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A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel
Familial Cancer ( IF 2.2 ) Pub Date : 2021-03-23 , DOI: 10.1007/s10689-021-00242-4
Keivan Majidzadeh-A 1 , Shiva Zarinfam 1 , Nasrin Abdoli 1 , Fatemeh Yadegari 1 , Rezvan Esmaeili 1 , Leila Farahmand 2 , Azin Teimourzadeh 1 , Mahdieh Taghizadeh 3 , Mansoor Salehi 4 , Mohamad Zamani 1
Affiliation  

BRCA1 and BRCA2 are two prominent genes that account for about 20–40% of inherited breast cancer. Mutations in these genes are often associated with clustering of especially early-onset cancers in the family. The spectrum of BRCA variants showed a significant difference between geographic regions and ethnicities. The frequency and spectrum of BRCA mutations in Iran, a country in southwest Asia, have not yet been thoroughly studied. Here, for the first time, all published and not published BRCA pathogenic variants are presented. Among 1040 high risk families (1258 cases) which were detected, 116 families were found to carry pathogenic variants in either BRCA1 or BRCA2. Altogether 89 distinct types of pathogenic variants have been detected in Iran, including 41 in BRCA1 and 48 in BRCA2. 16 out of 89 mutations had not been previously reported in Iran and are presented for the first time in this article, among which 4 mutations are novel worldwide. 20% of families had one of the seven most commonly observed mutations, including c.81-1G > C, c.66_67delAG, c.4609C>T, c.1568delT, c.1961delA, in BRCA1 and: c.3751_3752insA, c.8585dupT in BRCA2. Combining the data from published articles and our study which has not been published before, a comprehensive table is created as a reference for entire BRCA pathogenic variants and their frequencies in Iran.



中文翻译:

伊朗 BRCA1/2 基因致病变异的综合参考:已发表、未发表和新颖

BRCA1BRCA2是两个突出的基因,约占遗传性乳腺癌的 20-40%。这些基因的突变通常与家族中特别是早发性癌症的聚集有关。BRCA变异谱显示地理区域和种族之间存在显着差异。伊朗这个位于亚洲西南部的国家, BRCA突变的频率和谱还没有被彻底研究过。在这里,首次展示了所有已发表和未发表的BRCA致病变异。在检测到的 1040 个高危家族(1258 例)中,发现 116 个家族携带BRCA1BRCA2的致病变异. 在伊朗共检测到 89 种不同类型的致病变异,包括BRCA1中的 41 种和BRCA2中的48种。89 种突变中有 16 种以前未在伊朗报道过,本文首次提出,其中 4 种突变在世界范围内是新的。20% 的家族具有七种最常见的突变之一,包括 BRCA1 中的 c.81-1G > C、c.66_67delAG、c.4609C>T、c.1568delT、c.1961delA:c.3751_3752insA、c BRCA2中的 .8585dupT 。结合已发表文章的数据和我们之前未发表的研究,创建了一个综合表格,作为整个BRCA致病变异及其在伊朗的频率的参考。

更新日期:2021-03-23
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