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首页> 外文期刊>Journal of International Medical Research >BRCA1/ BRCA2 mutation spectrum analysis in South Asia: a systematic review
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BRCA1/ BRCA2 mutation spectrum analysis in South Asia: a systematic review

机译：<斜体切换=“是”> BRCA1 / <斜体切换=“是”> BRCA2 南亚的突变频谱分析：系统审查

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Objective Breast cancer (BC) is the most common form of cancer among Asian females. Mutations in the BRCA1 / BRCA2 genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South Asian populations, we aimed to explore these mutations among South Asian countries. Methods A systematic literature search was performed for the BRCA1 and BRCA2 gene mutation spectrum using electronic databases such as PubMed, EMBASE, and Google Scholar. Twenty studies were selected based on specific inclusion and exclusion criteria. Results The 185delAG (c.68_69del) mutation in exon 2 of BRCA1 was the most common recurrent mutation and founder mutation found. Various intronic variants, variants of unknown significance, large genomic rearrangements, and polymorphisms were also described in some studies. Conclusions The South Asian population has a wide variety of genetic mutations of BRCA1 and BRCA2 that differ according to countries and ethnicities. A stronger knowledge of various population-specific mutations in these cancer susceptibility genes can help provide efficient strategies for genetic testing.
机译：目标乳腺癌（BC）是亚洲女性中最常见的癌症形式。在BC病例中经常观察到BRCA1 / BRCA2基因中的突变，并且在很大程度上增加了BC的寿命风险。由于南亚群体中BRCA突变分子谱的高质量数据的缺乏，我们旨在探索南亚国家的这些突变。方法使用诸如PubMed，Embase和Google Scholar等电子数据库进行BRCA1和BRCA2基因突变谱进行系统文献搜索。基于特定的包含和排除标准选择二十研究。结果BRCA1的外显子2中的185delag（C.68_69del）突变是最常见的复发性突变和发现的创始突变。在一些研究中还描述了各种内肾内变体，未知意义，大基因组重排和多态性的变体。结论南亚人口具有各种各样的遗传突变，并根据国家和种族不同。对这些癌症易感基因的各种群体特异性突变的更强烈了解可以帮助提供遗传检测的有效策略。

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