mutations that may be applicable worldwide to families with Hispanic origin.